Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.R16H
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AIP

NM_003977.4:p.R16H

Associated Papers

Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms.

Carranza-Zavala BR et al.

Endocrine-related Cancer, 2026

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.

Loughrey PB et al.

European Journal of Endocrinology, 2025

Mutations in the N-domain of aryl hydrocarbon receptor interacting protein affect interactions with heat shock protein 90β and phosphodiesterase 4A5.

Vella M et al.

Biochimie, 2025

An Update on the Genetic Drivers of Corticotroph Tumorigenesis.

Hernández-Ramírez LC et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma.

Martija AA et al.

Acta Neuropathologica Communications, 2023

37936247 (PubMed )
Supplement: 40478_2023_1673_MOESM5_ESM.xlsx › 345002

Low frequency of AIP mutations in patients with young-onset sporadic pituitary macroadenomas.

Gaspar LM et al.

Journal of Endocrinological Investigation, 2023

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Davidson AL et al.

Genome Medicine, 2023

37723522 (PubMed )
Supplement: 13073_2023_1223_MOESM1_ESM.xlsx › Table_S4

AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas.

Trofimiuk-Müldner M et al.

Frontiers in Endocrinology, 2023

RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas.

Garcia-Rendueles AR et al.

Oncogene, 2021

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS

In vivo bioassay to test the pathogenicity of missense human AIP variants.

Aflorei ED et al.

Journal of Medical Genetics, 2018

Co-occurrence of MEN1 p.Gly111fs and AIP p.Arg16His Variants in Familial MEN1 Phenotype.

DE Melo FM et al.

Anticancer Research, 2018

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Newey PJ et al.

Journal of the Endocrine Society, 2017

AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation.

Araujo PB et al.

Endocrine Connections, 2017

Aryl Hydrocarbon Receptor-Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function.

Formosa R et al.

Hormones & Cancer, 2017

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

Ferraù F et al.

Endocrine, 2016

Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors.

Bolger GB et al.

Endocrine-related Cancer, 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

Genetic mutations in sporadic pituitary adenomas--what to screen for?

Lecoq AL et al.

Nature Reviews. Endocrinology, 2015

An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene.

Dinesen PT et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2015

Regulation of aryl hydrocarbon receptor interacting protein (AIP) protein expression by MiR-34a in sporadic somatotropinomas.

Dénes J et al.

Plos One, 2015

Low rate of germline AIP mutations in patients with apparently sporadic pituitary adenomas before the age of 40: a single-centre adult cohort.

Preda V et al.

European Journal of Endocrinology, 2014

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1907.666

[Genetic screening for mutations enables early diagnosis of pituitary adenomas].

Dal J et al.

Ugeskrift for Laeger, 2014

Screening for AIP gene mutations in a Han Chinese pituitary adenoma cohort followed by LOH analysis.

Cai F et al.

European Journal of Endocrinology, 2013

Should aip gene screening be recommended in family members of FIPA patients with R16H variant?

Zatelli MC et al.

Pituitary, 2013

Familial isolated pituitary adenomas: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 2012

Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients.

Cazabat L et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.

Tichomirowa MA et al.

European Journal of Endocrinology, 2011

Genetic susceptibility in pituitary adenomas: from pathogenesis to clinical implications.

Jaffrain-Rea ML et al.

Expert Review of Endocrinology & Metabolism, 2011

Familial isolated pituitary adenomas: from genetics to therapy.

Guaraldi F et al.

Clinical and Translational Science, 2011

AIP gene and familial isolated pituitary adenomas.

Ozfirat Z et al.

Molecular and Cellular Endocrinology, 2010

Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma.

Cain JW et al.

Expert Review of Endocrinology & Metabolism, 2010

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Igreja S et al.

Human Mutation, 2010

[Genetics of familial pituitary adenomas].

Beckers A et al.

Bulletin De L'academie Nationale De Medecine, 2009

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer.

Raitila A et al.

Journal of Endocrinological Investigation, 2009

Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas.

Cazabat L et al.

Hormone Research, 2009

Aryl hydrocarbon receptor interacting protein gene (AIP) mutations are rare in patients with hormone secreting or non-secreting pituitary adenomas.

Buchbinder S et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2008

Characteristics of familial isolated pituitary adenomas.

Daly AF et al.

Expert Review of Endocrinology & Metabolism, 2007

The clinical, pathological, and genetic features of familial isolated pituitary adenomas.

Beckers A et al.

European Journal of Endocrinology, 2007

Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.

Cazabat L et al.

European Journal of Endocrinology, 2007

AIP gene in pituitary adenoma predisposition.

Vahteristo P et al.

Expert Review of Endocrinology & Metabolism, 2007

Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.

Daly AF et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas.

Barlier A et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers.

Georgitsi M et al.

British Journal of Cancer, 2007

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