Aiko Sasaki,Takahiro Yamada,Haruhiko Sago et al.
Aiko Sasaki et al.
Prenatal genetic testing in Japan has undergone major changes over the past 2 decades. Maternal serum screening (MSS), amniocentesis (AC), and chorionic villus sampling (CVS) have been the principal tools used to identify fetal chromosomal ...
Akira Togayachi,Kiyohiko Angata,Shoko Nishihara
Akira Togayachi
Glycosylation is a ubiquitous and essential post-translational modification in biological systems. Most cell-surface and secreted proteins are glycosylated: the glycans contribute to the structural integrity of proteins and cell membranes, ...
Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families [0.03%]
CASQ1 p.Asp244His导致的血管病理性证据来自两个无关的中国家庭
Xingyu Xia,Milla Laarne,Tonglin Pan et al.
Xingyu Xia et al.
Calsequestrin-1 (CASQ1)-related myopathy is a rare skeletal muscle disorder caused by mutations in CASQ1 gene, which encodes a major calcium-buffering protein of the sarcoplasmic reticulum (SR). It is characterized histopathologically by tu...
Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene [0.03%]
ALAGILLE综合征患儿的临床及遗传特征分析：JAG1基因57种新变异体的鉴定
Elena A Gusarova,Anna V Degtyareva,Alla E Lavrova et al.
Elena A Gusarova et al.
Alagille syndrome (ALGS) is an inherited multisystem disorder with a broad phenotypic spectrum and no apparent genotype-phenotype correlation. This study aimed to present the clinical and genetic characteristics of 115 patients diagnosed wi...
Childhood-onset ataxia with dystonia: expanding the spectrum of VWA3B-related disorders [0.03%]
儿童期起病的共济失调性肌张力不全：VWA3B相关障碍的临床表型拓展
Naik Adarsha,Pradip Paria,Amita Moirangthem
Naik Adarsha
Hereditary cerebellar ataxias are a group of rare genetic disorders that affect coordination, balance, and speech. Childhood-onset forms can be especially severe and difficult to diagnose. The VWA3B gene, though not fully understood, plays ...
Modern descendants of Kyordyughen warrior (Yakutia, 4200 years before present) in populations of Far East [0.03%]
当代Kyordyugene武士（雅库特，4200年前）在远东人群中的后裔分布状况
Dmitry Adamov,Maxat Zhabagin,Elena Balanovska
Dmitry Adamov
A search for the modern descendants of the Neolithic population has been conducted using two datasets of Y-chromosome polymorphisms: literature data on the ancient population of Northeast Eurasia and our own data on 256 whole genomes of 11 ...
Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown [0.03%]
通过tgfbr2b敲低建立斑马鱼Loeys-Dietz综合征模型
Rie Chida,Genri Kawahara,Mami Nakayashiki et al.
Rie Chida et al.
Loeys-Dietz syndrome (LDS), an autosomal dominant connective tissue disorder, was initially considered "atypical" Marfan syndrome (MFS). MFS is caused by mutations in FBN1 encoding fibrillin 1, which binds to transforming growth factor β (...
Toshihiro Tanaka
Toshihiro Tanaka
Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant - a case-based review and variant analysis [0.03%]
PERCC1新双等位基因变异导致的先天性腹泻/肠病-基于病例的回顾与变异分析
Aaqib Zaffar Banday,Ishaq Malik,Anit Kaur et al.
Aaqib Zaffar Banday et al.
Congenital diarrhea/enteropathy due to inherited biallelic defects in the newly discovered gene PERCC1 has been reported in only a few patients thus far. We utilized whole-exome sequencing (WES) to identify a novel PERCC1 stop-gain variant ...
A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype [0.03%]
FRA10AC1新同合子剪接变异：进一步确定表型特征
Mohamed S Abdel-Hamid,Ghada M H Abdel-Salam
Mohamed S Abdel-Hamid
Biallelic variants in FRA10AC1, encoding a component of the spliceosomal C complex that is crucial for functional mRNA processing, have been recently associated with a neurodevelopmental disorder characterized by developmental delay, variab...