【摘 要】
:
Objective:Mutations in PINK1 gene cause recessive form of Parkinsons disease (PD).The PINK1 gene encodes a mitochondrial protein kinase that is processed by mitochondrial proteases resulting in two sm
【机 构】
:
The State Key Laboratory of Medical Genetics, Xiangya Medical School, Central South University
论文部分内容阅读
Objective:Mutations in PINK1 gene cause recessive form of Parkinsons disease (PD).The PINK1 gene encodes a mitochondrial protein kinase that is processed by mitochondrial proteases resulting in two smaller proteolytic fragments.
其他文献
Copy number variations (CNVs) have increasingly been reported to cause, or predispose to, human disease.However, a large fraction of these CNVs have not been accurately characterized at the single-bas
Epidemiological evidence indicates that artificial reproduction technology (ART) may be associated with several epigenetic diseases such as Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome
The mammalian protocadherin (Pcdh) a, b, and g gene clusters provide a striking example of CTCF/cohesin-mediated enhancer/promoter interactions in cell-specific gene expression in the brain.The CTCF/c
肢带型肌营养不良(limb girdle muscular dystrophy,LGMD),是一组遗传模式和临床症状具有高度异质性的常染色体遗传病,主要特征为进行性的盆带肌和肩胛带肌的无力和萎缩.根据遗传方式,可分为LGMD1型(常染色体显性遗传)和LGMD2型(常染色体隐性遗传). LGMD2G,于青少年期起病,主要表现为进行性的四肢近端肌及下肢远端肌的无力和萎缩,肌活检有或无镶边空泡,肌酸激酶
目的:探讨可能与中国汉族人群SCA3/MJD患者发病年龄(AO)变异有关的其他基因.方法:收集已发病的SCA3/MJD患者共802例,应用PCR和毛细管电泳检测10个PolyQ相关基因的CAG重复拷贝数(包括ATXN1,ATXN2,ATXN3,CACNA1A,ATXN7,TBP,ATN1,IT15,KCNN3,RAI1),应用协方差分析、多元线性回归分析其他9个基因的CAG重复拷贝数与SCA3/M
OBJECTIVE: To present chromosomal microarray analysis (CMA) characterization of 22q11.2 microdeletion presenting with increased nuchal translucency (NT) and congenital heart defects.CASE REPORT: We re
Background: IL-27, a member of the IL-12 family, has been involved in maternal tolerance to the fetus and successful pregnancy.Growing evidences indicate that IL-27 plays a crucial role in pregnancy.A
遗传性痉挛性截瘫(hereditary spastic Paraplegias,HSPs)是一种以双下肢进行性截瘫为主要临床特征的神经系统退行性疾病,具有高度的遗传和临床异质性.其主要的遗传方式有常染色体显性遗传(autosomal dominant,AD)、常染色体隐性遗传(autosomal recessive,AR)和X-连锁隐性遗传(x-linked recessive,XR)三种.目前已
Aim: Apolipoprotein E (APOE) is recognized for its importance in lipoprotein metabolism and cardiovascular disease.The goal of this study is to evaluate the association between APOE rs4420638 genotype
Background: Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease.