Zobrazeno 1 - 10
of 217
pro vyhledávání: '"WDR62"'
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundAutosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized primarily by congenital microcephaly and intellectual disability but without extra-central nervous system malformations. This investigation
Externí odkaz:
https://doaj.org/article/f63a3d526d974c7ca4072f172e4be996
Publikováno v:
Disease and Diagnosis, Vol 11, Iss 4, Pp 142-146 (2022)
Background: Autosomal recessive primary microcephaly-2 (MCPH2) is a rare genetic disorder with clinical and genetic heterogeneity. This study aimed to perform high-throughput whole-exome sequencing (WES) to facilitate the diagnosis of the genetic var
Externí odkaz:
https://doaj.org/article/6d177938d08141c5910bd8edf58ed533
Akademický článek
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Autor:
Claudia Dell'Amico, Marilyn M Angulo Salavarria, Yutaka Takeo, Ichiko Saotome, Maria Teresa Dell'Anno, Maura Galimberti, Enrica Pellegrino, Elena Cattaneo, Angeliki Louvi, Marco Onorati
Publikováno v:
eLife, Vol 12 (2023)
WDR62 is a spindle pole-associated scaffold protein with pleiotropic functions. Recessive mutations in WDR62 cause structural brain abnormalities and account for the second most common cause of autosomal recessive primary microcephaly (MCPH), indicat
Externí odkaz:
https://doaj.org/article/1d4841c517794d1fae7c77b292a1a852
Autor:
Lili Hao, Jing Ma, Feizhen Wu, Xiaojing Ma, Maoxiang Qian, Wei Sheng, Tizhen Yan, Ning Tang, Xin Jiang, Bowen Zhang, Deyong Xiao, Yanyan Qian, Jin Zhang, Nan Jiang, Wenhao Zhou, Weicheng Chen, Duan Ma, Guoying Huang
Publikováno v:
Clinical and Translational Medicine, Vol 12, Iss 7, Pp n/a-n/a (2022)
Abstract Background Congenital heart disease (CHD) is the most common birth defect and has high heritability. Although some susceptibility genes have been identified, the genetic basis underlying the majority of CHD cases is still undefined. Methods
Externí odkaz:
https://doaj.org/article/1daa3881ffb34fae8409bd6a1be7e4de
Autor:
D. M. Guseva, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 10, Iss 3, Pp 74-79 (2020)
The article describes the clinical and genetic characteristics of 2 patients from Russia with autosomal recessive primary microcephaly type 2, caused by previously described and newly identified mutations in the WDR62 gene. The data obtained the supp
Externí odkaz:
https://doaj.org/article/760a48b15d544fa1a006b0c0ab45f5b8
Publikováno v:
Acta Epileptologica, Vol 2, Iss 1, Pp 1-6 (2020)
Abstract The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by microcephaly with variable degree of intellectual disability. WDR62 has been reported as the second causative gene of MCPH2. West syndrome is a s
Externí odkaz:
https://doaj.org/article/34af2326ae414d8895880cf5abbec5ab
Autor:
Yiqiang Zhi, Xiaokun Zhou, Jurui Yu, Ling Yuan, Hongsheng Zhang, Dominic C. H. Ng, Zhiheng Xu, Dan Xu
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
The c-Jun N-terminal kinase (JNK) is highly evolutionarily conserved and plays important roles in a broad range of physiological and pathological processes. The WD40-repeat protein 62 (WDR62) is a scaffold protein that recruits different components o
Externí odkaz:
https://doaj.org/article/9fbd1c0680c649d8ae28d1074607a095
Akademický článek
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Akademický článek
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