Results 161 to 170 of about 2,519,227 (189)

MicroRNA regulation of the GNE gene

Neuromuscular Disorders, 2016
I. Moshkovitz, M. Becker-Cohen, I. Eisenberg, S. Mitrani-Rosenbaum   +3 more
openaire   +1 more source

[GNE gene-related thrombocytopenia: a case report and literature review].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
To study the clinical characteristics and treatment outcomes of GNE gene-related thrombocytopenia.A retrospective analysis was conducted on the data of one child with GNE gene-related thrombocytopenia, along with a review of cases reported in the literature, focusing on clinical phenotypes and treatment characteristics.Among 31 patients, the onset was ...
Shuo, Lin, Xiao-Juan, Chen
openaire   +1 more source

[GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University, 2013
To investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV).Five patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced.
Xiang-hui, Lu, Chuan-qiang, Pu, Qiang, Shi, Wen-jing, Luo, Ke, Li   +4 more
openaire   +1 more source

[Sequence of Escherichia coli O138 O-antigen gene cluster and gne identification by bioinformatics].

Wei sheng wu xue bao = Acta microbiologica Sinica, 2009
E. coli O138 is one of the enterotoxigenic Escherichia coli, causing the postweaning diarrhea and edema disease of weaned pigs. The O-antigen gene cluster of E. coli O138 was sequenced and found to contain the genes rmlB-DAC and gne, gna for the biosynthesis of nucleotide sugars dTDP-rhamnose and UDP-GalNAcA, respectively, genes encoding for O unit ...
Qing-Ke, Kong, Jian-Song, Cheng, Guang, Zhao, Lei, Wang, Hong-Jie, Guo   +4 more
openaire   +1 more source

Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics

Molecular Neurobiology, 2021
Ranjana Arya, Priyanka Chaudhary, Fluencephila Mashangva   +2 more
exaly  

Clinical characteristics of spectrum of GNE gene mutations in Reunion-Island cohort.

Neuromuscular Disorders, 2017
Grigorashvili-Coin, I., Campech, M., Darcel, F., Jacquemont, M., Krahn, Martin, Cerino, Mathieu, Choumert, A.   +6 more
openaire   +2 more sources

Erratum to: Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

Journal of human genetics
In this article, one of the novel mutations, A591T, was incorrectly given as A591P. In all occurrences throughout the article, the correct nomenclature of the novel mutation should be A591T.
Byoung Joon, Kim, Chang-Seok, Ki, Jong-Won, Kim, Duk Hyun, Sung, Young-Chul, Choi, Seung Hyun, Kim   +5 more
openaire   +1 more source

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Frontiers in Neurology, 2022
Tahseen Mozaffar, Jeffrey Mullen
exaly  

Effects of a homozygous missense mutation in the GNE gene p.V543M on cell phenotype and its mechanisms.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
Uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is a progressive neurodegenerative disease associated with homozygous or compound heterozygous missense mutations in the GNE gene. This study aims to explore the impact of the homozygous p.V543M mutation in on cell phenotype and to gain preliminary insights into
Ruolan, Wu, Huilong, Li, Pingyun, Wu, Qi, Yang, Xueting, Wan, Yuan, Wu   +5 more
openaire   +1 more source

Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery

Neuromuscular Disorders, 2012
Stella Mitrani-Rosenbaum, Zohar Argov, Avi Harazi   +2 more
exaly