Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1 [0.03%]
在MTMR2基因中鉴定出一种新的纯合子突变可导致极罕见的遗传性Charcot-Marie-Tooth病4B1型
Nan Du,Xiaolei Wang,Zhaohui Wang et al.
Nan Du et al.
Background: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders involving peripheral nervous system. Charcot-Marie-Tooth disease 4B1 (CMT4B1) is a rare subtype of CMT. CMT4B1 is an axonal demyelinating...
Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues [0.03%]
产科稽留流产组织遗传学病因染色体微阵列分析的应用研究
Zhen Xu,Na Liu,Lu Gao et al.
Zhen Xu et al.
Background: The potential causes of miscarriage are very complex, including genetic, immune, infectious, and endocrine factors. 50%-60% of miscarriages are caused by chromosomal abnormalities. Chromosomal microarray analy...
Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report [0.03%]
光学基因组学映射识别出的一例新生儿四号染色体长臂与六号染色体长臂之间的新型不平衡易位导致喂养困难和低张力：病例报告
Ying Wang,Shaohua Bi,Xiaoqing Shi et al.
Ying Wang et al.
Optical Genome Mapping (OGM) technology has garnered growing interest for the identification of chromosomal structural variations (SVs), particularly complex ones that are implicated in genetic diseases in humans. In this study, we performe...
Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer [0.03%]
BRCA1 3'UTR变异型乳腺癌易感性的功能分析
Diana Carolina Sierra-Díaz,Rodrigo Cabrera,Laura Alejandra Gonzalez-Vasquez et al.
Diana Carolina Sierra-Díaz et al.
Purpose: Breast Cancer (BC) is the main female cancer diagnosed worldwide, and it has been described that few genes, such as BRCA1, have a high penetrance for this type of cancer. In this manuscript, we were interested in...
Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam [0.03%]
越南AR基因突变所致雄激素抵抗综合征的胚胎植入前遗传学诊断
Nguyen Thanh Tung,Trieu Tien Sang,Tran Van Khoa et al.
Nguyen Thanh Tung et al.
Background: Androgen resistance syndrome or androgen insensitivity syndrome (AIS - Androgen Insensitivity Syndrome, OMIM 300068) is an X-linked recessive genetic syndrome causing disorders of sexual development in males. ...
Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population [0.03%]
免疫基因多态性与结核分枝杆菌易感性的关联：非洲人群的分析研究
Wycliff Wodelo,Eddie M Wampande,Alfred Andama et al.
Wycliff Wodelo et al.
Tuberculosis remains a global health concern, with substantial mortality rates worldwide. Genetic factors play a significant role in influencing susceptibility to tuberculosis. This review examines the current progress in studying polymorph...
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations [0.03%]
家族性LCAT缺乏和低HDL-C水平：两种罕见的LCAT错义突变的计算机辅助特征分析
Sebastian Ciro Acosta,Lorena Díaz-Ordóñez,Juan David Gutierrez-Medina et al.
Sebastian Ciro Acosta et al.
Mutations in the lecithin-cholesterol acyltransferase (LCAT) gene, which catalyzes the esterification of cholesterol, result in two types of autosomal recessive disorders: Familial LCAT deficiency (FLD) and Fish Eye Disease (FED). While bot...
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function [0.03%]
因成人遗传失去蔗糖酶-异麦芽糖酶功能而造成的胃肠症状对格陵兰医疗保健的影响
Kristine Andersen,Torben Hansen,Marit Eika Jørgensen et al.
Kristine Andersen et al.
Background: Congenital sucrase isomaltase deficiency (CSID) is in general a very rare disease. However, 2-3% of the Greenlandic population are homozygous (HO) carriers of an Arctic-specific loss-of-function (LoF) variant ...
Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure [0.03%]
对于705个不明原因反复种植失败的夫妇而言，胚胎植入前非整倍体遗传学检测并不能提高累计活产率
Yang Liu,Xiangxin Lan,Juanjuan Lu et al.
Yang Liu et al.
Objective: We evaluate whether next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidy (PGT-A) improves the cumulative pregnancy outcomes of patients with unexplained recurrent implantation f...
Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population [0.03%]
维生素D受体基因多态性与印尼人群的白癜风关联性研究
Retno Hesty Maharani,Hartati Purbo Dharmadji,Reti Hindritiani et al.
Retno Hesty Maharani et al.
Introduction: Vitiligo is an acquired depigmenting skin disorder due to the loss of melanocyte function in the epidermis and hair follicles. The pathogenesis of vitiligo is multifactorial, with genetics being a predisposi...