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rdf:type |
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lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0027662,
umls-concept:C0030705,
umls-concept:C0033105,
umls-concept:C0205422,
umls-concept:C0205549,
umls-concept:C0220825,
umls-concept:C0337810,
umls-concept:C0449438,
umls-concept:C1332737,
umls-concept:C1412302,
umls-concept:C1836668
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pubmed:issue |
3
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pubmed:dateCreated |
2010-8-18
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|
pubmed:abstractText |
Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene and the p27(KIP1) encoding gene CDKN1B have been associated with two well-defined hereditary conditions, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 4 (MEN4). Somatotropinomas are present in most AIP mutated FIPA kindreds, as well as in two-thirds of MEN4 patients who carry pituitary tumors.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1479-683X
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pubmed:author |
pubmed-author:ArnaldiGG,
pubmed-author:CastelloRR,
pubmed-author:CeccatoFF,
pubmed-author:DavìM VMV,
pubmed-author:De LazzariPP,
pubmed-author:DemattèSS,
pubmed-author:GiorgiGG,
pubmed-author:GrimaldiFF,
pubmed-author:ManteroFF,
pubmed-author:OcchiGG,
pubmed-author:OpocherGG,
pubmed-author:SalviatiLL,
pubmed-author:ScaroniCC,
pubmed-author:TrivellinGG
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pubmed:issnType |
Electronic
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pubmed:volume |
163
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
369-76
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:20530095-Acromegaly,
pubmed-meshheading:20530095-Adolescent,
pubmed-meshheading:20530095-Adult,
pubmed-meshheading:20530095-Aged,
pubmed-meshheading:20530095-Amino Acid Sequence,
pubmed-meshheading:20530095-Cyclin-Dependent Kinase Inhibitor p27,
pubmed-meshheading:20530095-Female,
pubmed-meshheading:20530095-Germ-Line Mutation,
pubmed-meshheading:20530095-Humans,
pubmed-meshheading:20530095-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:20530095-Italy,
pubmed-meshheading:20530095-Male,
pubmed-meshheading:20530095-Middle Aged,
pubmed-meshheading:20530095-Molecular Sequence Data,
pubmed-meshheading:20530095-Multiple Endocrine Neoplasia,
pubmed-meshheading:20530095-Pedigree,
pubmed-meshheading:20530095-Prevalence,
pubmed-meshheading:20530095-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia.
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pubmed:affiliation |
Endocrinology Division, Department of Medical and Surgical Sciences, Via Ospedale, 105, 35128 Padova, Italy. gianluca.occhi@unipd.it
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pubmed:publicationType |
Journal Article,
Comparative Study,
Multicenter Study
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