Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population [0.03%]
汉族人群已知区域内编码及UTR变异与湿性年龄相关黄斑变性疾病关联研究
Lulin Huang,Xiongze Zhang,Pancy O S Tam et al.
Lulin Huang et al.
Age-related macular degeneration (AMD) is the leading cause worldwide of severe visual impairment among people older than 55 years of age. This study aimed to investigate the genetic association between coding and untranslated region (UTR) ...
Kazuhiro Iwama,Hitoshi Osaka,Takahiro Ikeda et al.
Kazuhiro Iwama et al.
The mammalian Na+/H+ exchanger isoform one (NHE1), encoded by Solute Carrier Family 9, member 1 (SLC9A1), consists of 12 membrane domains and a cytosolic C-terminal domain. NHE1 plays an important role in maintaining intracellular pH homeos...
A genealogical assessment of familial clustering of anorectal malformations [0.03%]
家族性肛门直肠畸形聚集的系谱学评估
Craig C Teerlink,Ryan Bernhisel,Lisa A Cannon-Albright et al.
Craig C Teerlink et al.
Familial recurrence of anorectal malformations (ARMs) has been reported in single institution case series and in two population-based studies. Here, we investigate the familial aggregation of ARMs using well-established, unbiased methods in...
Genotype-phenotype correlation in Becker muscular dystrophy in Chinese patients [0.03%]
中国贝克型肌营养不良症患者的基因型与表型相关性研究
Ruiyi Yuan,Junfei Yi,Zhiying Xie et al.
Ruiyi Yuan et al.
Large deletions and duplications are the most frequent causative mutations in Becker muscular dystrophy (BMD), but genetic profile varied greatly among reports. We performed a comprehensive molecular investigation in 95 Chinese BMD patients...
Danielle K Bourque,David A Dyment,Ian MacLusky et al.
Danielle K Bourque et al.
Biallelic mutations in NALCN are responsible for infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1). Common features of this condition include severe neonatal-onset hypotonia and profound global developmen...
PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome [0.03%]
基底细胞痣综合征发病机制中PTCH1的主要转录本为1B型
Robbert-Jan C A M Gielen,Marieke G H C Reinders,Hannele K Koillinen et al.
Robbert-Jan C A M Gielen et al.
Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among t...
Robust imaging and gene delivery to study human lymphoblastoid cell lines [0.03%]
用于研究人类淋巴母细胞系的稳健成像和基因传递
Lachlan A Jolly,Ying Sun,Renée Carroll et al.
Lachlan A Jolly et al.
Lymphoblastoid cell lines (LCLs) have been by far the most prevalent cell type used to study the genetics underlying normal and disease-relevant human phenotypic variation, across personal to epidemiological scales. In contrast, only few st...
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy [0.03%]
PARS2相关性婴儿期起病脑病的基因型和表型谱系分析
Xiaomeng Yin,Beisha Tang,Xiao Mao et al.
Xiaomeng Yin et al.
Mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are a family of enzymes that play critical roles in protein biosynthesis. Mutations in mt-aaRSs are associated with various diseases. As a member of the mt-aaRS family, PARS2 encoding prol...
Clinical Trial
Journal of human genetics. 2018 Sep;63(9):971-980. DOI:10.1038/s10038-018-0478-z 2018
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment [0.03%]
ALDH18A1的新突变与复杂的遗传性痉挛性截瘫、小脑共济失调和认知障碍相关
Kishin Koh,Hiroyuki Ishiura,Minako Beppu et al.
Kishin Koh et al.
Hereditary spastic paraplegias (HSPs) are characterized by various inherited disorders in which weakness and spasticity of the lower extremities are the predominant symptoms. Recently, HSP caused by ALDH18A1 mutations has been reported as S...
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome [0.03%]
STAMBP蛋白SH3结合基序区同义密码子变异导致微小脑回-毛细血管畸形综合征
Ikumi Hori,Fuyuki Miya,Yutaka Negishi et al.
Ikumi Hori et al.
Microcephaly-capillary malformation syndrome is a congenital and neurodevelopmental disorder caused by biallelic mutations in the STAMBP gene. Here we identify the novel homozygous mutation located in the SH3 binding motif of STAMBP (NM_006...