References of "Angelini, M"
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See detailSomatostatin analogues increase AIP expression in somatotropinomas, irrespective of Gsp mutations
Jaffrain-Réa, ML; Rotondi, S; Turchi, A et al

in Endocrine-Related Cancer (2013), 20

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See detailAry Hydrocarbon receptor interacting protein (AIP) on somatotroph adenomas : a molecular target for somatostatin analogues ?
JAFFRAIN-REA, M; ANGELINI, M; OCCHI, G et al

in Endocrine abstracts - May 2012, volume 29 (2012, May)

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See detailCaractérisation des facteurs associés à la perte d'expression de AIP dans les adénomes hypophysaires somatotropes
Jaffrain-Rea, M. L.; Angelini, M.; Tichomirowa, M. et al

in Annales d'Endocrinologie (2010, September), 71(5), 406

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See detailFactors associated with AIP expression in somatotropinomas and the possible influence of somatostatin analogues
Jaffrain-Rea, M. L.; Angelini, M.; Tichomirowa, M. et al

in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September)

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See detailCaractérisation des facteurs associés à la perte d'expression de AIP dans les adénomes hypophysaires somatotropes
Jaffrain-Rea, M.; Angelini, M.; Tichomirowa, M. et al

in 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September)

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See detailSomatotropinomas in patients with germline AIP mutations: absence of somatic mutations in the GNAS1 gene
Angelini, M.; Annarita, T.; Tichomirowa, M. et al

in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September)

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See detailThe R304X mutation of the Aryl hydrocarbon receptor Interacting Protein gene in familial isolated pituitary adenomas: mutational Hot-Spot or founder effect?
Occhi, G.; Jaffrain-Rea, M. L.; Trivellin, G. et al

in Journal of Endocrinological Investigation (2010), 33

Background: Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of kindreds with Familial Isolated Pituitary Adenomas (FIPA) and in a minority of ... [more ▼]

Background: Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of kindreds with Familial Isolated Pituitary Adenomas (FIPA) and in a minority of early onset sporadic pituitary adenomas (PA). Among the AIP mutations reported so far, the R304X (AIPR304X) represents, together with the "Finnish mutation" Q14X, the most common one. Methods: Three AIPR304X Italian families, including a newly reported kindred, have been genotyped for 12 genetic markers surrounding the AIP gene in order to look for a potential founder effect in Italy. Disease penetrance and genotype-phenotype correlations were also addressed. Results: Analysis of chromosome 11' genetic markers revealed a common haplotype in two AIPR304X kindreds originating from central Italy. Overall, seventeen mutations carriers were identified, including 7 patients and 10 unaffected subjects, respectively, arguing in this case for a disease penetrance of 41%. Mean age at diagnosis was 19.1+/-6.7 years-old, with females tending to be older than males. Though most PA were somatotropinomas (6/7), a great variability in disease severity was observed, even between subjects sharing the same at-risk haplotype. Conclusion: These data provide strong evidence for a new founder effect of the AIPR304X mutation in central Italy and the observed variations in disease severity point out the role of additional genetic or environmental factors in such kindreds. [less ▲]

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See detailScreening for AIP mutations in young patients with pituitary macroadenomas
Jaffrain-Réa, M. L.; Tichomirova, M.; Angelini, M. et al

in 5° Incontro Italiano Malattie Ipotalamo Ipofisarie (2010, January)

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See detailExpression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications.
Jaffrain-Rea, M. L.; Angelini, M.; Gargano, D. et al

in Endocrine-Related Cancer (2009), 16(3), 1029-1043

Germline mutations of the aryl hydrocarbon receptor (AHR)-interacting protein (AIP) gene confer a predisposition to pituitary adenomas (PA), usually in the setting of familial isolated PA. To provide ... [more ▼]

Germline mutations of the aryl hydrocarbon receptor (AHR)-interacting protein (AIP) gene confer a predisposition to pituitary adenomas (PA), usually in the setting of familial isolated PA. To provide further insights into the possible role of AIP in pituitary tumour pathogenesis, the expression of AIP and AHR was determined by real-time RT-PCR and/or immunohistochemistry (IHC) in a large series of PA (n=103), including 17 with AIP mutations (AIP(mut)). Variable levels of AIP and AHR transcripts were detected in all PA, with a low AHR expression (P<0.0001 versus AIP). Cytoplasmic AIP and AHR were detected by IHC in 84.0 and 38.6% of PA respectively, and significantly correlated with each other (P=0.006). Nuclear AHR was detected in a minority of PA (19.7%). The highest AIP expression was observed in somatotrophinomas and non-secreting (NS) PA, and multivariate analysis in somatotrophinomas showed a significantly lower AIP immunostaining in invasive versus non-invasive cases (P=0.019). AIP expression was commonly low in other secreting PA. AIP immunostaining was abolished in a minority of AIP(mut) PA, with a frequent loss of cytoplasmic AHR and no evidence of nuclear AHR. In contrast, AIP overexpression in a subset of NS PA could be accompanied by nuclear AHR immunopositivity. We conclude that down-regulation of AIP and AHR may be involved in the aggressiveness of somatotrophinomas. Overall, IHC is a poorly sensitive tool for the screening of AIP mutations. Data obtained on AHR expression suggest that AHR signalling may be differentially affected according to PA phenotype. [less ▲]

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See detailLa mutazione R304X del gene AIP negli adenomi ipofisari : caratteristiche bio-cliniche e aspetti genetici e funzionali
Jaffrain-Réa, M. L.; Occhi, G.; de Menis, E. et al

in 4th Incontri Italiano Sulle Malattie Ipotalamo-Ipofisarie : Ferrara 29-31 gennaio 2009 (2009, January)

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