Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.M323I
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PROKR2

NM_144773.4:p.M323I

Associated Papers

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.

Wang X et al.

Human Molecular Genetics, 2023

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.

Martinez-Mayer J et al.

Frontiers in Endocrinology, 2023

Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.

Sugisawa C et al.

Endocrine Journal, 2022

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.

Min L et al.

Neuroendocrinology, 2016

Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.

Sbai O et al.

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

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

Sarfati J et al.

European Journal of Endocrinology, 2013

PROK2/PROKR2 Signaling and Kallmann Syndrome.

Dodé C et al.

Frontiers in Endocrinology, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

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

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.

Abreu AP et al.

Neuroendocrinology, 2010

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.

Balasubramanian R et al.

Neuroendocrinology, 2010

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.

Bianco SD et al.

Nature Reviews. Endocrinology, 2009

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.

Monnier C et al.

Human Molecular Genetics, 2009

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

Dodé C et al.

Plos Genetics, 2006

[On the problem of female infertility: A search for genetic markers].

Eneva NG et al.

Zhurnal Obshchei Biologii, 0

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."