一种与性腺功能减退和病态肥胖相关的瘦素错义突变。 - Suppr

Suppr

超能文献

A leptin missense mutation associated with hypogonadism and morbid obesity.

作者信息

Strobel A, Issad T, Camoin L, Ozata M, Strosberg A D

出版信息

Nat Genet. 1998 Mar;18(3):213-5. doi: 10.1038/ng0398-213.

DOI:10.1038/ng0398-213

PMID:9500540

Abstract

摘要

相似文献

A leptin missense mutation associated with hypogonadism and morbid obesity.

Nat Genet. 1998 Mar;18(3):213-5. doi: 10.1038/ng0398-213.

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.

[From gene to disease; leptin and obesity].

Ned Tijdschr Geneeskd. 2001 Mar 24;145(12):572-4.

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

Exp Clin Endocrinol Diabetes. 2007 Jan;115(1):7-12. doi: 10.1055/s-2007-949150.

Reproductive biology. A powerful first KiSS-1.

Science. 2005 Jul 22;309(5734):551-2. doi: 10.1126/science.309.5734.551.

[The genetics of hypogonadotropic hypogonadism in the male].

MMW Fortschr Med. 2005 Nov 10;147(45):32-4, 36.

Pregnancy in a woman with a leptin-receptor mutation.

N Engl J Med. 2012 Mar 15;366(11):1064-5. doi: 10.1056/NEJMc1200116.

Sporadic mutations in melanocortin receptor 3 in morbid obese individuals.

Eur J Hum Genet. 2008 May;16(5):581-6. doi: 10.1038/sj.ejhg.5202005. Epub 2008 Jan 30.

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

Mol Genet Metab. 2009 Aug;97(4):305-8. doi: 10.1016/j.ymgme.2009.04.002. Epub 2009 Apr 9.

[Hypogonadism due to LH deficiency].

Bull Mem Acad R Med Belg. 2007;162(5-6):291-7; discussion 298.

引用本文的文献

A real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.

Front Endocrinol (Lausanne). 2025 May 21;16:1582715. doi: 10.3389/fendo.2025.1582715. eCollection 2025.

Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring.

Nat Aging. 2024 Dec;4(12):1745-1759. doi: 10.1038/s43587-024-00733-w. Epub 2024 Dec 13.

Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.

Sci Prog. 2024 Oct-Dec;107(4):368504241297197. doi: 10.1177/00368504241297197.

Novel perspectives on leptin in osteoarthritis: Focus on aging.

Genes Dis. 2023 Nov 4;11(6):101159. doi: 10.1016/j.gendis.2023.101159. eCollection 2024 Nov.

Novel compound heterozygous mutations in responsible for obesity in a Chinese family.

Mol Genet Metab Rep. 2024 Jun 29;40:101114. doi: 10.1016/j.ymgmr.2024.101114. eCollection 2024 Sep.

A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies.

J Biol Chem. 2024 Aug;300(8):107562. doi: 10.1016/j.jbc.2024.107562. Epub 2024 Jul 19.

Signatures of metabolic diseases on spermatogenesis and testicular metabolism.

Nat Rev Urol. 2024 Aug;21(8):477-494. doi: 10.1038/s41585-024-00866-y. Epub 2024 Mar 25.

Classification of Congenital Leptin Deficiency.

J Clin Endocrinol Metab. 2024 Sep 16;109(10):2602-2616. doi: 10.1210/clinem/dgae149.

Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth.

Genes (Basel). 2024 Jan 22;15(1):139. doi: 10.3390/genes15010139.

Metabolic hormones are integral regulators of female reproductive health and function.

Biosci Rep. 2024 Jan 31;44(1). doi: 10.1042/BSR20231916.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

A leptin missense mutation associated with hypogonadism and morbid obesity.

Nat Genet. 1998 Mar;18(3):213-5. doi: 10.1038/ng0398-213.

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.

[From gene to disease; leptin and obesity].

Ned Tijdschr Geneeskd. 2001 Mar 24;145(12):572-4.

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

Exp Clin Endocrinol Diabetes. 2007 Jan;115(1):7-12. doi: 10.1055/s-2007-949150.

Reproductive biology. A powerful first KiSS-1.

Science. 2005 Jul 22;309(5734):551-2. doi: 10.1126/science.309.5734.551.

[The genetics of hypogonadotropic hypogonadism in the male].

MMW Fortschr Med. 2005 Nov 10;147(45):32-4, 36.

Pregnancy in a woman with a leptin-receptor mutation.

N Engl J Med. 2012 Mar 15;366(11):1064-5. doi: 10.1056/NEJMc1200116.

Sporadic mutations in melanocortin receptor 3 in morbid obese individuals.

Eur J Hum Genet. 2008 May;16(5):581-6. doi: 10.1038/sj.ejhg.5202005. Epub 2008 Jan 30.

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

Mol Genet Metab. 2009 Aug;97(4):305-8. doi: 10.1016/j.ymgme.2009.04.002. Epub 2009 Apr 9.

[Hypogonadism due to LH deficiency].

Bull Mem Acad R Med Belg. 2007;162(5-6):291-7; discussion 298.

引用本文的文献

A real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.

Front Endocrinol (Lausanne). 2025 May 21;16:1582715. doi: 10.3389/fendo.2025.1582715. eCollection 2025.

Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring.

Nat Aging. 2024 Dec;4(12):1745-1759. doi: 10.1038/s43587-024-00733-w. Epub 2024 Dec 13.

Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.

Sci Prog. 2024 Oct-Dec;107(4):368504241297197. doi: 10.1177/00368504241297197.

Novel perspectives on leptin in osteoarthritis: Focus on aging.

Genes Dis. 2023 Nov 4;11(6):101159. doi: 10.1016/j.gendis.2023.101159. eCollection 2024 Nov.

Novel compound heterozygous mutations in responsible for obesity in a Chinese family.

Mol Genet Metab Rep. 2024 Jun 29;40:101114. doi: 10.1016/j.ymgmr.2024.101114. eCollection 2024 Sep.

A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies.

J Biol Chem. 2024 Aug;300(8):107562. doi: 10.1016/j.jbc.2024.107562. Epub 2024 Jul 19.

Signatures of metabolic diseases on spermatogenesis and testicular metabolism.

Nat Rev Urol. 2024 Aug;21(8):477-494. doi: 10.1038/s41585-024-00866-y. Epub 2024 Mar 25.

Classification of Congenital Leptin Deficiency.

J Clin Endocrinol Metab. 2024 Sep 16;109(10):2602-2616. doi: 10.1210/clinem/dgae149.

Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth.

Genes (Basel). 2024 Jan 22;15(1):139. doi: 10.3390/genes15010139.

Metabolic hormones are integral regulators of female reproductive health and function.

Biosci Rep. 2024 Jan 31;44(1). doi: 10.1042/BSR20231916.