|
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 |
|
Acromegaly
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We aimed to investigate possible AIP and GH co-secretion, through studying serum AIP and GH levels at baseline and after GH stimulation or suppression, in GH deficiency (GHD) and in acromegaly patients.
|
30830858 |
2019 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We detected chromothripsis-related CNA profiles in two adenoma samples from an AIP mutation-positive patient with acromegaly and a patient with sporadic gigantism.
|
29474559 |
2018 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of aryl hydrocarbon receptor-interacting protein (AIP) gene and somatostatin receptor 1-5 and AIP immunostaining in patients with sporadic acromegaly with poor versus good response to somatostatin analogues.
|
29455389 |
2018 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients harboring <i>AIP</i> mutations usually present with somatotropinomas resulting either in gigantism or young-onset acromegaly.
|
28427099 |
2017 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with AIP mutations tended to have an earlier onset of acromegaly and harboured larger and more invasive tumours.
|
27033541 |
2016 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We correlated the occurrence of AHR and/or AHR-interacting protein (AIP) gene variants with acromegaly severity according to pollution exposition.
|
26963951 |
2016 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
|
26815903 |
2016 |
|
Acromegaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
The prevalence of AIP(mut) in Turkish patients was found to be 1 % in sporadic acromegaly in the present study.
|
26021842 |
2015 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study.
|
25093619 |
2014 |
|
Acromegaly
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
AIP protein expression was similar in neoplastic and normal cells, while AHR protein was expressed more in PTCs carrying BRAF mutations than in normal tissue, irrespective of acromegaly status.
|
25019383 |
2014 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germline AIP mutations usually cause young-onset acromegaly with low penetrance in a subset of familial isolated pituitary adenoma families.
|
24423289 |
2014 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Of the 6 acromegaly patients with AIP mutation (F/M: 3/3) the mean age at diagnosis of acromegaly was 32 ± 10.3 years while the mean age of symptom onset was 24.8 ± 9.9 years.
|
23743763 |
2014 |
|
Acromegaly
|
0.400 |
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 |
|
Acromegaly
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
AIP germline mutations show a low, but non-negligible, prevalence in non-familial acromegaly patients with tumors resistant to treatment with somatostatin analogues.
|
23038625 |
2013 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The clinical characteristics of acromegaly associated with AIP mutations are reportedly macroadenomas with tumor extension and invasion, lower decreases in GH and IGF-I and less tumor shrinkage with SSA treatment, and sparsely granulated somatotroph cell type, which are comparable with those observed in PANCH.
|
23674160 |
2013 |
|
Acromegaly
|
0.400 |
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 |
|
Acromegaly
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
Mutations of the aryl hydrocarbon receptor interacting protein (AIP) have been associated with familial isolated pituitary adenomas predisposing to young-onset acromegaly and gigantism.
|
23300914 |
2012 |
|
Acromegaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
Adrenal lesions in acromegaly: do metabolic aspects and aryl hydrocarbon receptor interacting protein gene have a role? Evaluation at baseline and after long-term follow-up.
|
20595802 |
2011 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To date, the number of molecular genetic factors unequivocally linked to pituitary tumours can be counted on the fingers of one hand: (1) GNAS1 activation in acromegaly; (2) the MENIN and p27Kip1 (CDKN1B) mutations associated with multiple endocrine neoplasia type 1; (3) mutations of PRKA1RA with loss of 17q22-24 in Carney complex, and (4) aryl hydrocarbon receptor interacting protein gene mutations in 15% of familial isolated pituitary adenomas and 50% of familial isolated acromegaly.
|
21778740 |
2011 |
|
Acromegaly
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
Pathogenesis of familial acromegaly.
|
20616502 |
2010 |
|
Acromegaly
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
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.
|
20530095 |
2010 |
|
Acromegaly
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the aryl hydrocarbon receptor-interacting protein (AIP) were identified as germline events leading to pituitary tumor predisposition in Finnish and Italian families with familial growth hormone-secreting pituitary adenomas and acromegaly.
|
17916996 |
2007 |
|
Acromegaly
|
0.400 |
Biomarker
|
disease |
BEFREE |
Aryl hydrocarbon receptor-interacting protein and acromegaly.
|
18174729 |
2007 |