|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A Novel Mutation of Aryl Hydrocarbon Receptor Interacting Protein Gene Associated with Familial Isolated Pituitary Adenoma Mediates Tumor Invasion and Growth Hormone Hypersecretion.
|
30447469 |
2019 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to assess MEN1 genetic abnormalities in AIP mutation-negative FIPA patients, not associated with MEN1 components.
|
30630164 |
2019 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial isolated pituitary adenoma (FIPA) is caused in about 20% of cases by loss-of-function germline mutations in the <i>AIP</i> gene.
|
28427099 |
2017 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In a subset of FIPA families AIP germline mutations have been reported, but in most FIPA cases the exact genetic defect remains unknown.
|
27245436 |
2016 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred.
|
27838609 |
2016 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
AIP mutations occurred in 29%; microduplication at Xq26.3 - X-linked acrogigantism (X-LAG) - occurred in two familial isolated pituitary adenoma kindreds and in ten sporadic patients.
|
26187128 |
2015 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To determine the AIP mutational status of FIPA and young pituitary adenoma patients, analyzing their clinical characteristics, and to perform clinical screening of apparently unaffected AIPmut carrier family members.
|
26186299 |
2015 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We did not detect AIP mutations in patients with FIPAs or sporadic pituitary adenomas, including the gigantism case.
|
25938168 |
2015 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The genetic alterations responsible for the formation of familial pituitary syndromes include the MEN1 gene, responsible for about 80% of MEN1 cases, the regulatory subunit of the protein kinase A, PRKAR1A, responsible for about 70% of Carney complex cases, and AIP, the gene coding the aryl hydrocarbon receptor interacting protein, responsible for about 20% of FIPA cases.
|
25248598 |
2014 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A germline mutation of c.943C > T (p.Q315X) generating an AIP protein with the C-terminal end deleted was found in the FIPA family.
|
24789813 |
2014 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.
|
24423289 |
2014 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene have been associated with a predisposition to familial isolated pituitary adenoma.
|
24996936 |
2014 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
FIPA, an autosomal-dominant disease with variable penetrance, is explained in 20% of patients by germline mutations in the tumor suppressor aryl hydrocarbon receptor interacting protein(AIP), while no gene abnormality has been identified to date in the majority of the FIPA families.
|
23652674 |
2013 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
The aryl hydrocarbon receptor interacting protein (AIP) gene has a major role in the pathogenesis of familial isolated pituitary adenoma.
|
23633209 |
2013 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Should aip gene screening be recommended in family members of FIPA patients with R16H variant?
|
22915287 |
2013 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are characterized by young-onset somatotroph or lactotroph macroadenomas, while in the other, larger group of FIPA patients with typically adult-onset disease and more varied adenoma types, no causative gene(s) has been identified.
|
22612670 |
2012 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Eighty-eight AIP mutation-negative FIPA families were studied and 124 affected subjects underwent sequencing of CDKN1B.
|
22291433 |
2012 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
About 20 % of the families with FIPA harbor inactivating mutation in aryl hydrocarbon receptor-interacting protein gene (AIP) associated with loss of heterozygosity of the same genetic locus (11q13) in the tumor.
|
22527616 |
2012 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This review aims to summarize currently available clinical data on AIP mutation-positive and negative FIPA patients.
|
23310926 |
2012 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
These candidate regions may contain unidentified gene(s) that can be potentially disrupted in AIP-negative FIPA families.
|
20616498 |
2010 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Somatotropinomas are present in most AIP mutated FIPA kindreds, as well as in two-thirds of MEN4 patients who carry pituitary tumors.
|
20530095 |
2010 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the aryl hydrocarbon receptor interacting protein (AIP) gene have been reported in 15-40% of FIPA patients.
|
20506337 |
2010 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Approximately 20% of patients with FIPA harbour germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene located on 11q13.
|
20541668 |
2010 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The recently identified gene AIP can also cause familial isolated pituitary adenoma, but no other specific tumour is associated with this syndrome.
|
18710468 |
2009 |
|
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The objective of the study was to assess the frequency of AIP gene mutations in a large cohort of patients with familial isolated pituitary adenoma (FIPA).
|
17244780 |
2007 |