A quantitative model to predict pathogenicity of missense variants in the TP53 gene [0.03%]
定量模型预测TP53基因错义变异致病性的量化模型
Cristina Fortuno,Arcadi Cipponi,Mandy L Ballinger et al.
Cristina Fortuno et al.
Germline pathogenic variants in the TP53 gene cause Li-Fraumeni syndrome, a condition that predisposes individuals to a wide range of cancer types. Identification of individuals carrying a TP53 pathogenic variant is linked to clinical manag...
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies [0.03%]
TGFBI致病和可能致病变异在角膜营养不良中的突变更新
Valeria Kheir,Vianney Cortés-González,Juan C Zenteno et al.
Valeria Kheir et al.
Human transforming growth factor β-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alt...
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders [0.03%]
遗传性视网膜疾病中缺失的基因缺陷在哪里？内含子和同义变异至少可贡献4％的CACNA1F介导的遗传性视网膜疾病
Christina Zeitz,Christelle Michiels,Marion Neuillé et al.
Christina Zeitz et al.
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene ...
Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East [0.03%]
来自中东地区上皮性卵巢癌人群BRCA1和BRCA2基因突变的流行病学、类型及建系效应研究
Abdul K Siraj,Rong Bu,Kaleem Iqbal et al.
Abdul K Siraj et al.
Germline mutations in breast cancer susceptibility gene 1 and 2 have previously been estimated to contribute to 13-18% of all epithelial ovarian cancer (EOC). To characterize the prevalence and effect of BRCA1 and BRCA2 mutations in Middle ...
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations [0.03%]
NBAS致病变异：相关临床及面部表型和基因型-表型关联的界定
Diana Carli,Elisa Giorgio,Francesca Pantaleoni et al.
Diana Carli et al.
The pathogenic variants in the neuroblastoma-amplified sequence (NBAS) are associated with a clinical spectrum involving the hepatic, skeletal, ocular, and immune systems. Here, we report on two unrelated subjects with a complex phenotype s...
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome [0.03%]
Brugada综合征微效基因的遗传学解析及其临床应用价值探索
Oscar Campuzano,Georgia Sarquella-Brugada,Anna Fernandez-Falgueras et al.
Oscar Campuzano et al.
Brugada syndrome (BrS) is an inherited arrhythmogenic disease associated with sudden cardiac death. The main gene is SCN5A. Additional variants in 42 other genes have been reported as deleterious, although these variants have not yet receiv...
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals [0.03%]
SLC35A2-CGD的临床生化表型和功能研究：30例未报道患者的分子遗传学分析
Bobby G Ng,Paulina Sosicka,Satish Agadi et al.
Bobby G Ng et al.
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC...
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity [0.03%]
一种新的基于计算机的方法来研究因子IX错义致病突变及其对乙型血友病的影响
Mariana R Meireles,Marcelo A S Bragatte,Eliane Bandinelli et al.
Mariana R Meireles et al.
Factor IX (encoded by F9) is a protein in the coagulation process, where its lack or deficiency leads to hemophilia B. This condition has been much less studied than hemophilia A, especially in Latin America. We analyzed the structural and ...
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility [0.03%]
又一种可能参与遗传性乳腺癌易感性的DNA解旋酶RECQL5
Alejandra Tavera-Tapia,Miguel de la Hoya,Oriol Calvete et al.
Alejandra Tavera-Tapia et al.
There is still around 50% of the familial breast cancer (BC) cases with an undefined genetic cause, here we have used next-generation sequencing (NGS) technology to identify new BC susceptibility genes. This approach has led to the identifi...
Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome [0.03%]
MLH1外显子6编码序列的Alu元件插入与林奇综合征易感突变的关系研究
Jérôme Solassol,Marion Larrieux,Julie Leclerc et al.
Jérôme Solassol et al.
Lynch syndrome (LS) is the most frequent cause of hereditary colorectal cancer. A subset of patients with a history of LS shows no causal germline pathogenic alteration and are identified as having Lynch-like syndrome (LLS). Alu retrotransp...