Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing

Autor: Natália D. Linhares, Piotr Wilk, Elżbieta Wątor, Meire A. Tostes, Manfred S. Weiss, Sergio D. J. Pena

Publikováno v: Genetics and Molecular Biology, Vol 44, Iss 2 (2021)

Abstract Prolidase Deficiency (PD) is an autosomal recessive rare disorder caused by loss or reduction of prolidase enzymatic activity due to variants in the PEPD gene. PD clinical features vary among affected individuals: skin ulcerations, recurrent

Externí odkaz: https://doaj.org/article/095834c498af4c0997716394a8aa051c

Familial STAG2 germline mutation defines a new human cohesinopathy

Autor: Fernanda C. Soardi, Alice Machado-Silva, Natália D. Linhares, Ge Zheng, Qianhui Qu, Heloísa B. Pena, Thaís M. M. Martins, Helaine G. S. Vieira, Núbia B. Pereira, Raquel C. Melo-Minardi, Carolina C. Gomes, Ricardo S. Gomez, Dawidson A. Gomes, Douglas E. V. Pires, David B. Ascher, Hongtao Yu, Sérgio D. J. Pena

Publikováno v: npj Genomic Medicine, Vol 2, Iss 1, Pp 1-11 (2017)

Intellectual disability: mutation in cell cycle protein causes developmental disease A newly discovered developmental disease is characterized by mutations in a subunit of the cohesin protein involved in cell division. A team led by Sérgio Pena from

Externí odkaz: https://doaj.org/article/3329248fd048435d97c88eef013b1831

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Autor: Eugênia Ribeiro Valadares, Kaitlyn M Shen, Sérgio D.J. Pena, Alanna Strong, Dong Li, Natália D. Linhares, David Cassiman, Elaine H. Zackai, Deindl Philipp, Penny Chow, Arupa Ganguly, Jaak Jaeken, Samantha A. Schrier Vergano, Maria Van Dyck, Tatjana Bierhals, Tiancheng Wang, Elizabeth J. Bhoj, Hakon Hakonarson, Anne Hing, Tasja Scholz

Publikováno v: Genetics in Medicine. 23:637-644

Purpose Hardikar syndrome (MIM 612726) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, but with preserved cognition. Only four patients have been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::28c1440c63c0678ccdad82ef556db492
https://doi.org/10.1038/s41436-020-01031-7

Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing

Autor: Piotr Wilk, Sérgio D.J. Pena, Elżbieta Wątor, Meire A. Tostes, Natália D. Linhares, Manfred S. Weiss

Publikováno v: Genetics and Molecular Biology v.44 n.2 2021
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 44, Issue: 2, Article number: e20200393, Published: 19 APR 2021
Genetics and Molecular Biology, Vol 44, Iss 2 (2021)

Prolidase Deficiency (PD) is an autosomal recessive rare disorder caused by loss or reduction of prolidase enzymatic activity due to variants in the PEPD gene. PD clinical features vary among affected individuals: skin ulcerations, recurrent infectio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad7de0873a195f0968aa3efc8bed4139
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000300105

Candidate genes identified by whole-exome sequencing in preeclampsia families: insights into functional annotation and in-silico prediction of deleterious variants

Autor: Marcelo R. Luizon, Valeria C. Sandrim, Izabela M. C. A. Conceição, Natália D. Linhares

Publikováno v: Journal of hypertension. 38(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e1c0269f5f3002fedb94f8ec49f532
https://pubmed.ncbi.nlm.nih.gov/30633125