Varaico: Literature-Extracted Genetic Variants

Gene:GPR101
Variant:p.E308D
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GPR101

NM_054021.2:p.E308D

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_hom

Structure of GPR101-Gs enables identification of ligands with rejuvenating potential.

Yang Z et al.

Nature Chemical Biology, 2024

KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas.

Chasseloup F et al.

European Journal of Endocrinology, 2024

Pituitary Tumorigenesis-Implications for Management.

Vamvoukaki R et al.

Medicina (kaunas, Lithuania), 2023

Concurrent mutations of germline GPR101 and somatic USP8 in a pediatric giant pituitary ACTH adenoma: a case report.

Bao XD et al.

Bmc Endocrine Disorders, 2022

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis.

Trivellin G et al.

Endocrine-related Cancer, 2020

Somatic and germline mutations in the pathogenesis of pituitary adenomas.

Vandeva S et al.

European Journal of Endocrinology, 2019

Hypermethylator Phenotype and Ectopic GIP Receptor in GNAS Mutation-Negative Somatotropinomas.

Hage M et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.

Pepe S et al.

The Journal of Endocrinology, 2019

Mutations in GPR101 as a potential cause of X-linked acrogigantism and acromegaly.

Hou ZS et al.

Progress in Molecular Biology and Translational Science, 2019

An update on the genetics of benign pituitary adenomas in children and adolescents.

Hannah-Shmouni F et al.

Current Opinion in Endocrine and Metabolic Research, 2018

Genomic Alterations and Complex Subclonal Architecture in Sporadic GH-Secreting Pituitary Adenomas.

Hage M et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

Iivonen AP et al.

Endocrine Connections, 2018

Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.

Fukami M et al.

Clinical Endocrinology, 2018

Genomic Alterations in Sporadic Pituitary Tumors.

Bi WL et al.

Current Neurology and Neuroscience Reports, 2018

Genetic Aspects of Pituitary Adenomas.

Marques P et al.

Endocrinology and Metabolism Clinics of North America, 2017

Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening.

Iacovazzo D et al.

Expert Review of Endocrinology & Metabolism, 2017

The genetic background of acromegaly.

Gadelha MR et al.

Pituitary, 2017

Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.

Ferraù F et al.

Endocrine, 2016

Toward the next step in G protein-coupled receptor research: a knowledge-driven analysis for the next potential targets in drug discovery.

Nagata K et al.

Journal of Structural and Functional Genomics, 2016

Genetic and clinical characteristics of Japanese patients with sporadic somatotropinoma.

Matsumoto R et al.

Endocrine Journal, 2016

Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.

Tšuiko O et al.

Human Reproduction (oxford, England), 2016

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.

Iacovazzo D et al.

Acta Neuropathologica Communications, 2016

GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency.

Castinetti F et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2016

Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas.

Lecoq AL et al.

European Journal of Endocrinology, 2016

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.

Daly AF et al.

Endocrine-related Cancer, 2016

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.

Campbell IM et al.

Human Mutation, 2016

Genomic insights into growth and its disorders: an update.

de Bruin C et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2016

Gigantism, acromegaly, and GPR101 mutations.

Daly AF et al.

The New England Journal of Medicine, 2015

Gigantism, acromegaly, and GPR101 mutations.

Roohi J

The New England Journal of Medicine, 2015

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

Trivellin G et al.

The New England Journal of Medicine, 2014

Genetics of gigantism and acromegaly.

Hannah-Shmouni F et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 0

Gigantism: X-linked acrogigantism and GPR101 mutations.

Iacovazzo D et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 0

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