Varaico: Literature-Extracted Genetic Variants

Gene:TACR3
Variant:p.Y256H
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TACR3

NM_001059.3:p.Y256H

Associated Papers

Functional Rescue of Inactivating Mutations of the Human Neurokinin 3 Receptor Using Pharmacological Chaperones.

Anderson RC et al.

International Journal of Molecular Sciences, 2022

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.

Noel SD et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

Sidhoum VF et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.

Marino M et al.

International Journal of Endocrinology, 2014

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.

Silveira LG et al.

Brain Research, 2010

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.

Gianetti E et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Genetic variants of G-protein coupled receptors associated with pubertal disorders.

Suzuki E et al.

Reproductive Medicine and Biology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."