References of "Daly, Adrian"
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See detailThe genetic causes of pituitary gigantism
Rostomyan, Liliya ULg; Lysy, P; Desfilles, C et al

in Abstract book - Symposium "Perspectives in Endocrinology" (2016, January)

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See detailCancer thyroïdien familial non médullaire : actualités cliniques et génétiques
VALDES SOCIN, Hernan Gonzalo ULg; Gonon Rodrigues Palmeira, Leonor ULg; Burlacu, MC et al

in Revue Médicale de Liège (2016), 71

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See detailA vital region for human glycoprotein hormone trafficking revealed by an LHB mutation.
Potorac, Iulia ULg; Rivero-Muller, Adolfo; Trehan, Ashutosh et al

in Journal of Endocrinology (2016), 231(3), 197-207

Glycoprotein hormones are complex hormonally active macromolecules. Luteinizing hormone (LH) is essential for the postnatal development and maturation of the male gonad. Inactivating LHB gene mutations ... [more ▼]

Glycoprotein hormones are complex hormonally active macromolecules. Luteinizing hormone (LH) is essential for the postnatal development and maturation of the male gonad. Inactivating LHB gene mutations are exceptionally rare and lead to hypogonadism that is particularly severe in males. We describe a family with selective LH deficiency and hypogonadism in two brothers. DNA sequencing of LHB was performed and the effects of genetic variants on hormone function and secretion were characterized by mutagenesis studies, confocal microscopy and functional assays. A 20-year-old male from a consanguineous family had pubertal delay, hypogonadism and undetectable LH. A homozygous c.118_120del (p.Lys40del) mutation was identified in the patient and his brother, who subsequently had the same phenotype. Treatment with hCG led to pubertal development, increased circulating testosterone and spermatogenesis. Experiments in HEK293 cells revealed that the mutant LH is retained intracellularly and showed diffuse cytoplasmic distribution. The mutated LHB heterodimerizes with the common alpha subunit and can activate its receptor. Deletion of flanking glutamic acid residues at positions 39 and 41 impair LH to a similar extent as deletion of Lys40. This region is functionally important across all heterodimeric glycoprotein hormones, because deletion of the corresponding residues in hCG, follicle-stimulating hormone and thyroid-stimulating hormone beta-subunits also led to intracellular hormone retention. This novel LHB mutation results in hypogonadism due to intracellular sequestration of the hormone and reveals a discrete region in the protein that is crucial for normal secretion of all human glycoprotein hormones. [less ▲]

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See detailBreast cancer in a male to female transsexual patient with a BRCA2 mutation
CORMAN, Vinciane ULg; Potorac, Iulia ULg; Manto, Florence ULg et al

in Endocrine-Related Cancer (2016), 23(5), 391-397

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g., BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels), have been implicated in ... [more ▼]

Breast cancer is rare in male patients. Certain predisposing factors, be they genetic (e.g., BRCA2 gene mutations) or hormonal (imbalance between estrogen and androgen levels), have been implicated in male breast cancer pathophysiology. Male-to-female (MtF) transsexualism is a condition that generally involves cross-sex hormone therapy. Anti-androgens and estrogens are used to mimic the female hormonal environment and induce the cross-sex secondary characteristics. In certain situations, the change in the hormonal milieu can be disadvantageous and favor the development of hormonedependent pathologies, such as cancer. We report a case of a MtF transgender patient who developed breast cancer after 7 years of cross-sex hormonal therapy. The patient was found to be BRCA2 positive, and suffered recurrent disease. The patient was unaware of being a member of an established BRCA2 mutation-positive kindred. This represents the first case of a BRCA2 mutation predisposing to breast cancer in a MtF transgender patient. [less ▲]

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See detailGPR101 mutations are not a frequent cause of congenital isolated growth hormone deficiency
Castinetti, F; Daly, Adrian ULg; Stratakis, CA et al

in Hormone & Metabolic Research (2016)

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See detailScreening for GPR101 defects in pediatric pituitary corticotropinomas.
Trivellin, Giampaolo; Correa, Ricardo R.; Batsis, Maria et al

in Endocrine-related cancer (2016), 23(5), 357-365

Cushing disease (CD) in children is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas. Germline or somatic mutations in genes such as MEN1, CDKIs, AIP, and USP8 have been ... [more ▼]

Cushing disease (CD) in children is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas. Germline or somatic mutations in genes such as MEN1, CDKIs, AIP, and USP8 have been identified in pediatric CD, but the genetic defects in a significant percentage of cases are still unknown. We investigated the orphan G protein-coupled receptor GPR101, a gene known to be involved in somatotropinomas, for its possible involvement in corticotropinomas. We performed GPR101 sequencing, expression analyses by RT-qPCR and immunostaining, and functional studies (cell proliferation, pituitary hormones secretion, and cAMP measurement) in a series of patients with sporadic CD secondary to ACTH-secreting adenomas in whom we had peripheral and tumor DNA (N=36). No increased GPR101 expression was observed in tumors compared to normal pituitary (NP) tissues, nor did we find a correlation between GPR101 and ACTH expression levels. Sequence analysis revealed a very rare germline heterozygous GPR101 variant (p.G31S) in one patient with CD. Overexpression of the p.G31S variant did not lead to increased growth and proliferation, although modest effects on cAMP signaling were seen. GPR101 is not overexpressed in ACTH-secreting tumors compared to NPs. A rare germline GPR101 variant was found in one patient with CD but in vitro studies did not support a consistent pathogenic effect. GPR101 is unlikely to be involved in the pathogenesis of CD. [less ▲]

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See detailExpression of Peroxisome Proliferator-Activated Receptor alpha (PPARalpha) in somatotropinomas: Relationship with Aryl hydrocarbon receptor Interacting Protein (AIP) and in vitro effects of fenofibrate in GH cells.
Rotondi, Sandra; Modarelli, Alessio; Oliva, Maria-Antonietta et al

in Molecular and cellular endocrinology (2016)

PURPOSE: To search for a possible role of Peroxisome Proliferator-Activated Receptor alpha (PPARalpha), a molecular partner of the Aryl hydrocarbon receptor Interacting Protein (AIP), in somatotropinomas ... [more ▼]

PURPOSE: To search for a possible role of Peroxisome Proliferator-Activated Receptor alpha (PPARalpha), a molecular partner of the Aryl hydrocarbon receptor Interacting Protein (AIP), in somatotropinomas. METHODS: Tumours from 51 acromegalic patients were characterized for PPARalpha and AIP expression by immunohistochemistry (IHC) and/or Real Time RT-PCR. Data were analysed according to tumour characteristics and pre-operative treatment with somatostatin analogues (SSA). The effects of fenofibrate were studied in GH3 cells in vitro. RESULTS: PPARalpha was expressed in most somatotropinomas. A modest relationship was found between PPARalpha and AIP expression, both being significantly higher in the presence of pre-operative SSA. However, only AIP expression was influenced by the response to treatment. Dual effects of fenofibrate were observed in GH3 cells, consisting of cell growth inhibition and an increase in GH secretion inhibited by octreotide. CONCLUSIONS: PPARalpha is a new player in somatotropinomas. Potential interactions between PPARalpha agonists and SSA may deserve further investigation. [less ▲]

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See detailHow T2-weighted signal intensity of GH-secreting adenomas correlates wit response to primary somatostatin analogue therapy in acromegaly
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

in Abstract book - 25th meeting of the Belgian Endocrine Society (2015, October)

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See detailUne forme compliquée d'hypercalcémie hypocalciurique familiale
Potorac, Iulia ULg; BETEA, Daniela ULg; MALAISE, Olivier ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

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See detailHyperparathyroïdie primaire familiale isolée - corrélation génotype - phénotype des mutations MEN 1?
Potorac, Iulia ULg; BETEA, Daniela ULg; PETROSSIANS, Patrick ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

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See detailNew genetic cause of gigantism and FIPA
Rostomyan, Liliya ULg; Daly, Adrian ULg; Trivellin, G et al

in Abstract book - 25th meeting of the Belgian Endocrine Society (2015, October)

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See detailEtude moléculaire du gène AIP sur plus de 1400 individus atteints d'adénome hypophysaire
CASTERMANS, Emilie ULg; Auriemma, R; Rostomyan, Liliya ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

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See detailNew insights in the genetics of acrogigantism
Rostomyan, Liliya ULg; Daly, Adrian ULg; Beckers, Albert ULg

Scientific conference (2015, September)

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See detailA novel mutation of the luteinizing hormone/choionic gonadotrophin receptor gene leading to Leydig cell hypoplasia type I
Potorac, Iulia ULg; Rivero-Muller, A; Pintiaux, Axelle ULg et al

in The International Journal of The Romania Society of Endocrinology - Abstract book (2015, June)

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See detailFrom FIPA to gigantism
Beckers, Albert ULg; Potorac, Iulia ULg; Rostomyan, Liliya ULg et al

in The International Journal of The Romania Society of Endocrinology - Abstract book (2015, June)

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See detailDo T2-hypointense GH-secreting pituitary adenomas behave differently under somatostatin analogues as primary therapy in acromegaly ?
Potorac, Iulia ULg; PETROSSIANS, Patrick ULg; Daly, Adrian ULg et al

in The International Journal of The Romania Society of Endocrinology - Abstract book (2015, June)

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See detailThe genetic causes of pituitary gigantism
Rostomyan, Liliya ULg; Daly, Adrian ULg; PETROSSIANS, Patrick ULg et al

in Endocrine Abstracts (2015, May)

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See detailPancreatitis in familial hypocalciuric hypercalcaemia
Potorac, Iulia ULg; MALAISE, Olivier ULg; Daly, Adrian ULg et al

in Endocrine Abstracts (2015, May)

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See detailRecurrence of GH-secreting pituitary adenoms during puberty in children with germline AIP mutations : a clinical challenge
Filliponi, S; Esposito, V; Daly, Adrian ULg et al

in Endocrine Abstracts (2015, May)

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See detailMolecular analysis of miRNA expression profiles in AIP mutation positive somatotropinomas
Falk, N; Daly, Adrian ULg; Beckers, Albert ULg et al

in Endocrine Abstracts (2015, May)

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