单倍剂量不足表现为单基因肥胖综合征。 - Suppr

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超能文献

haploinsufficiency presents as monogenic obesity syndrome.

作者信息

Prasun Pankaj, Watkin Katelyn J

机构信息

Department of Pediatrics, Division of Genetics, 5228 American Family Children's Hospital , Madison, WI, USA.

出版信息

J Pediatr Endocrinol Metab. 2025 Jul 10;38(9):973-975. doi: 10.1515/jpem-2025-0020. Print 2025 Sep 25.

DOI:10.1515/jpem-2025-0020

PMID:40629984

Abstract

摘要

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本文引用的文献

The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders.

Hormones (Athens). 2025 Mar;24(1):283-286. doi: 10.1007/s42000-024-00615-1. Epub 2024 Nov 25.

GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

Clin Obes. 2024 Aug;14(4):e12661. doi: 10.1111/cob.12661. Epub 2024 Apr 10.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Am J Med Genet A. 2023 Feb;191(2):445-458. doi: 10.1002/ajmg.a.63041. Epub 2022 Nov 11.

Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.

Mol Genet Genomic Med. 2020 Nov;8(11):e1477. doi: 10.1002/mgg3.1477. Epub 2020 Sep 12.

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.

Growth patterns of patients with 1p36 deletion syndrome.

Congenit Anom (Kyoto). 2014 May;54(2):82-6. doi: 10.1111/cga.12029.

Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.

BMC Med Genet. 2014 Jan 30;15:16. doi: 10.1186/1471-2350-15-16.

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