Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.P579T
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GHR

NM_000163.5:p.P579T

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

Growth hormone receptor gene is related to root length and tooth length in human teeth.

Hikita Y et al.

The Angle Orthodontist, 2018

Growth hormone receptor gene variant and three-dimensional mandibular morphology.

Nakawaki T et al.

The Angle Orthodontist, 2017

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

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

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

Cao G et al.

Japanese Journal of Clinical Oncology, 2008

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

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

Wagner K et al.

International Journal of Cancer, 2006

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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."