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| Yi,Zhi; Yang,Wenxu; Ma,Yinan; Qi,Yu; Pan,Hong. |
| ABSTRACT Cyclin-dependent kinase-like 5 (CDKL5) is a protein kinase that is homologous to mitogen-activated protein kinases (MAPKs) and cyclin-dependent kinases (CDKs). Mutations in the CDKL5 gene cause X-linked infantile spasms and phenotypes that overlap with that of Rett syndrome, which is a neurodevelopmental disorder caused primarily by mutations in the methyl CpG binding protein 2 gene (MECP2). Previous studies in transfected cell lines showed that CDKL5 interacts with MeCP2 and DNA (cytosine-5)-methyltransferase 1 (Dnmt1). However, little is known about the relationships of CDKL5 with interacting proteins in primary neuronal cultures. In this study, we investigated the expression patterns of CDKL5, MeCP2 and Dnmt1, and their interaction in cultured... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CDKL5; MeCP2; Dnmt1; Neurodevelopment; Primary neurons. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132016000100421 |
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| Wang,Qi; Xingxing,Lu; Ding,Zhiwei; Qi,Yu; Liu,Yuhe. |
| Abstract We report on the genetic analysis of a Chinese family in which four male patients presented with postlingual progressive hearing loss, associated with distal muscle wasting and unsteady ataxic gait. Using whole exome sequencing, we identified a new pathogenic variant (c.1463C>T, p.Pro488Leu) in the AIFM1 gene, which encodes the apoptosis-inducing factor mitochondrion-associated 1 precursor. AIFM1 is involved in the mitochondrial respiratory chain and cellular caspase-independent apoptosis pathway and has been reported to cause multiple phenotypes including hearing loss. The p.Pro488Leu missense variant segregated with symptoms in the pedigree. It was not found in the dbSNP database, databases of genomes and SNPs in the Chinese population, in 74... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Whole exome sequencing; Apoptosis-inducing factor; AIFM1; X-linked recessive hereditary hearing loss. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400543 |
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