Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.Q217*
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AIP

NM_003977.4:p.Q217*

Associated Papers

Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.

Wang X et al.

Frontiers in Genetics, 2023

38192441 (PubMed )
Supplement: Table1.XLSX › Sheet2

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.

Goncharova M et al.

Clinical Genetics, 2019

AIP-mutated acromegaly resistant to first-generation somatostatin analogs: long-term control with pasireotide LAR in two patients.

Daly AF et al.

Endocrine Connections, 2019

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

Bolger GB et al.

Endocrine-related Cancer, 2016

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

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Beckers A et al.

Endocrine Reviews, 2013

AIP and its interacting partners.

Trivellin G et al.

The Journal of Endocrinology, 2011

Familial isolated pituitary adenomas: from genetics to therapy.

Guaraldi F et al.

Clinical and Translational Science, 2011

The immunophilin-like protein XAP2 is a negative regulator of estrogen signaling through interaction with estrogen receptor α.

Cai W et al.

Plos One, 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

The genetics of pituitary adenomas.

Vandeva S et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

The epidemiology and genetics of pituitary adenomas.

Daly AF et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2009

[Genetics of familial pituitary adenomas].

Beckers A et al.

Bulletin De L'academie Nationale De Medecine, 2009

Familial pituitary adenomas.

Tichomirowa MA et al.

Journal of Internal Medicine, 2009

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

Cazabat L et al.

Hormone Research, 2009

The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas.

Leontiou CA et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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

Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update.

Karhu A et al.

Human Molecular Genetics, 2007

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 2007

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