Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. - Wikidata - wikimedia - TriplyDB

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

http://www.wikidata.org/entity/Q30370834

about

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease Pituitary gigantism: update on molecular biology and management cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors.Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.The genetic background of acromegaly.Genetics of gigantism and acromegaly.Acromegaly: clinical features at diagnosis.Overview of the 2017 WHO Classification of Pituitary Tumors.AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation.AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience.Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.Risk category system to identify pituitary adenoma patients with AIP mutations.Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland.In vivo bioassay to test the pathogenicity of missense human AIP variants.Frequency of familial pituitary adenoma syndromes among patients with functioning pituitary adenomas in a reference outpatient clinic.Genetics of Cushing's Syndrome.Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.Interaction of AIP with protein kinase A (cAMP-dependent protein kinase).Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family.Recent advances in understanding corticotroph pituitary tumor initiation and progression

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Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

http://www.wikidata.org/entity/Q30370834

description

2015 nî lūn-bûn

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2015 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2015 թվականի հուլիսին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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The Journal of Clinical Endocrinology and Metabolism

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Landscape of Familial Isolated ...... nosis in AIP Mutation Carriers

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Ashley B Grossman

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Daniel Tilley

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International FIPA Consortium

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Jane Evanson

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Judit Dénes

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Karen Stals

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Mónica R Gadelha

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Plamena Gabrovska

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P2860

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

Clinical correlates in acromegalic patients with pituitary tumors expressing GSP oncogenes.

The FGFR4-G388R polymorphism promotes mitochondrial STAT3 serine phosphorylation to facilitate pituitary growth hormone cell tumorigenesis

AIP mutation in pituitary adenomas in the 18th century and today.

Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).

Clinical characterization of familial isolated pituitary adenomas.

The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.

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

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

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

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10.1210/JC.2015-1869

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100

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Giampaolo Trivellin

Federico Roncaroli

Francesco Ferraù

Marta Korbonits

Laura C Hernández-Ramírez

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2015-09-01T00:00:00Z

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