Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis [0.03%]
USP45基因的双等位基因突变与莱伯先天性黑蒙相关
Zhen Yi,Jiamin Ouyang,Wenmin Sun et al.
Zhen Yi et al.
Background: Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophies. In approximately 56% of Chinese probands, genetic defects can be detected in known LCA-causing genes. In ...
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome [0.03%]
新的巨脑回症候群患者的MYCN新生功能增强型突变
Kohji Kato,Fuyuki Miya,Nanako Hamada et al.
Kohji Kato et al.
Background: In this study, we aimed to identify the gene abnormality responsible for pathogenicity in an individual with an undiagnosed neurodevelopmental disorder with megalencephaly, ventriculomegaly, hypoplastic corpus...
Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning [0.03%]
宫颈上皮内瘤变和宫颈癌的全面基因组变异分析鉴定出宫颈癌早期预警的潜在靶标
Jian Huang,Zhaoyang Qian,Yuhua Gong et al.
Jian Huang et al.
Background: To better understand the pathogenesis of cervical cancer (CC), we systematically analysed the genomic variation and human papillomavirus (HPV) integration profiles of cervical intraepithelial neoplasia (CIN) a...
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation [0.03%]
NF1基因突变类型决定NF1患者的乳腺癌风险：新的基因型表型相关性
Ian M Frayling,Victor-Felix Mautner,Rick van Minkelen et al.
Ian M Frayling et al.
Background: Neurofibromatosis type 1 (NF1) predisposes to breast cancer (BC), but no genotype-phenotype correlations have been described. Methods: ...
CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy [0.03%]
CAP2突变导致肌动蛋白动力学受损并继发房性心动过速和扩张型心肌病
Liam Aspit,Aviva Levitas,Sharon Etzion et al.
Liam Aspit et al.
Background: Dilated cardiomyopathy (DCM) is a primary myocardial disease leading to contractile dysfunction, progressive heart failure and excessive risk of sudden cardiac death. Around half of DCM cases are idiopathic, a...
T cell dysfunction in chronic hepatitis B infection and liver cancer: evidence from transcriptome analysis [0.03%]
慢性乙型肝炎感染和肝癌患者T细胞功能障碍的转录组学研究证据
Yu-Gang Wang,Dong-Hui Zheng,Min Shi et al.
Yu-Gang Wang et al.
Background: T cell dysfunction occurs in many diseases, especially in chronic virus infection and cancers. However, up to now, little is known on the distinctions in T cell exhaustion between cancer and chronic virus infe...
Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data [0.03%]
利用人类单细胞基因组测序数据评估减数分裂染色体重组和分离事件
Jun-Yu Ma,Li-Ying Yan,Zhen-Bo Wang et al.
Jun-Yu Ma et al.
Background: The human oocyte transmits one set of haploid genome into female pronucleus (FPN) while discards the remaining genome into the first polar body (PB1) and the second polar body (PB2). The FPN genome carries an ...
Margaret P Adam,Siddharth Banka,Hans T Bjornsson et al.
Margaret P Adam et al.
Background: Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door to targeted therapies. ...
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy [0.03%]
ELOVL1新发突变导致鱼鳞病、黑棘皮病、脱髓鞘、双下肢痉挛性瘫痪、高频耳聋和视神经萎缩
Noomi Mueller,Takayuki Sassa,Susanne Morales-Gonzalez et al.
Noomi Mueller et al.
Background: Very long-chain fatty acids (VLCFAs) are essential for functioning of biological membranes. ELOVL fatty acid elongase 1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs. We studied two pati...
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome) [0.03%]
MAB21L1功能丧失导致一种具有特殊的小脑、眼、颅面和生殖道特征的综合征性神经发育障碍（COFG 综合征）
Abolfazl Rad,Umut Altunoglu,Rebecca Miller et al.
Abolfazl Rad et al.
Background: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; howe...