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Article

Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.

Human genetics - 1 Feb 2022

Topaloglu A Kemal, Simsek Enver, Kocher Matthew A, Mammadova Jamala, Bober Ece, Kotan Leman Damla, Turan Ihsan, Celiloglu Can, Gurbuz Fatih, Yuksel Bilgin, Good Deborah J

Abstract excerpt

Metabolism has a role in determining the time of pubertal development and fertility. Nonetheless, molecular/cellular pathways linking metabolism/body weight to puberty/reproduction are unknown. The KNDy (Kisspeptin/Neurokinin B/Dynorphin) neurons in the arcuate nucleus of the hypothalamus constitute the GnRH (gonadotropin-releasing hormone) pulse generator. We previously created a mouse model with a whole-body...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35066646
DOI: 10.1007/s00439-021-02422-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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