Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.I544L
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GHR

NM_000163.5:p.I544L

Associated Papers

Genetic analysis of a Chinese family with non-syndromic tooth agenesis may reveal a potential multi-locus etiology.

Wu Y et al.

Gene, 2026

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.

Bitarafan F et al.

Bmc Endocrine Disorders, 2023

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

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

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 Mutations Related to Individual Dwarfism.

Lin S et al.

International Journal of Molecular Sciences, 2018

Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.

Castilla-Cortázar I et al.

American Journal of Medical Genetics. Part A, 2017

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

Nakawaki T et al.

The Angle Orthodontist, 2017

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

Fujihara J et al.

Journal of Genetics, 2016

Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree.

Klammt J et al.

Clinical Endocrinology, 2015

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

Growth hormone receptor variants and response to pegvisomant in monotherapy or in combination with somatostatin analogs in acromegalic patients: a multicenter study.

Filopanti M et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Common polymorphisms in the GH/IGF-1 axis contribute to growth in extremely tall subjects.

Hendriks AE et al.

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

The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor.

Bozzola M et al.

Molecular Genetics and Metabolism, 2009

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

Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome.

Fassone L et al.

Journal of Endocrinological Investigation, 2007

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

Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study.

Alharazy S et al.

Pakistan Journal of Medical Sciences, 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."