Purpose: To investigate the molecular pathogenesis of Lebers hereditary optic neuropathy (LHON) in Chinese families.Methods: A cohort of 1218 Han Chinese subjects with LHON and 316 control subjects un
Background: Crigler-Najjar syndrome (CN-I) is a very rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations of UPD-glucuronosyl-transferase 1A1 gene (UGT1A1) on c
Background: Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood.Around 81 ～ 95％ of SMA cases are a result of homozygous deletions of survival
Objective: The protein tyrosine phosphates non-receptor type 22 (PTPN22) were generally accepted as a key factor to maintain immune cellular homeostasis.No association was shown between polymorphisms
Pre-mRNA splicing is a key regulatory step of eukaryotic gene expression.The splicing machinery consists of five RNA-protein complexes named small nuclear ribonucleoprotein particles (snRNPs) (U 1, U2
We genotyped 1022 surgically resected gastric cancer patients to investigate the prognostic effect of XRCC1 Arg194Trp polymorphism (rs1799782) on gastric cancer in the Chinese population.We found that
目的:妊娠期糖尿病(GDM)患者可能存在胎盘环境异常,进而造成一些胎盘结构改变,并影响胎盘发育和功能.因此,本研究旨在确定GDM胎盘中是否存在结构改变.设计:比较GDM及正常妊娠者的足月胎盘的超微结构变化.方法:本研究纳入10例GDM及10例正常对照,经过知情同意后分别取其足月妊娠胎盘,分别应用光学显微镜(light microscopy,LM)和投射电子显微镜(transmission elec
Mutations in PINK1 cause early onset familial Parkinsons disease (PD).PINK1 is accumulated on followed by recruiting parkin to the outer membrane of damaged mitochondria to promote mitophagy.Here, we
Background: Hearing loss is one of the most prevalent human birth defects.Genetic factors contribute to the pathogenesis of deafness.It is estimated that one-third of deafness genes have already been
Background Many genes that have been found to contribute to deafness are currently being studied.Some 80 non-syndromic hereditary deafness genes have been confirmed.Proteins associated with cochlear d