rdf:type |
|
lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0027662,
umls-concept:C0030705,
umls-concept:C0031809,
umls-concept:C0039082,
umls-concept:C0169665,
umls-concept:C0538286,
umls-concept:C0596611,
umls-concept:C0598086,
umls-concept:C0598388,
umls-concept:C0694884,
umls-concept:C1412302,
umls-concept:C1415887,
umls-concept:C1419040,
umls-concept:C1420433,
umls-concept:C1424666
|
pubmed:issue |
2
|
pubmed:dateCreated |
2009-2-9
|
pubmed:abstractText |
Germline mutations in the MEN1 gene predispose to the multiple endocrine neoplasia (MEN1) syndrome; however, approximately 10-20% of patients with MEN1 do not have a detectable MEN1 mutation. A rat strain with multiple endocrine tumours, a phenotypic overlap of both MEN1 and MEN2, has been reported to have a homozygous germline p27 (CDKN1B) mutation. Recently, two MEN1 mutation-negative MEN1 syndrome patients have been identified to harbour a germline CDKN1B mutation. The recently identified gene AIP can also cause familial isolated pituitary adenoma, but no other specific tumour is associated with this syndrome. The objective of this study was to evaluate the possible contribution of CDKN1B and AIP germline mutations in a cohort of MEN1 mutation-negative MEN1 syndrome patients.
|
pubmed:grant |
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Feb
|
pubmed:issn |
1365-2265
|
pubmed:author |
pubmed-author:AkkerScott ASA,
pubmed-author:BurmanPiaP,
pubmed-author:ChahalHarvinder SHS,
pubmed-author:DamjanovicSvetozarS,
pubmed-author:GrossmanAshley BAB,
pubmed-author:GueorguievMariaM,
pubmed-author:HakkoHelinäH,
pubmed-author:IgrejaSusanaS,
pubmed-author:KorbonitsMártaM,
pubmed-author:PopovicVeraV,
pubmed-author:QuintonRichardR
|
pubmed:issnType |
Electronic
|
pubmed:volume |
70
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
259-64
|
pubmed:dateRevised |
2011-11-17
|
pubmed:meshHeading |
pubmed-meshheading:18710468-Adult,
pubmed-meshheading:18710468-Aged,
pubmed-meshheading:18710468-Cohort Studies,
pubmed-meshheading:18710468-Cyclin-Dependent Kinase Inhibitor p27,
pubmed-meshheading:18710468-Female,
pubmed-meshheading:18710468-Genetic Predisposition to Disease,
pubmed-meshheading:18710468-Germ-Line Mutation,
pubmed-meshheading:18710468-Great Britain,
pubmed-meshheading:18710468-Humans,
pubmed-meshheading:18710468-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:18710468-Male,
pubmed-meshheading:18710468-Middle Aged,
pubmed-meshheading:18710468-Multiple Endocrine Neoplasia Type 1,
pubmed-meshheading:18710468-Proto-Oncogene Proteins,
pubmed-meshheading:18710468-Serbia
|
pubmed:year |
2009
|
pubmed:articleTitle |
Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations.
|
pubmed:affiliation |
Department of Endocrinology, Barts and the London School of Medicine, London, UK.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|