tRNA methyltransferase 10 homologue A (


Journal

BMJ open diabetes research & care
ISSN: 2052-4897
Titre abrégé: BMJ Open Diabetes Res Care
Pays: England
ID NLM: 101641391

Informations de publication

Date de publication:
10 2020
Historique:
received: 09 06 2020
revised: 25 07 2020
accepted: 27 07 2020
entrez: 17 10 2020
pubmed: 18 10 2020
medline: 22 6 2021
Statut: ppublish

Résumé

Loss-of-function mutations in tRNA methyltransferase 10 homologue A ( We report a Chinese young patient who was diagnosed with diabetes mellitus as a result of a A homozygous mutation c.496-1G>A in Our case is the first report in the Asian population. It adds to current knowledge of

Identifiants

pubmed: 33067246
pii: 8/1/e001601
doi: 10.1136/bmjdrc-2020-001601
pmc: PMC7569974
pii:
doi:

Substances chimiques

Methyltransferases EC 2.1.1.-
TRMT10A protein, human EC 2.1.1.-
tRNA Methyltransferases EC 2.1.1.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Références

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Nucleic Acids Res. 2018 Nov 2;46(19):10302-10318
pubmed: 30247717
PLoS Genet. 2013 Oct;9(10):e1003888
pubmed: 24204302
RNA. 2003 May;9(5):574-85
pubmed: 12702816
J Med Genet. 2014 Sep;51(9):581-6
pubmed: 25053765
Arch Dis Child. 2013 Sep;98(9):707-13
pubmed: 23814088
Am J Med Genet A. 2015 Dec;167A(12):3167-73
pubmed: 26297882
Diabet Med. 2016 Sep;33(9):e21-5
pubmed: 26526202

Auteurs

Hu Lin (H)

Department of Endocrinology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang Province, China.

Xuelian Zhou (X)

Department of Endocrinology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang Province, China.

Xuefeng Chen (X)

Department of Endocrinology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang Province, China.

Ke Huang (K)

Department of Endocrinology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang Province, China.

Wei Wu (W)

Department of Endocrinology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang Province, China.

Junfen Fu (J)

Department of Endocrinology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang Province, China.

Yangxi Li (Y)

The Endocrine Genetics Laboratory, Department of Pediatrics, Research Institute of McGill University Health Centre, Montreal, Quebec, Canada.

Constantin Polychronakos (C)

The Endocrine Genetics Laboratory, Department of Pediatrics, Research Institute of McGill University Health Centre, Montreal, Quebec, Canada.

Guan-Ping Dong (GP)

Department of Endocrinology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang Province, China dgpxlx@zju.edu.cn.

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Classifications MeSH