TY  - JOUR
AU  - Maksić, Jasmina
AU  - Maksimović, Nela
AU  - Rasulić, Lukas
AU  - Milankov, Olgica
AU  - Marjanović, Ana
AU  - Cvetković, Dragana
AU  - Rakočević Stojanović, Vidosava
AU  - Novaković, Ivana
PY  - 2023
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/5288
AB  - Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked reces-sive diseases where males are affected, and females are healthy carriers of the mutation in most cases. It is estimat-ed that 2/3 of mothers of Duchenne MD probands are car-riers, while 1/3 of probands have de novo mutations. The aim of the study was to confirm the carrier status of female members of the families of Duchenne MD/Becker MD probands using direct genetic testing methods. Methods. The study included 38 females from 31 families of Du-chenne MD/Becker MD probands with dele-tion/duplication in the DMD gene. Moreover, 4 cases of prenatal diagnosis of Duchenne MD/Becker MD were in-cluded. The methods of polymerase chain reaction - PCR and the multiplex ligation-dependent probe amplification - MLPA were applied for detecting deletions, i.e., dele-tion/duplication mutations in the DMD gene. Results. In the total of 31 Duchenne MD/Becker MD probands, 87.1% of deletions and 12.9% of duplications of one or more exons in the DMD gene were detected. Of the 29 tested mothers, mutations were found in 17 of them (14 de-letions and 3 duplications). Mutations were detected in 11 (57.9%) out of 19 mothers of probands with the Duchenne MD phenotype and 6 (60%) out of 10 mothers of Becker MD probands. Furthermore, 14 (56%) out of 25 mothers were carriers in probands with deletions, and 3 (75%) out of 4 mothers were carriers in probands with duplications. In the remaining 9 other female relatives of the patients, muta-tions were found in 4. In prenatal diagnosis, we identified a deletion in one male and one female fetus of one single mother who was confirmed as a carrier. Conclusion. The study showed that mothers were carriers in almost 60% of sporadic cases of Duchenne MD/Becker MD with dele-tions and duplications. In addition, the carrier frequency tended to be higher in mothers of the probands with dupli-cations (75%) compared to mothers of probands with dele-tions (56%).
AB  - Uvod/Cilj. Dišenova mišićna distrofija (MD) i Bekerova MD su uzrokovane mutacijama u genu za distrofin (DMD). To su recesivne bolesti vezane za X hromozom, od kojih obolevaju muškarci, a žene su uglavnom zdravi nosioci mu-tacije. Procenjeno je da su kod probanada obolelih od Dišenove MD 2/3 majki nosioci mutacije, dok 1/3 pro-banada ima de novo mutaciju. Cilj rada bio je da se potvrdi status nosioca mutacije kod ženskih članova porodica pro-banada obolelih od Dišenove MD/Bekerove MD primenom metoda direktnog genetičkog testiranja. Metode. Studija je obuhvatila ukupno 38 žena iz 31 porodice pro-banada obolelih od Dišenove MD/Bekerove MD sa deleci-jom/duplikacijom u DMD genu. Takođe, u studiju su bila uključena i 4 slučaja Dišenove MD/Bekerove MD otkrivena prenatalnom dijagnostikom. Metoda lančane reakcije poli-meraze (polymerase chain reaction – PCR) i metoda višestrukog umnožavanja vezanih proba (multiplex ligation-dependent probe amplification -MLPA) su korišćene za detekciju delecija, od-nosno delecija/duplikacija mutacija u DMD genu. Rezulta-ti. Kod ukupno 31 probanada obolelih od Dišenove MD/Bekerove MD, utvrđeno je 87,1% mutacija tipa deleci-je i 12,9% mutacija tipa duplikacija jednog ili više egzona u DMD genu. Od 29 testiranih majki probanada, mutacije su nađene kod njih 17 (14 delecija i 3 duplikacije). Mutacije su detektovane kod 11 (57,9%) od 19 majki probanada sa feno-tipom Dišenove MD i kod 6 (60%) od 10 majki probanada obolelih od Bekerove MD. Takođe, kod probanada sa de-lecijom, kod 14 (56%) od 25 majki je potvrđeno da su nosioci mutacije, a kod probanada sa duplikacijom, 3 (75%) od 4 majke su bile nosioci mutacije. Od ostalih 9 ženskih srodnika probanada obolelih od Dišenove MD/Bekerove MD, mutacije su nađene kod nijh 4. Prenatalnom dijagnos tikom utvrđene su delecije kod jednog muškog i jednog ženskog fetusa iste majke koja je bila potvrđena kao nosilac mutacije. Zaključak. Istraživanje je pokazalo da su majke bile nosioci mutacija u skoro 60% izolovanih slučajeva ob-olelih od Dišenove MD/Bekerove MD sa delecijama i duplikacijama. Takođe, učestalost majki nosioca mutacije kod probanada sa duplikaciom (75%) se pokazala višom ne-go kod majki probanada sa delecijom (56%).
PB  - Vojnomedicinska akademija
T2  - Vojnosanitetski pregled
T1  - The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies
T1  - Značaj direktnog genetičkog testiranja za otkrivanje žena prenosioca mutacije kod distrofinopatija
EP  - 207
IS  - 3
SP  - 201
VL  - 80
DO  - 10.2298/VSP190208030M
ER  - 

@article{
author = "Maksić, Jasmina and Maksimović, Nela and Rasulić, Lukas and Milankov, Olgica and Marjanović, Ana and Cvetković, Dragana and Rakočević Stojanović, Vidosava and Novaković, Ivana",
year = "2023",
abstract = "Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked reces-sive diseases where males are affected, and females are healthy carriers of the mutation in most cases. It is estimat-ed that 2/3 of mothers of Duchenne MD probands are car-riers, while 1/3 of probands have de novo mutations. The aim of the study was to confirm the carrier status of female members of the families of Duchenne MD/Becker MD probands using direct genetic testing methods. Methods. The study included 38 females from 31 families of Du-chenne MD/Becker MD probands with dele-tion/duplication in the DMD gene. Moreover, 4 cases of prenatal diagnosis of Duchenne MD/Becker MD were in-cluded. The methods of polymerase chain reaction - PCR and the multiplex ligation-dependent probe amplification - MLPA were applied for detecting deletions, i.e., dele-tion/duplication mutations in the DMD gene. Results. In the total of 31 Duchenne MD/Becker MD probands, 87.1% of deletions and 12.9% of duplications of one or more exons in the DMD gene were detected. Of the 29 tested mothers, mutations were found in 17 of them (14 de-letions and 3 duplications). Mutations were detected in 11 (57.9%) out of 19 mothers of probands with the Duchenne MD phenotype and 6 (60%) out of 10 mothers of Becker MD probands. Furthermore, 14 (56%) out of 25 mothers were carriers in probands with deletions, and 3 (75%) out of 4 mothers were carriers in probands with duplications. In the remaining 9 other female relatives of the patients, muta-tions were found in 4. In prenatal diagnosis, we identified a deletion in one male and one female fetus of one single mother who was confirmed as a carrier. Conclusion. The study showed that mothers were carriers in almost 60% of sporadic cases of Duchenne MD/Becker MD with dele-tions and duplications. In addition, the carrier frequency tended to be higher in mothers of the probands with dupli-cations (75%) compared to mothers of probands with dele-tions (56%)., Uvod/Cilj. Dišenova mišićna distrofija (MD) i Bekerova MD su uzrokovane mutacijama u genu za distrofin (DMD). To su recesivne bolesti vezane za X hromozom, od kojih obolevaju muškarci, a žene su uglavnom zdravi nosioci mu-tacije. Procenjeno je da su kod probanada obolelih od Dišenove MD 2/3 majki nosioci mutacije, dok 1/3 pro-banada ima de novo mutaciju. Cilj rada bio je da se potvrdi status nosioca mutacije kod ženskih članova porodica pro-banada obolelih od Dišenove MD/Bekerove MD primenom metoda direktnog genetičkog testiranja. Metode. Studija je obuhvatila ukupno 38 žena iz 31 porodice pro-banada obolelih od Dišenove MD/Bekerove MD sa deleci-jom/duplikacijom u DMD genu. Takođe, u studiju su bila uključena i 4 slučaja Dišenove MD/Bekerove MD otkrivena prenatalnom dijagnostikom. Metoda lančane reakcije poli-meraze (polymerase chain reaction – PCR) i metoda višestrukog umnožavanja vezanih proba (multiplex ligation-dependent probe amplification -MLPA) su korišćene za detekciju delecija, od-nosno delecija/duplikacija mutacija u DMD genu. Rezulta-ti. Kod ukupno 31 probanada obolelih od Dišenove MD/Bekerove MD, utvrđeno je 87,1% mutacija tipa deleci-je i 12,9% mutacija tipa duplikacija jednog ili više egzona u DMD genu. Od 29 testiranih majki probanada, mutacije su nađene kod njih 17 (14 delecija i 3 duplikacije). Mutacije su detektovane kod 11 (57,9%) od 19 majki probanada sa feno-tipom Dišenove MD i kod 6 (60%) od 10 majki probanada obolelih od Bekerove MD. Takođe, kod probanada sa de-lecijom, kod 14 (56%) od 25 majki je potvrđeno da su nosioci mutacije, a kod probanada sa duplikacijom, 3 (75%) od 4 majke su bile nosioci mutacije. Od ostalih 9 ženskih srodnika probanada obolelih od Dišenove MD/Bekerove MD, mutacije su nađene kod nijh 4. Prenatalnom dijagnos tikom utvrđene su delecije kod jednog muškog i jednog ženskog fetusa iste majke koja je bila potvrđena kao nosilac mutacije. Zaključak. Istraživanje je pokazalo da su majke bile nosioci mutacija u skoro 60% izolovanih slučajeva ob-olelih od Dišenove MD/Bekerove MD sa delecijama i duplikacijama. Takođe, učestalost majki nosioca mutacije kod probanada sa duplikaciom (75%) se pokazala višom ne-go kod majki probanada sa delecijom (56%).",
publisher = "Vojnomedicinska akademija",
journal = "Vojnosanitetski pregled",
title = "The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies, Značaj direktnog genetičkog testiranja za otkrivanje žena prenosioca mutacije kod distrofinopatija",
pages = "207-201",
number = "3",
volume = "80",
doi = "10.2298/VSP190208030M"
}

Maksić, J., Maksimović, N., Rasulić, L., Milankov, O., Marjanović, A., Cvetković, D., Rakočević Stojanović, V.,& Novaković, I.. (2023). The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies. in Vojnosanitetski pregled
Vojnomedicinska akademija., 80(3), 201-207.
https://doi.org/10.2298/VSP190208030M

Maksić J, Maksimović N, Rasulić L, Milankov O, Marjanović A, Cvetković D, Rakočević Stojanović V, Novaković I. The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies. in Vojnosanitetski pregled. 2023;80(3):201-207.
doi:10.2298/VSP190208030M .

Maksić, Jasmina, Maksimović, Nela, Rasulić, Lukas, Milankov, Olgica, Marjanović, Ana, Cvetković, Dragana, Rakočević Stojanović, Vidosava, Novaković, Ivana, "The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies" in Vojnosanitetski pregled, 80, no. 3 (2023):201-207,
https://doi.org/10.2298/VSP190208030M . .

TY  - JOUR
AU  - Maksić, Jasmina
AU  - Maksimović, Nela
AU  - Rasulić, Lukas
AU  - Milankov, Olgica
AU  - Marjanović, Ana
AU  - Cvetković, Dragana
AU  - Rakočević, Vidosava
AU  - Rakočević  Stojanović, Vidosava
AU  - Novaković, Ivana
PY  - 2023
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4756
AB  - Duchenne muscular dystrophy (DMD) and Becker muscular
dystrophy (BMD) are caused by mutations in the dystrophin gene. They are X-linked
recessive diseases, where males are affected and females are mostly healthy carriers of the
mutation. It is estimated that 2/3 mothers of DMD probands are carriers, while 1/3 of
patients have de novo mutations. The aim was to confirm the carrier status of females in the
families of DMD/BMD probands, using direct genetic methods. Methods. We tested 38
females from 31 families of DMD/BMD probands with deletion/duplication in the
dystrophin gene. Also, 4 cases of prenatal diagnosis of DMD/BMD were included. We
preformed the polymerase chain reaction (PCR) and the multiplex ligation-dependent
method (MLPA) for deletion detection, i.e. deletion/duplication in the dystrophin gene.
Results. In 31 DMD/BMD probands, we identified 87.1% deletions and 12.9%
duplications of one or more exons. Of the 29 tested mothers, mutations were found in 17
(14 deletions and 3 duplications). Mutations were found in 57.9% (11/19) mothers of DMD
and in 60% (6/10) mothers of BMD, respectively. Also, in probands with deletions 56%
(14/25) of mothers were carries and in probands with duplications 3 mothers of 4 (75%).
Of the 9 other female relatives, mutations were found in 4. In prenatal diagnosis, we
identified deletion in one male and one female foetus of one mother. Conclusion. The
study showed that mothers were carriers in almost 60% of sporadic cases of DMD/BMD
with deletions and duplication. Also, the carrier frequency tended to be higher in mothers
of the probands with duplication (75%) then in probands with deletions (56%). In the case
of a mother who was confirmed as a carrier, deletion was detected in 2 of 3 foetuses.
AB  - Dišenova mišićna distrofija (DMD) i Bekerova mišićna distrofija (BMD) su
uzrokovane mutacijama u genu za distrofin. To su X-vezane recesivne bolesti, gde
oboljevaju muškarci a žene su uglavnom zdravi prenosioci mutacije. Procenjeno je da su
kod DMD probanada 2/3 majki nosioci, dok 1/3 pacijenata ima novu mutaciju. Cilj rada je
bio da se utvrdi status prenosioca kod žena u porodicama obolelih od DMD/BMD,
primenom direktne genetičke metode. Metode. Testirali smo 38 žena iz 31 porodice
DMD/BMD probanada sa delecijama i duplikacijama u genu za distrofin. Takođe, u studiju
su bila uključena i 4 slučaja prenatalne DMD/BMD dijagnoze. Primenjene su metoda
lančane reakcije polimerizacije (PCR) i metoda višestrukog umnožavanja vezanih proba
(MLPA) za detekciju delecija, odnosno delecija i duplikacija u genu za distrofin. Rezultati.
Kod 31-og DMD/BMD probanda utvrđeno je 87,1% delecija i 12,9% duplikacija jednog ili
više egzona. Od 29 testiranih majki probanada, mutacije su nađene kod njih 17 (14 delecija
i 3 duplikacije). Mutacije su nađene kod 57,9% (11/19) majki probanada sa DMD
fenotipom i kod 60% majki probanada sa BMD. Takođe, kod probanada sa delecijom 56%
(14/25) majki su potvrđene kao nosioci, a kod probanada sa duplikacijom 3 od 4 majke
(75%). Od preostalih 9 ženskih srodnika, mutacije su nađene kod nijh 4. Prenatalnom
dijagnostikom utvrđene su delecije kod jednog muškog i jednog ženskog ploda iste majke.
Zaključak. Istraživanje je pokazalo da su majke bile nosioci u skoro 60% izolovanih
DMD/BMD slučajeva sa delecijama i duplikacijama. Takođe, učestalost majki nosioca kod
probanada sa duplikaciom (75%) se pokazala većom nego kod majki probanada sa
delecijom (56%). U slučaju majke koja je bila potvrđena kao nosilac, delecija je otkrivena
kod njena 2 ploda od 3 ispitana.
PB  - Vojnomedicinska akademija
T2  - Vojnosanitetski pregled
T1  - The importance of direct genetic testing to determine female carriers in dystrophinopathies
T1  - Značaj direktnog genetičkog testiranja za utvrđivanje žena prenosioca kod distrofinopatija
EP  - 207
IS  - 3
SP  - 201
VL  - 80
DO  - 10.2298/VSP190208030SM
ER  - 

@article{
author = "Maksić, Jasmina and Maksimović, Nela and Rasulić, Lukas and Milankov, Olgica and Marjanović, Ana and Cvetković, Dragana and Rakočević, Vidosava and Rakočević  Stojanović, Vidosava and Novaković, Ivana",
year = "2023",
abstract = "Duchenne muscular dystrophy (DMD) and Becker muscular
dystrophy (BMD) are caused by mutations in the dystrophin gene. They are X-linked
recessive diseases, where males are affected and females are mostly healthy carriers of the
mutation. It is estimated that 2/3 mothers of DMD probands are carriers, while 1/3 of
patients have de novo mutations. The aim was to confirm the carrier status of females in the
families of DMD/BMD probands, using direct genetic methods. Methods. We tested 38
females from 31 families of DMD/BMD probands with deletion/duplication in the
dystrophin gene. Also, 4 cases of prenatal diagnosis of DMD/BMD were included. We
preformed the polymerase chain reaction (PCR) and the multiplex ligation-dependent
method (MLPA) for deletion detection, i.e. deletion/duplication in the dystrophin gene.
Results. In 31 DMD/BMD probands, we identified 87.1% deletions and 12.9%
duplications of one or more exons. Of the 29 tested mothers, mutations were found in 17
(14 deletions and 3 duplications). Mutations were found in 57.9% (11/19) mothers of DMD
and in 60% (6/10) mothers of BMD, respectively. Also, in probands with deletions 56%
(14/25) of mothers were carries and in probands with duplications 3 mothers of 4 (75%).
Of the 9 other female relatives, mutations were found in 4. In prenatal diagnosis, we
identified deletion in one male and one female foetus of one mother. Conclusion. The
study showed that mothers were carriers in almost 60% of sporadic cases of DMD/BMD
with deletions and duplication. Also, the carrier frequency tended to be higher in mothers
of the probands with duplication (75%) then in probands with deletions (56%). In the case
of a mother who was confirmed as a carrier, deletion was detected in 2 of 3 foetuses., Dišenova mišićna distrofija (DMD) i Bekerova mišićna distrofija (BMD) su
uzrokovane mutacijama u genu za distrofin. To su X-vezane recesivne bolesti, gde
oboljevaju muškarci a žene su uglavnom zdravi prenosioci mutacije. Procenjeno je da su
kod DMD probanada 2/3 majki nosioci, dok 1/3 pacijenata ima novu mutaciju. Cilj rada je
bio da se utvrdi status prenosioca kod žena u porodicama obolelih od DMD/BMD,
primenom direktne genetičke metode. Metode. Testirali smo 38 žena iz 31 porodice
DMD/BMD probanada sa delecijama i duplikacijama u genu za distrofin. Takođe, u studiju
su bila uključena i 4 slučaja prenatalne DMD/BMD dijagnoze. Primenjene su metoda
lančane reakcije polimerizacije (PCR) i metoda višestrukog umnožavanja vezanih proba
(MLPA) za detekciju delecija, odnosno delecija i duplikacija u genu za distrofin. Rezultati.
Kod 31-og DMD/BMD probanda utvrđeno je 87,1% delecija i 12,9% duplikacija jednog ili
više egzona. Od 29 testiranih majki probanada, mutacije su nađene kod njih 17 (14 delecija
i 3 duplikacije). Mutacije su nađene kod 57,9% (11/19) majki probanada sa DMD
fenotipom i kod 60% majki probanada sa BMD. Takođe, kod probanada sa delecijom 56%
(14/25) majki su potvrđene kao nosioci, a kod probanada sa duplikacijom 3 od 4 majke
(75%). Od preostalih 9 ženskih srodnika, mutacije su nađene kod nijh 4. Prenatalnom
dijagnostikom utvrđene su delecije kod jednog muškog i jednog ženskog ploda iste majke.
Zaključak. Istraživanje je pokazalo da su majke bile nosioci u skoro 60% izolovanih
DMD/BMD slučajeva sa delecijama i duplikacijama. Takođe, učestalost majki nosioca kod
probanada sa duplikaciom (75%) se pokazala većom nego kod majki probanada sa
delecijom (56%). U slučaju majke koja je bila potvrđena kao nosilac, delecija je otkrivena
kod njena 2 ploda od 3 ispitana.",
publisher = "Vojnomedicinska akademija",
journal = "Vojnosanitetski pregled",
title = "The importance of direct genetic testing to determine female carriers in dystrophinopathies, Značaj direktnog genetičkog testiranja za utvrđivanje žena prenosioca kod distrofinopatija",
pages = "207-201",
number = "3",
volume = "80",
doi = "10.2298/VSP190208030SM"
}

Maksić, J., Maksimović, N., Rasulić, L., Milankov, O., Marjanović, A., Cvetković, D., Rakočević, V., Rakočević  Stojanović, V.,& Novaković, I.. (2023). The importance of direct genetic testing to determine female carriers in dystrophinopathies. in Vojnosanitetski pregled
Vojnomedicinska akademija., 80(3), 201-207.
https://doi.org/10.2298/VSP190208030SM

Maksić J, Maksimović N, Rasulić L, Milankov O, Marjanović A, Cvetković D, Rakočević V, Rakočević  Stojanović V, Novaković I. The importance of direct genetic testing to determine female carriers in dystrophinopathies. in Vojnosanitetski pregled. 2023;80(3):201-207.
doi:10.2298/VSP190208030SM .

Maksić, Jasmina, Maksimović, Nela, Rasulić, Lukas, Milankov, Olgica, Marjanović, Ana, Cvetković, Dragana, Rakočević, Vidosava, Rakočević  Stojanović, Vidosava, Novaković, Ivana, "The importance of direct genetic testing to determine female carriers in dystrophinopathies" in Vojnosanitetski pregled, 80, no. 3 (2023):201-207,
https://doi.org/10.2298/VSP190208030SM . .

TY  - JOUR
AU  - Janković, M.
AU  - Novaković, Ivana
AU  - Nikolić, D.
AU  - Maksić, Jasmina
AU  - Branković, S.
AU  - Petronić, I.
AU  - Cirović, D.
AU  - Ducić, S.
AU  - Grajić, M.
AU  - Bogićević, D.
PY  - 2021
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/1317
AB  - Diabetic neuropathy (DN), the most common chronic and progressive complication of diabetes mellitus (DM), strongly affects patients’ quality of life. DN could be present as peripheral, autonomous or, clinically also relevant, uremic neuropathy. The etiopathogenesis of DN is multifactorial, and genetic components play a role both in its occurrence and clinical course. A number of gene polymorphisms in candidate genes have been assessed as susceptibility factors for DN, and most of them are linked to mechanisms such as reactive oxygen species production, neurovascular impairments and modified protein glycosylation, as well as immunomodulation and inflammation. Different epigenomic mechanisms such as DNA methylation, histone modifications and non-coding RNA action have been studied in DN, which also underline the importance of “metabolic memory” in DN appearance and progression. In this review, we summarize most of the relevant data in the field of genetics and epigenomics of DN, hoping they will become significant for diagnosis, therapy and prevention of DN.
PB  - MDPI Ag
T2  - International Journal of Molecular Sciences
T1  - Genetic and epigenomic modifiers of diabetic neuropathy
IS  - 9
SP  - 4887
VL  - 22
DO  - 10.3390/ijms22094887
ER  - 

@article{
author = "Janković, M. and Novaković, Ivana and Nikolić, D. and Maksić, Jasmina and Branković, S. and Petronić, I. and Cirović, D. and Ducić, S. and Grajić, M. and Bogićević, D.",
year = "2021",
abstract = "Diabetic neuropathy (DN), the most common chronic and progressive complication of diabetes mellitus (DM), strongly affects patients’ quality of life. DN could be present as peripheral, autonomous or, clinically also relevant, uremic neuropathy. The etiopathogenesis of DN is multifactorial, and genetic components play a role both in its occurrence and clinical course. A number of gene polymorphisms in candidate genes have been assessed as susceptibility factors for DN, and most of them are linked to mechanisms such as reactive oxygen species production, neurovascular impairments and modified protein glycosylation, as well as immunomodulation and inflammation. Different epigenomic mechanisms such as DNA methylation, histone modifications and non-coding RNA action have been studied in DN, which also underline the importance of “metabolic memory” in DN appearance and progression. In this review, we summarize most of the relevant data in the field of genetics and epigenomics of DN, hoping they will become significant for diagnosis, therapy and prevention of DN.",
publisher = "MDPI Ag",
journal = "International Journal of Molecular Sciences",
title = "Genetic and epigenomic modifiers of diabetic neuropathy",
number = "9",
pages = "4887",
volume = "22",
doi = "10.3390/ijms22094887"
}

Janković, M., Novaković, I., Nikolić, D., Maksić, J., Branković, S., Petronić, I., Cirović, D., Ducić, S., Grajić, M.,& Bogićević, D.. (2021). Genetic and epigenomic modifiers of diabetic neuropathy. in International Journal of Molecular Sciences
MDPI Ag., 22(9), 4887.
https://doi.org/10.3390/ijms22094887

Janković M, Novaković I, Nikolić D, Maksić J, Branković S, Petronić I, Cirović D, Ducić S, Grajić M, Bogićević D. Genetic and epigenomic modifiers of diabetic neuropathy. in International Journal of Molecular Sciences. 2021;22(9):4887.
doi:10.3390/ijms22094887 .

Janković, M., Novaković, Ivana, Nikolić, D., Maksić, Jasmina, Branković, S., Petronić, I., Cirović, D., Ducić, S., Grajić, M., Bogićević, D., "Genetic and epigenomic modifiers of diabetic neuropathy" in International Journal of Molecular Sciences, 22, no. 9 (2021):4887,
https://doi.org/10.3390/ijms22094887 . .

TY  - JOUR
AU  - Maksić, Jasmina
AU  - Dobričić, Valerija
AU  - Rasulić, Lukas
AU  - Maksimović, Nela
AU  - Branković, Marija
AU  - Milić-Rašić, Vedrana
AU  - Rakočević-Stojanović, Vidosava
AU  - Novaković, Ivana
PY  - 2020
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/1261
AB  - Background/Aim. Duchenne muscular dystrophy (DMD) and its allelic form Becker muscular dystrophy (BMD) are X-linked diseases that affect males, characterized by progressive muscle and cardiopulmonary weakness, especially in DMD as a severe form of the disease. They result from mutations in the dystrophin gene, and the most common changes are large intragenic deletions and duplications (80%). One third of patients have de novo mutation and 2/3 of the mothers are estimated as carriers. The aim of the study was to analyze the frequency of duplications versus deletions in the dystrophin gene in patients with dystrophinopathies, as well as to analyze the phenotypic effect of large mutations obtained and to determine the carrier status of female relatives in probands with duplications. Methods. We examined 22 DMD and 35 BMD unrelated patients and 6 female relatives of the probands where duplications were found. We used polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) methods, according to the protocol, to detect or confirm mutations in probands and female carriers. Results. In probands, there were 34 (59.6%) large deletions (mostly affected exons 44-60) and 6 (10.5%) large duplications in 4 DMD and 2 BMD patients. Also, duplications were found in 3 out of 4 (75%) tested mothers. The distribution of duplications was heterogeneous, affecting N-terminal and central rod domain, and included more exons, except for one DMD patient who had duplication of exon 2. An exception from the Monaco rule was present in 9.5% of DMD and 15.8% of BMD probands, i.e. in 12.5% of DMD/BMD cases. Conclusion. In 57 DMD/BMD probands, we found 59.6% of large deletions and 10.5% of large duplications. The most affected region of the DMD gene was the central rod domain. An exception to Monaco's rule was present in 12.5% of DMD/BMD cases. Three out of 4 examined proband's mothers were confirmed as carriers.
AB  - Uvod/Cilj. Dišenova mišićna distrofija (DMD) i njegova alelna forma, Bekerova mišićna distrofija (BMD), su Xvezane nasledne bolesti od kojih obolevaju muškarci, a karakteriše ih progresivna mišićna i kardiopulmonalna slabost, posebno kod DMD kao težeg oblika bolesti. Ove bolesti nastaju kao posledica mutacija u genu za distrofin, a najčešće su prisutne intragenske delecije i duplikacije (80%). Novonastalu mutaciju ima1/3 bolesnika, a procenjeno je da su 2/3 majki nosioci. Cilj rada je bio da se analizira učestalost duplikacija u odnosu na delecije u genu za distrofin kod bolesnika sa distrofinopatijom, kao i da se ispita efekat dobijenih mutacija na fenotip kod probanda i utvrdimo status nosioca kod ženskih srodnika probanda sa duplikacijama. Metode. Studijom je bilo obuhvaćeno 22 DMD i 35 BMD nesrodnih bolesnika i šest ženskih srodnika probanda kod kojih su bile otkrivene duplikacije. Za otkrivanje ili potvrdu mutacije, kod probanda i ženskih nosioca, korišćene su metode: lančana reakcija polimerazom (PCR) i višestruko umnožavanje vezanih sondi (MLPA), prema datom protokolu. Rezultati. Kod probanda je nađeno 34 (59,6%) velikih delecija (najčešće su bili zahvaćeni egzoni 44-60) i 6 velikih duplikacija (10,5%) kod 4 DMD i 2 BMD bolesnika. Takođe, duplikacije su nađene kod 3 od 4 (75%) testirane majke. Distribucija duplikacija je bila heterogena, obuhvatala je N-terminalni i štapićasti region i uključivala je veći broj egzona, osim kod jednog DMD bolesnika koji je imao duplikaciju egzona 2. Odstupanje od Monakovog pravila je bilo prisutno kod 9,5% DMD probanda, odnosno kod 15,8% BMD probanda, to jest kod 12,5% slučajeva. Zaključak. Kod 57 DMD/BMD probanda nađeno je 59,6% velikih delecija i 10,5% velikih duplikacija. Najčešće je bio zahvaćen štapićasti domen u DMD genu. Odstupanje od Monakovog pravila je bilo prisutno u 12,5% DMD/BMD slučajeva. Tri od četiri ispitane majke probanda su bile potvrđene kao nosioci.
PB  - Vojnomedicinska akademija - Institut za naučne informacije, Beograd
T2  - Vojnosanitetski pregled
T1  - Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies
T1  - Uporedna analiza duplikacija i delecija u genu za distrofin u grupi bolesnika sa distrofinopatijom iz Srbije
EP  - 394
IS  - 4
SP  - 387
VL  - 77
DO  - 10.2298/VSP180226089M
ER  - 

@article{
author = "Maksić, Jasmina and Dobričić, Valerija and Rasulić, Lukas and Maksimović, Nela and Branković, Marija and Milić-Rašić, Vedrana and Rakočević-Stojanović, Vidosava and Novaković, Ivana",
year = "2020",
abstract = "Background/Aim. Duchenne muscular dystrophy (DMD) and its allelic form Becker muscular dystrophy (BMD) are X-linked diseases that affect males, characterized by progressive muscle and cardiopulmonary weakness, especially in DMD as a severe form of the disease. They result from mutations in the dystrophin gene, and the most common changes are large intragenic deletions and duplications (80%). One third of patients have de novo mutation and 2/3 of the mothers are estimated as carriers. The aim of the study was to analyze the frequency of duplications versus deletions in the dystrophin gene in patients with dystrophinopathies, as well as to analyze the phenotypic effect of large mutations obtained and to determine the carrier status of female relatives in probands with duplications. Methods. We examined 22 DMD and 35 BMD unrelated patients and 6 female relatives of the probands where duplications were found. We used polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) methods, according to the protocol, to detect or confirm mutations in probands and female carriers. Results. In probands, there were 34 (59.6%) large deletions (mostly affected exons 44-60) and 6 (10.5%) large duplications in 4 DMD and 2 BMD patients. Also, duplications were found in 3 out of 4 (75%) tested mothers. The distribution of duplications was heterogeneous, affecting N-terminal and central rod domain, and included more exons, except for one DMD patient who had duplication of exon 2. An exception from the Monaco rule was present in 9.5% of DMD and 15.8% of BMD probands, i.e. in 12.5% of DMD/BMD cases. Conclusion. In 57 DMD/BMD probands, we found 59.6% of large deletions and 10.5% of large duplications. The most affected region of the DMD gene was the central rod domain. An exception to Monaco's rule was present in 12.5% of DMD/BMD cases. Three out of 4 examined proband's mothers were confirmed as carriers., Uvod/Cilj. Dišenova mišićna distrofija (DMD) i njegova alelna forma, Bekerova mišićna distrofija (BMD), su Xvezane nasledne bolesti od kojih obolevaju muškarci, a karakteriše ih progresivna mišićna i kardiopulmonalna slabost, posebno kod DMD kao težeg oblika bolesti. Ove bolesti nastaju kao posledica mutacija u genu za distrofin, a najčešće su prisutne intragenske delecije i duplikacije (80%). Novonastalu mutaciju ima1/3 bolesnika, a procenjeno je da su 2/3 majki nosioci. Cilj rada je bio da se analizira učestalost duplikacija u odnosu na delecije u genu za distrofin kod bolesnika sa distrofinopatijom, kao i da se ispita efekat dobijenih mutacija na fenotip kod probanda i utvrdimo status nosioca kod ženskih srodnika probanda sa duplikacijama. Metode. Studijom je bilo obuhvaćeno 22 DMD i 35 BMD nesrodnih bolesnika i šest ženskih srodnika probanda kod kojih su bile otkrivene duplikacije. Za otkrivanje ili potvrdu mutacije, kod probanda i ženskih nosioca, korišćene su metode: lančana reakcija polimerazom (PCR) i višestruko umnožavanje vezanih sondi (MLPA), prema datom protokolu. Rezultati. Kod probanda je nađeno 34 (59,6%) velikih delecija (najčešće su bili zahvaćeni egzoni 44-60) i 6 velikih duplikacija (10,5%) kod 4 DMD i 2 BMD bolesnika. Takođe, duplikacije su nađene kod 3 od 4 (75%) testirane majke. Distribucija duplikacija je bila heterogena, obuhvatala je N-terminalni i štapićasti region i uključivala je veći broj egzona, osim kod jednog DMD bolesnika koji je imao duplikaciju egzona 2. Odstupanje od Monakovog pravila je bilo prisutno kod 9,5% DMD probanda, odnosno kod 15,8% BMD probanda, to jest kod 12,5% slučajeva. Zaključak. Kod 57 DMD/BMD probanda nađeno je 59,6% velikih delecija i 10,5% velikih duplikacija. Najčešće je bio zahvaćen štapićasti domen u DMD genu. Odstupanje od Monakovog pravila je bilo prisutno u 12,5% DMD/BMD slučajeva. Tri od četiri ispitane majke probanda su bile potvrđene kao nosioci.",
publisher = "Vojnomedicinska akademija - Institut za naučne informacije, Beograd",
journal = "Vojnosanitetski pregled",
title = "Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies, Uporedna analiza duplikacija i delecija u genu za distrofin u grupi bolesnika sa distrofinopatijom iz Srbije",
pages = "394-387",
number = "4",
volume = "77",
doi = "10.2298/VSP180226089M"
}

Maksić, J., Dobričić, V., Rasulić, L., Maksimović, N., Branković, M., Milić-Rašić, V., Rakočević-Stojanović, V.,& Novaković, I.. (2020). Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies. in Vojnosanitetski pregled
Vojnomedicinska akademija - Institut za naučne informacije, Beograd., 77(4), 387-394.
https://doi.org/10.2298/VSP180226089M

Maksić J, Dobričić V, Rasulić L, Maksimović N, Branković M, Milić-Rašić V, Rakočević-Stojanović V, Novaković I. Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies. in Vojnosanitetski pregled. 2020;77(4):387-394.
doi:10.2298/VSP180226089M .

Maksić, Jasmina, Dobričić, Valerija, Rasulić, Lukas, Maksimović, Nela, Branković, Marija, Milić-Rašić, Vedrana, Rakočević-Stojanović, Vidosava, Novaković, Ivana, "Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies" in Vojnosanitetski pregled, 77, no. 4 (2020):387-394,
https://doi.org/10.2298/VSP180226089M . .

TY  - CONF
AU  - Maksić, Jasmina
AU  - Novaković, Ivana
AU  - Rapaić, Dragan
AU  - Mitrović, Mirjana
PY  - 2019
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/3165
AB  - Dišenova i Bekerova mišićna distrofija (DMD i BMD) su progresivne mišićne
bolesti koje nastaju usled mutacija u genu za distrofin. Gen za distrofin (DMD
gen, Xp21.1) je veličine 2,4MB i podložan je promenama u strukturi. Najčešće
su prisutne intragenske delecije (65-70%) jednog ili više egzona, sa specifičnom
distribucijom u genu (egzoni 2-20 i egzoni 45-55) i duplikacije (5-15%), a
ostatak čine male mutacije – tačkaste mutacije, mikroinsercije, mikrodelecije i
splice-site mutacije. Procenjeno je da 1/3 DMD bolesnika ima de novo mutaciju,
a da su u 2/3 slučajeva majke prenosioci mutacije. Genska dijagnoza DMD/
BMD se može postaviti primenom direktne ili indirektne molekularno genetičke
analize. Metoda lančane reakcije polimerizacije (PCR) je direktna metoda
koja omogućuje detekciju oko 98% svih delecija otkrivenih u DMD genu.
Ipak, ovom metodom se ne mogu otkriti delecije van predilekcionih regiona
gena, kao ni duplikacije, i nije korisna kod detekcije žena prenosioca mutacije.
Metoda višestrukog umnožavanja vezanih proba (MLPA) je omogućila kvantitativnu
analizu gena i otkrivanje delecija i van predilekcionih regiona gena,
kao i duplikacija, kako kod obolelih tako i kod žena prenosioca mutacije, pa je
postala standard u DMD/BMD dijagnozi. Kada se ovim metodama ne otkriju
delecije i duplikacije u genu za distrofin, u cilju traganja za tačkastim mutacijama,
ispitivanje se nastavlja metodom sekvenciranja DNK. Ipak, zbog izuzetne
veličine gena i slučajnog rasporeda tačkastih mutacija može se prvo primeniti
analiza vezanosti kao indirektana dijagnostička metoda. Ona podrazumeva
praćenje nasleđivanja rizičinog hromozoma kod ženskih i muških članova u
porodici, putem praćenja polimorfnih DNK markera koji se nalaze u okviru
DMD gena, ili u njegovoj blizini. Ograničenja metode su postojanje neinformativnih
genotipova, rekombinacije u DMD genu, a zahteva i ispitivanje više
članova u porodici. Postavljanje precizne dijagnoze kod obolelog i otkrivanje žena prenosioca mutacije je od značaja za davanje adekvatnog genetičkog
saveta i sprovođenje prenatalne dijagnoze.
AB  - Duchenne and Becker muscular dystrophy (DMD and BMD) are progressive muscle
diseases that result from mutations in the dystrophin gene. The dystrophin gene (DMD gene,
Xp21.1) is 2.4MB in size and subject to changes the structure. Most common are intragenous
deletions (65-70%) of one or more exons, with specific distribution in the gene (exons 2-20
and exons 45-55) and duplication (5-15%), and the rest are small mutations - point mutations,
microinsertions, microdeletions, and splice-site mutations. It is estimated that 1/3 of DMD
patients have de novo mutation, while in 2/3 of cases the mother is a carrier. The gene
diagnosis of DMD/BMD can be made using direct or indirect molecular genetic analysis.
The polymerase chain reaction (PCR) method is a direct method that allows detection of about 98% of all deletions detected in the DMD gene. However, this method cannot detect
deletions outside the predilection regions of the gene, nor duplication, and is not useful in
the detection of female carriers. Multiplex ligation-dependent probe amplification (MLPA)
enabled quantitative gene analysis and detection of deletions outside the predilection
regions of the gene as well as duplication, both in patients and in the female carrier of
mutations, and became a standard in DMD/BMD diagnosis. When these methods do not
find deletions and duplications in the dystrophin gene, in order to search for point mutations,
the test continues with the DNA sequencing method. However, due to the exceptional size
of the gene and the random arrangement of point mutations, the linkage analysis can be
applied first as an indirect diagnostic method. It involves monitoring the inheritance of risky
chromosomes in males and females in the family, by monitoring polymorphic DNA markers
within the DMD gene, or in its surroundings. Method limitations are the existence of noninformative
genotypes, recombination in the DMD gene, and it requires the analysis of more
family members. The precise diagnosis of affected men and the detection of women who are
carriers is important for giving adequate genetic advice and carrying out prenatal diagnosis.
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019.
T1  - Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca
T1  - Gene diagnosis of duchenne and becker muscular
dystrophy and carrier detection
EP  - 143
SP  - 137
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_3165
ER  - 

@conference{
author = "Maksić, Jasmina and Novaković, Ivana and Rapaić, Dragan and Mitrović, Mirjana",
year = "2019",
abstract = "Dišenova i Bekerova mišićna distrofija (DMD i BMD) su progresivne mišićne
bolesti koje nastaju usled mutacija u genu za distrofin. Gen za distrofin (DMD
gen, Xp21.1) je veličine 2,4MB i podložan je promenama u strukturi. Najčešće
su prisutne intragenske delecije (65-70%) jednog ili više egzona, sa specifičnom
distribucijom u genu (egzoni 2-20 i egzoni 45-55) i duplikacije (5-15%), a
ostatak čine male mutacije – tačkaste mutacije, mikroinsercije, mikrodelecije i
splice-site mutacije. Procenjeno je da 1/3 DMD bolesnika ima de novo mutaciju,
a da su u 2/3 slučajeva majke prenosioci mutacije. Genska dijagnoza DMD/
BMD se može postaviti primenom direktne ili indirektne molekularno genetičke
analize. Metoda lančane reakcije polimerizacije (PCR) je direktna metoda
koja omogućuje detekciju oko 98% svih delecija otkrivenih u DMD genu.
Ipak, ovom metodom se ne mogu otkriti delecije van predilekcionih regiona
gena, kao ni duplikacije, i nije korisna kod detekcije žena prenosioca mutacije.
Metoda višestrukog umnožavanja vezanih proba (MLPA) je omogućila kvantitativnu
analizu gena i otkrivanje delecija i van predilekcionih regiona gena,
kao i duplikacija, kako kod obolelih tako i kod žena prenosioca mutacije, pa je
postala standard u DMD/BMD dijagnozi. Kada se ovim metodama ne otkriju
delecije i duplikacije u genu za distrofin, u cilju traganja za tačkastim mutacijama,
ispitivanje se nastavlja metodom sekvenciranja DNK. Ipak, zbog izuzetne
veličine gena i slučajnog rasporeda tačkastih mutacija može se prvo primeniti
analiza vezanosti kao indirektana dijagnostička metoda. Ona podrazumeva
praćenje nasleđivanja rizičinog hromozoma kod ženskih i muških članova u
porodici, putem praćenja polimorfnih DNK markera koji se nalaze u okviru
DMD gena, ili u njegovoj blizini. Ograničenja metode su postojanje neinformativnih
genotipova, rekombinacije u DMD genu, a zahteva i ispitivanje više
članova u porodici. Postavljanje precizne dijagnoze kod obolelog i otkrivanje žena prenosioca mutacije je od značaja za davanje adekvatnog genetičkog
saveta i sprovođenje prenatalne dijagnoze., Duchenne and Becker muscular dystrophy (DMD and BMD) are progressive muscle
diseases that result from mutations in the dystrophin gene. The dystrophin gene (DMD gene,
Xp21.1) is 2.4MB in size and subject to changes the structure. Most common are intragenous
deletions (65-70%) of one or more exons, with specific distribution in the gene (exons 2-20
and exons 45-55) and duplication (5-15%), and the rest are small mutations - point mutations,
microinsertions, microdeletions, and splice-site mutations. It is estimated that 1/3 of DMD
patients have de novo mutation, while in 2/3 of cases the mother is a carrier. The gene
diagnosis of DMD/BMD can be made using direct or indirect molecular genetic analysis.
The polymerase chain reaction (PCR) method is a direct method that allows detection of about 98% of all deletions detected in the DMD gene. However, this method cannot detect
deletions outside the predilection regions of the gene, nor duplication, and is not useful in
the detection of female carriers. Multiplex ligation-dependent probe amplification (MLPA)
enabled quantitative gene analysis and detection of deletions outside the predilection
regions of the gene as well as duplication, both in patients and in the female carrier of
mutations, and became a standard in DMD/BMD diagnosis. When these methods do not
find deletions and duplications in the dystrophin gene, in order to search for point mutations,
the test continues with the DNA sequencing method. However, due to the exceptional size
of the gene and the random arrangement of point mutations, the linkage analysis can be
applied first as an indirect diagnostic method. It involves monitoring the inheritance of risky
chromosomes in males and females in the family, by monitoring polymorphic DNA markers
within the DMD gene, or in its surroundings. Method limitations are the existence of noninformative
genotypes, recombination in the DMD gene, and it requires the analysis of more
family members. The precise diagnosis of affected men and the detection of women who are
carriers is important for giving adequate genetic advice and carrying out prenatal diagnosis.",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019.",
title = "Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca, Gene diagnosis of duchenne and becker muscular
dystrophy and carrier detection",
pages = "143-137",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_3165"
}

Maksić, J., Novaković, I., Rapaić, D.,& Mitrović, M.. (2019). Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca. in Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019.
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 137-143.
https://hdl.handle.net/21.15107/rcub_rfasper_3165

Maksić J, Novaković I, Rapaić D, Mitrović M. Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca. in Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019.. 2019;:137-143.
https://hdl.handle.net/21.15107/rcub_rfasper_3165 .

Maksić, Jasmina, Novaković, Ivana, Rapaić, Dragan, Mitrović, Mirjana, "Genska dijagnoza kod Dišenove i Bekerove mišićne distrofije i detekcija prenosioca" in Zbornik radova - 10. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 25–26. 10.2019. (2019):137-143,
https://hdl.handle.net/21.15107/rcub_rfasper_3165 .

TY  - JOUR
AU  - Svetel, Marina
AU  - Hartig, Monika
AU  - Cvetković, Dragana
AU  - Beaubois, Cyrielle
AU  - Maksić, Jasmina
AU  - Novaković, Ivana
AU  - Krajinović, Maja
AU  - Kostić, Vladimir
PY  - 2019
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/1206
AB  - Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a key regulatory enzyme in the biosynthesis of coenzyme A. We previously detected six Serbian patients with clinically suggestive PKAN, all of whom had PANK2 c.1583C>T (p.T528M) mutation either in the homozygous or in the heterozygous state. In this study we explored the phenotypic expression and a possible founder effect of this substitution. We performed the analysis of linkage disequilibrium (LD) and organization in haplotypes of 23 single nucleotide polymorphisms (SNPs) adjacent to the PANK2 gene in all of the six patients and their parents, as well as in control healthy child-parents trios. The age of PANK2 c.1583C>T mutation was determined using the r(2) degeneration method. Clinical findings in our patients were markedly similar. Different LD structures between patients and controls is revealed, and PANK2 c.1583T allele was significantly associated with a particular haplotype. The age of PANK2 c.1583C>T mutation was estimated to be about 15 generations. Our results suggest that PANK2 c.1583C>T in Serbian PKAN patients represents a founder mutation descended from one common ancestor.
PB  - Srpsko biološko društvo, Beograd, i dr.
T2  - Archives of Biological Sciences
T1  - Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients
EP  - 280
IS  - 2
SP  - 275
VL  - 71
DO  - 10.2298/ABS181227009S
ER  - 

@article{
author = "Svetel, Marina and Hartig, Monika and Cvetković, Dragana and Beaubois, Cyrielle and Maksić, Jasmina and Novaković, Ivana and Krajinović, Maja and Kostić, Vladimir",
year = "2019",
abstract = "Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a key regulatory enzyme in the biosynthesis of coenzyme A. We previously detected six Serbian patients with clinically suggestive PKAN, all of whom had PANK2 c.1583C>T (p.T528M) mutation either in the homozygous or in the heterozygous state. In this study we explored the phenotypic expression and a possible founder effect of this substitution. We performed the analysis of linkage disequilibrium (LD) and organization in haplotypes of 23 single nucleotide polymorphisms (SNPs) adjacent to the PANK2 gene in all of the six patients and their parents, as well as in control healthy child-parents trios. The age of PANK2 c.1583C>T mutation was determined using the r(2) degeneration method. Clinical findings in our patients were markedly similar. Different LD structures between patients and controls is revealed, and PANK2 c.1583T allele was significantly associated with a particular haplotype. The age of PANK2 c.1583C>T mutation was estimated to be about 15 generations. Our results suggest that PANK2 c.1583C>T in Serbian PKAN patients represents a founder mutation descended from one common ancestor.",
publisher = "Srpsko biološko društvo, Beograd, i dr.",
journal = "Archives of Biological Sciences",
title = "Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients",
pages = "280-275",
number = "2",
volume = "71",
doi = "10.2298/ABS181227009S"
}

Svetel, M., Hartig, M., Cvetković, D., Beaubois, C., Maksić, J., Novaković, I., Krajinović, M.,& Kostić, V.. (2019). Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients. in Archives of Biological Sciences
Srpsko biološko društvo, Beograd, i dr.., 71(2), 275-280.
https://doi.org/10.2298/ABS181227009S

Svetel M, Hartig M, Cvetković D, Beaubois C, Maksić J, Novaković I, Krajinović M, Kostić V. Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients. in Archives of Biological Sciences. 2019;71(2):275-280.
doi:10.2298/ABS181227009S .

Svetel, Marina, Hartig, Monika, Cvetković, Dragana, Beaubois, Cyrielle, Maksić, Jasmina, Novaković, Ivana, Krajinović, Maja, Kostić, Vladimir, "Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients" in Archives of Biological Sciences, 71, no. 2 (2019):275-280,
https://doi.org/10.2298/ABS181227009S . .

TY  - JOUR
AU  - Veselinović, Nikola
AU  - Pavlović, Aleksandra M.
AU  - Petrović, Boris
AU  - Ristić, Aleksandar
AU  - Novaković, Ivana
AU  - Svabic-Medjedović, Tamara
AU  - Pavlović, Dragan
AU  - Šternić, Nadežda
PY  - 2014
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/863
AB  - Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease caused by conformational alteration of the ubiquitous prion protein. Sporadic CJD appears to progress faster if the basal ganglia are shown to be affected on magnetic resonance imaging. Transcranial B-mode sonography (TCS) enables visualization of differences in tissue echogenicity, which can be associated with changes in the cerebral metabolism of various metals. These metabolic changes are considered 1 of the potential mechanisms of the brain damage in CJD; TCS hyperechogenicity may reflect changes in metal homeostasis in CJD. We report a 63-year-old woman who presented with typical sporadic CJD. One month after she fell ill, a magnetic resonance imaging scan of her brain showed diffuse cortical but no obvious basal ganglia involvement. However, TCS revealed moderate hyperechogenicity of both lentiform nuclei. The patient's disease progressed quickly and she died 2 months later. TCS may show basal ganglia alteration early in the disease course of patients with quickly progressing CJD, thus aiding in premortem diagnosis.
PB  - Lippincott Williams & Wilkins, Philadelphia
T2  - Cognitive and Behavioral Neurology
T1  - Altered Basal Ganglia Echogenicity Early in Sporadic Creutzfeldt-Jakob Disease
EP  - 50
IS  - 1
SP  - 48
VL  - 27
DO  - 10.1097/WNN.0000000000000015
ER  - 

@article{
author = "Veselinović, Nikola and Pavlović, Aleksandra M. and Petrović, Boris and Ristić, Aleksandar and Novaković, Ivana and Svabic-Medjedović, Tamara and Pavlović, Dragan and Šternić, Nadežda",
year = "2014",
abstract = "Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease caused by conformational alteration of the ubiquitous prion protein. Sporadic CJD appears to progress faster if the basal ganglia are shown to be affected on magnetic resonance imaging. Transcranial B-mode sonography (TCS) enables visualization of differences in tissue echogenicity, which can be associated with changes in the cerebral metabolism of various metals. These metabolic changes are considered 1 of the potential mechanisms of the brain damage in CJD; TCS hyperechogenicity may reflect changes in metal homeostasis in CJD. We report a 63-year-old woman who presented with typical sporadic CJD. One month after she fell ill, a magnetic resonance imaging scan of her brain showed diffuse cortical but no obvious basal ganglia involvement. However, TCS revealed moderate hyperechogenicity of both lentiform nuclei. The patient's disease progressed quickly and she died 2 months later. TCS may show basal ganglia alteration early in the disease course of patients with quickly progressing CJD, thus aiding in premortem diagnosis.",
publisher = "Lippincott Williams & Wilkins, Philadelphia",
journal = "Cognitive and Behavioral Neurology",
title = "Altered Basal Ganglia Echogenicity Early in Sporadic Creutzfeldt-Jakob Disease",
pages = "50-48",
number = "1",
volume = "27",
doi = "10.1097/WNN.0000000000000015"
}

Veselinović, N., Pavlović, A. M., Petrović, B., Ristić, A., Novaković, I., Svabic-Medjedović, T., Pavlović, D.,& Šternić, N.. (2014). Altered Basal Ganglia Echogenicity Early in Sporadic Creutzfeldt-Jakob Disease. in Cognitive and Behavioral Neurology
Lippincott Williams & Wilkins, Philadelphia., 27(1), 48-50.
https://doi.org/10.1097/WNN.0000000000000015

Veselinović N, Pavlović AM, Petrović B, Ristić A, Novaković I, Svabic-Medjedović T, Pavlović D, Šternić N. Altered Basal Ganglia Echogenicity Early in Sporadic Creutzfeldt-Jakob Disease. in Cognitive and Behavioral Neurology. 2014;27(1):48-50.
doi:10.1097/WNN.0000000000000015 .

Veselinović, Nikola, Pavlović, Aleksandra M., Petrović, Boris, Ristić, Aleksandar, Novaković, Ivana, Svabic-Medjedović, Tamara, Pavlović, Dragan, Šternić, Nadežda, "Altered Basal Ganglia Echogenicity Early in Sporadic Creutzfeldt-Jakob Disease" in Cognitive and Behavioral Neurology, 27, no. 1 (2014):48-50,
https://doi.org/10.1097/WNN.0000000000000015 . .

TY  - CONF
AU  - Novaković, Ivana
AU  - Maksić, Jasmina
PY  - 2014
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/4249
AB  - U cilju rane dijagnostike i prevencije naslednih poremećaja, proteklih
decenija su na raspolaganju bile različite metode. Analize genetičkog materijala
su se kretale od klasične citogenetičke obrade kariotipa radi uočavanja
numeričkih i strukturnih aberacija hromozoma, do najfinijih ispitivanja za
detektuju genskih mutacija na molekularnom nivou. Poslednjih godina razvijaju
se potpuno nove metode za brzu, efikasnu i dostupnu analizu naslednog
materijala, koje su poznate kao “next generation sequencing” (NGS)
ili nova generacija metoda za sekvenciranje DNK. Ove metode omogućavaju
ispitivanje ne samo pojedinačnih gena ili delova gena nego i većeg broja
segmenata, sve do kompletne nasledne osnove tj. čitavog genoma čoveka.
Primena ovakvog pristupa dovodi do prave tihe revolucije u medicinskoj
genetici i disciplinama sa kojima ona sarađuje, nagoveštavajući promenu
u konceptu dijagnostike naslednih poremećaja. U prenatalnoj dijagnostici
NGS je već našla primenu u potpuno neinvazivnoj detekciji najčešćih hromozomskih
aberacija (Daunov, Edvardsov, Patau sindrom, aberacije polnih
hromozoma) analizom fetalnih ćelija prisutnih u krvi majke. Test NIFTY
već je dostupan i trudnicama u našoj sredini. U postnatalnom periodu NGS
se koristi za ispitivanje odabranih panela gena, ili, po potrebi, čitavog genoma/
egzoma, sve sa ciljem što efikasnije dijagnostike pre svega monogenskih,
ali i oligogenskih i poligenskih bolesti.
Predlaže se čak da analiza kompletnog genoma postane deo neonatalnog
skriniga, ali za sada to nije prihvaćeno. Nesumnjivo je da rezultati NGS
donose veliki napredak medicinsko − genetičkoj praksi, ali i rađaju nove
etičke dileme u oblasti rane detekcije naslednih poremećaja i intervencije
kod ovih stanja.
AB  - In order to early diagnostics and prevention of hereditary disorders, past decades
have been brought different methods. Analysis of genetic material ranged from
classical cytogentic karyotype analysis for processing numerical and structural
chromosomalaberratios, by most sophisticated examination of manor gene mutation
on molecular level. In recent years develop completely new methods for rapid, efficient
and publicly available analysis of inheritance material, that are known as the “next”
button generation sequencing” (NGS). These methods allow for examination not only
individual genes or parts of genes but also a larger number of segments, all up to complete
inherited basis i.e. the entire human genome research. Implementation of this approach
leads to genuine silent revolution in medical genetics and disciplines with which it cooperate,
suggesting a change in the concept of heritage disorders diagnosing. In prenatal
diagnostics NGS has already found application in completely noninvsive detection
of chromosomal aberrations (Down, Edwards, Patau syndrome, sex chromosomes
aberration) by analysis of fetal cells present in mother’s blood. Such tests (i.e. NIFTY)
are already available and for pregnant women in our country. In postnatal period NGS
is used for the examination of selected genes by gene panels, or, if necessary, the entire
genome/exome research, all with the aim as efficient diagnostics primarily monogenic,
but oligogenic and polygenic diseases also. It is proposed that the analysis of even
complete genome become part of neonatal screening, but for now it is not accepted yet. It
is undeniable that the results of NGS make a great progress in medical − genetic practice,
but gained new ethical dilemmas in the field of early detection of hereditary disorders
and intervention in these situations
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
C3  - Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014
T1  - Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja
T1  - Implementation of the next generation sequencing (ngs) methods in early diagnosis of heritable diseases
EP  - 39
SP  - 35
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_4249
ER  - 

@conference{
author = "Novaković, Ivana and Maksić, Jasmina",
year = "2014",
abstract = "U cilju rane dijagnostike i prevencije naslednih poremećaja, proteklih
decenija su na raspolaganju bile različite metode. Analize genetičkog materijala
su se kretale od klasične citogenetičke obrade kariotipa radi uočavanja
numeričkih i strukturnih aberacija hromozoma, do najfinijih ispitivanja za
detektuju genskih mutacija na molekularnom nivou. Poslednjih godina razvijaju
se potpuno nove metode za brzu, efikasnu i dostupnu analizu naslednog
materijala, koje su poznate kao “next generation sequencing” (NGS)
ili nova generacija metoda za sekvenciranje DNK. Ove metode omogućavaju
ispitivanje ne samo pojedinačnih gena ili delova gena nego i većeg broja
segmenata, sve do kompletne nasledne osnove tj. čitavog genoma čoveka.
Primena ovakvog pristupa dovodi do prave tihe revolucije u medicinskoj
genetici i disciplinama sa kojima ona sarađuje, nagoveštavajući promenu
u konceptu dijagnostike naslednih poremećaja. U prenatalnoj dijagnostici
NGS je već našla primenu u potpuno neinvazivnoj detekciji najčešćih hromozomskih
aberacija (Daunov, Edvardsov, Patau sindrom, aberacije polnih
hromozoma) analizom fetalnih ćelija prisutnih u krvi majke. Test NIFTY
već je dostupan i trudnicama u našoj sredini. U postnatalnom periodu NGS
se koristi za ispitivanje odabranih panela gena, ili, po potrebi, čitavog genoma/
egzoma, sve sa ciljem što efikasnije dijagnostike pre svega monogenskih,
ali i oligogenskih i poligenskih bolesti.
Predlaže se čak da analiza kompletnog genoma postane deo neonatalnog
skriniga, ali za sada to nije prihvaćeno. Nesumnjivo je da rezultati NGS
donose veliki napredak medicinsko − genetičkoj praksi, ali i rađaju nove
etičke dileme u oblasti rane detekcije naslednih poremećaja i intervencije
kod ovih stanja., In order to early diagnostics and prevention of hereditary disorders, past decades
have been brought different methods. Analysis of genetic material ranged from
classical cytogentic karyotype analysis for processing numerical and structural
chromosomalaberratios, by most sophisticated examination of manor gene mutation
on molecular level. In recent years develop completely new methods for rapid, efficient
and publicly available analysis of inheritance material, that are known as the “next”
button generation sequencing” (NGS). These methods allow for examination not only
individual genes or parts of genes but also a larger number of segments, all up to complete
inherited basis i.e. the entire human genome research. Implementation of this approach
leads to genuine silent revolution in medical genetics and disciplines with which it cooperate,
suggesting a change in the concept of heritage disorders diagnosing. In prenatal
diagnostics NGS has already found application in completely noninvsive detection
of chromosomal aberrations (Down, Edwards, Patau syndrome, sex chromosomes
aberration) by analysis of fetal cells present in mother’s blood. Such tests (i.e. NIFTY)
are already available and for pregnant women in our country. In postnatal period NGS
is used for the examination of selected genes by gene panels, or, if necessary, the entire
genome/exome research, all with the aim as efficient diagnostics primarily monogenic,
but oligogenic and polygenic diseases also. It is proposed that the analysis of even
complete genome become part of neonatal screening, but for now it is not accepted yet. It
is undeniable that the results of NGS make a great progress in medical − genetic practice,
but gained new ethical dilemmas in the field of early detection of hereditary disorders
and intervention in these situations",
publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014",
title = "Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja, Implementation of the next generation sequencing (ngs) methods in early diagnosis of heritable diseases",
pages = "39-35",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_4249"
}

Novaković, I.,& Maksić, J.. (2014). Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja. in Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014
Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 35-39.
https://hdl.handle.net/21.15107/rcub_rfasper_4249

Novaković I, Maksić J. Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja. in Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014. 2014;:35-39.
https://hdl.handle.net/21.15107/rcub_rfasper_4249 .

Novaković, Ivana, Maksić, Jasmina, "Primena nove generacije metoda za sekvenciranje dnk (next generation sequencing) u ranoj dijagnostici naslednih poremećaja" in Zbornik radova - 8. Međunarodni naučni skup „Specijalna edukacija i rehabilitacija danas“, Beograd, Srbija, 7-9. 11. 2014 (2014):35-39,
https://hdl.handle.net/21.15107/rcub_rfasper_4249 .