Predicting functional variants in enhancer and promoter elements using RegulomeDB [0.03%]
利用Regulomedb预测增强子和启动子元件中的功能变异体
Shengcheng Dong,Alan P Boyle
Shengcheng Dong
Here we present a computational model, Score of Unified Regulatory Features (SURF), that predicts functional variants in enhancer and promoter elements. SURF is trained on data from massively parallel reporter assays and predicts the effect...
Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity [0.03%]
基因特异性特征增强对酸性α-葡萄糖苷酶活性影响的解读
Aashish N Adhikari
Aashish N Adhikari
We present a computational model for predicting mutational impact on enzymatic activity of human acid α-glucosidase (GAA), an enzyme associated with Pompe disease. Using a model that combines features specific to GAA with other general evo...
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease [0.03%]
一大群IIIC型黏多糖贮积症患者的分子特征揭示了该疾病的进化历史
Carla Martins,Paula Frassinetti V de Medeiros,Sandra Leistner-Segal et al.
Carla Martins et al.
Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe, rare autosomal recessive disorder caused by variants in the heparan-α-glucosaminide N-acetyltransferase (HGSNAT) gene which result in lysosomal accumulation of heparan sulfate. We anal...
Multicenter Study
Human mutation. 2019 Aug;40(8):1084-1100. DOI:10.1002/humu.23752 2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans [0.03%]
GDF11和细胞外拮抗物FST突变可能是导致人类孟德尔遗传型唇腭裂的原因
Timothy C Cox,Andrew C Lidral,Jason C McCoy et al.
Timothy C Cox et al.
Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and environmental contributions. In 70% of cases, CL/P presents as an isolated feature and/or deemed nonsyndromic. In the remaining 3...
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease [0.03%]
基于ABCA4测序的经济型分子逆向探针检测Stargardt病深内含子突变
Mubeen Khan,Stéphanie S Cornelis,Muhammad Imran Khan et al.
Mubeen Khan et al.
Purpose: Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation-scanning methods. We aimed to develop a cost-effective sequencing method...
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries [0.03%]
中东、北非和南欧国家BRCA1和BRCA2致病变异的谱系
Yael Laitman,Tara M Friebel,Drakoulis Yannoukakos et al.
Yael Laitman et al.
BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe is not well characterized. The unique history and cultural practices characterizing these regions, often involving consanguinity and inbreeding, plausibly...
Characterization of intellectual disability and autism comorbidity through gene panel sequencing [0.03%]
通过基因检测对智力障碍和自闭症共病的特征分析
Maria C Aspromonte,Mariagrazia Bellini,Alessandra Gasparini et al.
Maria C Aspromonte et al.
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically heterogeneous diseases. Recent whole exome sequencing studies indicated that genes associated with different neurological diseases are shared acr...
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge [0.03%]
评估FXN CAGI5预测挑战中单个氨基酸取代引起的蛋白稳定性变化的影响
Castrense Savojardo,Maria Petrosino,Giulia Babbi et al.
Castrense Savojardo et al.
Frataxin (FXN) is a highly conserved protein found in prokaryotes and eukaryotes that is required for efficient regulation of cellular iron homeostasis. Experimental evidence associates amino acid substitutions of the FXN to Friedreich Atax...
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies [0.03%]
TASP1基因纯合功能丧失变异导致发育迟缓、性格开朗、面部特征独特和先天性异常综合征
Jehan Suleiman,Korbinian M Riedhammer,Timothy Jicinsky et al.
Jehan Suleiman et al.
We report four unrelated children with homozygous loss-of-function variants in TASP1 and an overlapping phenotype comprising developmental delay with hypotonia and microcephaly, feeding difficulties with failure-to-thrive, recurrent respira...
Case Reports
Human mutation. 2019 Nov;40(11):1985-1992. DOI:10.1002/humu.23844 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita [0.03%]
X染色体ZC4H2基因新发突变导致女性发病并出现神经源性多关节挛缩症等多种表型变异症状
Suzanna G M Frints,Friederike Hennig,Roberto Colombo et al.
Suzanna G M Frints et al.
Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. We prese...