与显性遗传的人类肥胖相关的黑皮质素4受体（MC4R）移码突变。 - Suppr

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A frameshift mutation in MC4R associated with dominantly inherited human obesity.

作者信息

Yeo G S, Farooqi I S, Aminian S, Halsall D J, Stanhope R G, O'Rahilly S

出版信息

Nat Genet. 1998 Oct;20(2):111-2. doi: 10.1038/2404.

DOI:10.1038/2404

PMID:9771698

Abstract

摘要

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A frameshift mutation in MC4R associated with dominantly inherited human obesity.

作者信息

Yeo G S, Farooqi I S, Aminian S, Halsall D J, Stanhope R G, O'Rahilly S

出版信息

Nat Genet. 1998 Oct;20(2):111-2. doi: 10.1038/2404.

DOI:10.1038/2404

PMID:9771698

Abstract

摘要

相似文献

A frameshift mutation in MC4R associated with dominantly inherited human obesity.

Nat Genet. 1998 Oct;20(2):111-2. doi: 10.1038/2404.

A frameshift mutation in human MC4R is associated with a dominant form of obesity.

Nat Genet. 1998 Oct;20(2):113-4. doi: 10.1038/2407.

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

J Clin Invest. 2000 Jul;106(2):271-9. doi: 10.1172/JCI9397.

Response of melanocortin-4 receptor-deficient mice to anorectic and orexigenic peptides.

Nat Genet. 1999 Jan;21(1):119-22. doi: 10.1038/5070.

A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population.

Int J Obes Relat Metab Disord. 2003 Mar;27(3):385-8. doi: 10.1038/sj.ijo.0802244.

Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.

J Clin Endocrinol Metab. 1999 Apr;84(4):1483-6. doi: 10.1210/jcem.84.4.5728.

Hyperphagia, not hypometabolism, causes early onset obesity in melanocortin-4 receptor knockout mice.

Physiol Genomics. 2003 Mar 18;13(1):47-56. doi: 10.1152/physiolgenomics.00129.2002.

Congenital leptin deficiency is associated with severe early-onset obesity in humans.

Nature. 1997 Jun 26;387(6636):903-8. doi: 10.1038/43185.

Defective melanocortin 4 receptors in hyperphagia and morbid obesity.

N Engl J Med. 2003 Mar 20;348(12):1160-3. doi: 10.1056/NEJMe030013.

Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity.

J Pediatr. 2007 Jun;150(6):613-7, 617.e1. doi: 10.1016/j.jpeds.2007.01.041.

引用本文的文献

Validation of a genome-wide polygenic score for body mass index in South Asians.

Front Genet. 2025 Sep 4;16:1603542. doi: 10.3389/fgene.2025.1603542. eCollection 2025.

Role of hypothalamus function in metabolic diseases and its potential mechanisms.

PeerJ. 2025 May 29;13:e19532. doi: 10.7717/peerj.19532. eCollection 2025.

Brain-Body Communication in Glucose Metabolism.

Adv Exp Med Biol. 2025;1477:63-81. doi: 10.1007/978-3-031-89525-8_3.

as a Genetic Model System to Study Organismal Energy Metabolism.

Biomolecules. 2025 May 1;15(5):652. doi: 10.3390/biom15050652.

A Dominant Mutation in Gs-Protein Increases Hair Pigmentation.

Pigment Cell Melanoma Res. 2025 May;38(3):e70025. doi: 10.1111/pcmr.70025.

Precision nutrition for cardiometabolic diseases.

Nat Med. 2025 May;31(5):1444-1453. doi: 10.1038/s41591-025-03669-9. Epub 2025 Apr 30.

Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.

Obesity (Silver Spring). 2025 May;33(5):986-995. doi: 10.1002/oby.24263. Epub 2025 Apr 15.

Functionally characterizing obesity-susceptibility genes using CRISPR/Cas9, in vivo imaging and deep learning.

Sci Rep. 2025 Feb 13;15(1):5408. doi: 10.1038/s41598-025-89823-2.

A comprehensive spatio-cellular map of the human hypothalamus.

Nature. 2025 Mar;639(8055):708-716. doi: 10.1038/s41586-024-08504-8. Epub 2025 Feb 5.

regulates melanocortin 4 receptor transcription and energy homeostasis.

Sci Transl Med. 2025 Jan 15;17(781):eadr6459. doi: 10.1126/scitranslmed.adr6459.