Identification of two CUL7 variants in two Chinese families with 3‐M syndrome by whole‐exome sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23265
Abstract: 3‐M syndrome is a rare autosomal recessive disorder characterized by primordial growth retardation, large head circumference, characteristic facial features, and mild skeletal changes, which is associated with the exclusive variants in three genes, namely CUL7,… read more here.
Keywords: two chinese; chinese families; cul7 variants; variants two ... See more keywords
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1131
Abstract: This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP). read more here.
Keywords: families retinitis; application targeted; targeted panel; retinitis pigmentosa ... See more keywords
Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1537
Abstract: Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating that many novel pathogenic variations… read more here.
Keywords: chinese families; syndromic autosomal; retinitis pigmentosa; non syndromic ... See more keywords
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1735
Abstract: Wilson's disease (WD) is a rare autosomal recessive inherited disorder that is induced by defects of the ATP7B gene and characterized by damage to the liver and nervous system caused by aberrant copper metabolism. The… read more here.
Keywords: families wilson; molecular analysis; analysis chinese; disease ... See more keywords
Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2002
Abstract: The molecular mutations of the L1CAM gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families with a history of hydrocephalus were reported in this study. Two of the… read more here.
Keywords: gene mutation; syndrome three; analysis l1cam; chinese families ... See more keywords
Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia.
Sign Up to like & getrecommendations! Published in 2017 at "Gene"
DOI: 10.1016/j.gene.2017.07.073
Abstract: Aniridia is a rare, congenital ocular disorder caused by the mutations of the paired box gene-6 (PAX6) (OMIM 607108), which encodes a highly conserved transcriptional regulator. In order to investigate the clinical characterizations and genetic… read more here.
Keywords: pax6; two chinese; novel pax6; experimental assessment ... See more keywords
A novel DPP6 variant in Chinese families causes early repolarization syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Experimental cell research"
DOI: 10.1016/j.yexcr.2019.111561
Abstract: Previous studies demonstrated that variants in dipeptidyl aminopeptidase-like protein-6 (DPP6) are involved in idiopathic ventricular fibrillation. However, its role in early repolarization syndrome (ERS) remains largely elusive. The aim of this study is to determine… read more here.
Keywords: chinese families; variant; dpp6; early repolarization ... See more keywords
Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia
Sign Up to like & getrecommendations! Published in 2018 at "Bioscience Reports"
DOI: 10.1042/bsr20171377
Abstract: Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies… read more here.
Keywords: adult; childhood; four novel; gene ... See more keywords
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2017.1380640
Abstract: ABSTRACT Background: Limb-girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive hereditary disorder caused by mutations in the fukutin-related protein (FKRP) gene. Although the features of the disorder in European patients have been summarized,… read more here.
Keywords: limb girdle; asian patients; dystrophy type; muscular dystrophy ... See more keywords
Residual nitrite and biogenic amines of traditional northeast sauerkraut in China
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Food Properties"
DOI: 10.1080/10942912.2016.1239632
Abstract: ABSTRACT The safety of northeast sauerkraut (NS) has always been a concern in China. In the present study, the nitrite and biogenic amine (BA) contents in 378 NS, collected or purchased from Chinese families and… read more here.
Keywords: local supermarkets; morning markets; northeast sauerkraut; nitrite biogenic ... See more keywords
Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0142
Abstract: Purpose: To explore the genetic defects in two Chinese families with X-linked Norrie disease (ND). Methods: We analyzed two Chinese families with ND at molecular level through clinical exome sequencing and the variations were identified… read more here.
Keywords: two chinese; clinical exome; ndp gene; chinese families ... See more keywords