Varaico: Literature-Extracted Genetic Variants

Gene:GHRHR
Variant:p.A57T
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GHRHR

NM_000823.4:p.A57T

Associated Papers

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Ahmad S et al.

Frontiers in Endocrinology, 2023

Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.

Birla S et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2016

Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency.

Arman A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2014

Growth hormone deficiency: an update.

Audí L et al.

Minerva Endocrinologica, 2013

Variation in inflammatory cytokine/growth-factor genes and mammographic density in premenopausal women aged 50-55.

Ozhand A et al.

Plos One, 2013

Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.

Camats N et al.

Clinical Endocrinology, 2012

Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors.

Wong ML et al.

Molecular Psychiatry, 2012

Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.

Inoue H et al.

Clinical Endocrinology, 2011

A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.

Godi M et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study.

Dennison EM et al.

The Journal of Rheumatology, 2009

Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone.

Mulhall C et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

Osorio MG et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

A polymorphism in the growth hormone-releasing hormone receptor gene: clinical significance?

Adams EF et al.

Regulatory Peptides, 2002

Growth hormone releasing hormone receptor.

Gaylinn BD

Receptors & Channels, 2002

Absence of constitutively activating mutations in the GHRH receptor in GH-producing pituitary tumors.

Lee EJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

Absence of mutations in the growth hormone (GH)-releasing hormone receptor gene in GH-secreting pituitary adenomas.

Salvatori R et al.

Clinical Endocrinology, 2001

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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."