|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The AIP c.911G>A: rs104894190" genes_norm="9049">p.Arg304Gln (rs104894190) variant was detected in only two patients with functional PA: one with somatotropinoma [in 1/55 (1.8%)] and one with prolactinoma [in 1/25 (4%)].
|
30461320 |
2018 |
|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene cause mostly somatotropinomas and/or prolactinomas in a subset of familial isolated pituitary adenomas (FIPA).
|
29726992 |
2018 |
|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PPARα was expressed in a majority of PA. PPARα immunostaining was observed in 93.7% PRL-PA vs. 60.6% NFPA (p=0.016), the opposite being found for AIP (83.3% in NFPA vs. 43.7% in PRL-PA, p=0.003).
|
30021235 |
2018 |
|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While penetrance of the disease can be as low as 10% in FIPA, especially children and young patients with somatotropinoma and prolactinoma should be surveyed for inactivating mutations or deletions in AIP.
|
27838609 |
2016 |
|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
AIP variants were detected in 3% of the 127 patients, comprising four of 48 patients with acromegaly (8%), 0 of 43 with prolactinomas, 0 of the 20 patients with non-functioning adenomas, 0 of 15 with corticotroph adenomas and 0 of one with a thyrotroph adenomas.
|
25184284 |
2014 |
|
Prolactinoma
|
0.700 |
SusceptibilityMutation
|
disease |
ORPHANET |
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.
|
23321498 |
2013 |
|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
AIP mutations are usually associated with somatotropinomas, but prolactinomas, nonfunctioning pituitary adenomas, Cushing disease, and other infrequent clinical adenoma types can also occur.
|
23371967 |
2013 |
|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
AIP mutations were detected in 16 (3.6%) of the 443 patients, comprising six of 148 patients with acromegaly (4.1%), six of 132 patients with prolactinomas (4.5%), one of 113 patients with nonfunctioning adenomas (0.9%), three of 44 patients with corticotropic adenomas (6.8%), and none of the six patients with thyrotropic adenomas.
|
22319033 |
2012 |
|
Prolactinoma
|
0.700 |
SusceptibilityMutation
|
disease |
ORPHANET |
AIP mutations were detected in 16 (3.6%) of the 443 patients, comprising six of 148 patients with acromegaly (4.1%), six of 132 patients with prolactinomas (4.5%), one of 113 patients with nonfunctioning adenomas (0.9%), three of 44 patients with corticotropic adenomas (6.8%), and none of the six patients with thyrotropic adenomas.
|
22319033 |
2012 |
|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patients with AIP mutations have an overwhelming predominance of somatotroph and lactotroph adenomas, which often present in childhood or young adulthood.
|
20541668 |
2010 |
|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Aggressive prolactinoma in a child related to germline mutation in the ARYL hydrocarbon receptor interacting protein (AIP) gene.
|
21340166 |
2010 |
|
Prolactinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A prolactinoma in a young child may be due to sequence variants in genes that are known to cause these tumors ( MEN1, PRKAR1A, AIP).
|
19391077 |
2009 |
|
Prolactinoma
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Prolactinoma
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Screening of AIP Gene Variations in a Cohort of Turkish Patients with Young-Onset Sporadic Hormone-Secreting Pituitary Adenomas.
|
30461320 |
2018 |
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas.
|
18410548 |
2008 |
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
|
17360484 |
2007 |
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas.
|
17299063 |
2007 |
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
|
17360484 |
2007 |
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma.
|
17341560 |
2007 |
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.
|
17244780 |
2007 |
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
|
17360484 |
2007 |
|
PITUITARY ADENOMA 1, MULTIPLE TYPES
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
|
16728643 |
2006 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We studied two AIP-mutation positive acromegaly patients with early-onset, invasive macroadenomas and inoperable residues after neurosurgery.
|
30851160 |
2019 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We enrolled 77 wild-type AIP gene acromegaly patients, who have been screened for germline AHR rs2066853 variant and GSTP1 gene promoter methylation.
|
30488289 |
2019 |