Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.C440F
Back to variants list

GHR

NM_000163.5:p.C440F

Associated Papers

Association of growth hormone receptor gene variant with longevity in men is due to amelioration of increased mortality risk from hypertension.

Donlon TA et al.

Aging, 2021

Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.

Li R et al.

Frontiers in Endocrinology, 2021

33912130 (PubMed )
Supplement: Table_1.docx

Association study between growth hormone receptor (GHR ) gene polymorphisms and obesity in Korean population.

Yang SA

Journal of Exercise Rehabilitation, 2016

Association of a single-nucleotide polymorphism (rs6180) in GHR gene with plural tissue weight.

Fujihara J et al.

Journal of Genetics, 2016

Genetic analysis of short children with apparent growth hormone insensitivity.

Wit JM et al.

Hormone Research in Paediatrics, 2012

The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.

Derr MA et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A et al.

Endocrine Reviews, 2011

A novel Y332C missense mutation in the intracellular domain of the human growth hormone receptor does not alter STAT5b signaling: redundancy of GHR intracellular tyrosines involved in STAT5b signaling.

Derr MA et al.

Hormone Research in Paediatrics, 2011

Associations of the growth hormone receptor (GHR) gene polymorphisms with adiposity and IGF-I activity in adolescents.

Mong JL et al.

Clinical Endocrinology, 2010

GHR and VDR genes do not contribute to the growth hormone (GH) response in GH deficient and Turner syndrome patients.

Alvarez-Nava F et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010

Lung cancer risk associated with Thr495Pro polymorphism of GHR in Chinese population.

Cao G et al.

Japanese Journal of Clinical Oncology, 2008

Growth Hormone (GH) receptor C.1319 G>T polymorphism, but not exon 3 retention or deletion is associated with better first-year growth response to GH therapy in patients with GH deficiency.

Wan L et al.

Pediatric Research, 2007

The Leu544Ile polymorphism of the growth hormone receptor gene affects the serum cholesterol levels during GH treatment in children with GH deficiency.

Ihara K et al.

Clinical Endocrinology, 2007

Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.

Kokubo Y et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006

Polymorphisms in the growth hormone receptor: a case-control study in breast cancer.

Wagner K et al.

International Journal of Cancer, 2006

[Single nucleotide polymorphisms of growth hormone receptor gene in Chinese Han ethnic population].

Zhou J et al.

Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."