Diarrhée chlorée congénitale

Filières :

• FIRENDO : Filière Maladies Rares ENDOcrinennes
• ORKID : Filière maladies rénales rares (OR KIdney Disease)
• OSCAR : Filière maladies rares de l'os, du calcium et du cartilage

Réseaux :

• Réseau National d’oncogénétique des tumeurs endocrines. TENGEN Coordonnateur Pr Anne BARLIER, Laboratoire de Biologie Moléculaire Hôpital de la Conception, CHU Marseille.
• Réseau ANPGM des laboratoire de génétique moléculaire des Maladies rares Endocriniennes, coordonnateur Pr Anne BARLIER, Laboratoire de Biologie Moléculaire Hôpital de la Conception, CHU Marseille
• Réseau PREDIR Maladie de VHL et prédispositions héréditaires au cancer du rein, Coordonateur Pr Stéphane RICHARD
• Centre de référence maladies rares hypophysaires  DEFHY Pr T. BRUE, Service d'endocrinologie CHU Timone, Marseille.
• Réseau national de Prise en Charge des Tumeurs (neuro)-Endocrines Malignes rares sporadiques et héréditaires (RENATEN) Pr NICCOLI
• Centre de Compétence "maladies rares des surcharges en Fer" Pr D. BOTTA-FRIDLUND, Service d'Hépatologie hôp. Conception Marseille.

Projets de recherche et contrats avec l’industrie pharmaceutique :

Publications :

2017 (en cours) :

• Brue T, Saveanu A, Jullien N, Fauquier T, Castinetti F, Enjalbert A, Barlier A, Reynaud R. Lessons from monogenic causes of growth hormone deficiency. Ann Endocrinol (Paris). 2017 May 5. pii: S0003-4266(17)30025-2. doi: 10.1016/j.ando.2017.04.001. [Epub ahead of print] PubMed PMID: 28483366.  
• Abdullah AE, Guerin C, Imperiale A, Barlier A, Battini S, Pertuit M, Roche P, Essamet W, Vaisse B, Pacak K, Sebag F, Taïeb D. Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report. Oncol Lett. 2017 Mar;13(3):1083-1086. doi: 10.3892/ol.2017.5599. Epub 2017 Jan 12. PubMed PMID: 28454217; PubMed Central PMCID: PMC5403169.
• Mohamed A, Romano D, Saveanu A, Roche C, Albertelli M, Barbieri F, Brue T, Niccoli P, Delpero JR, Garcia S, Ferone D, Florio T, Moutardier V, Poizat F, Barlier A, Gerard C. Anti-proliferative and anti-secretory effects of everolimus on human pancreatic neuroendocrine tumors primary cultures: is there any benefit from combination with somatostatin analogs? Oncotarget. 2017 Apr 10. doi: 10.18632/oncotarget.17008. [Epub ahead of print] PubMed PMID: 28454119.
• Maignan A, Guerin C, Julliard V, Paladino NC, Kim E, Roche P, Castinetti F, Essamet W, Mancini J, Imperiale A, Clifton-Bligh R, Romanet P, Barlier A, Pacak K, Sebag F, Taïeb D. Implications of SDHB genetic testing in patients with sporadic pheochromocytoma. Langenbecks Arch Surg. 2017 Feb 22. doi: 10.1007/s00423-017-1564-y. [Epub ahead of print] PubMed PMID: 28229225.
• Kern B, Coppin L, Romanet P, Crépin M, Szuster I, Renaud F, Leteurtre E, Frénois F, Wemeau JL, Carnaille B, Cardot-Bauters C, Cao CD, Pigny P. Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of "thyroid-checked" controls. Eur J Med Genet. 2017 Mar;60(3):178-184. doi: 10.1016/j.ejmg.2017.01.001. Epub 2017 Jan 9. PubMed PMID: 28089742.
•  

2016 :

• Graillon T, Romano D, Defilles C, Saveanu A, Mohamed A, Figarella-Branger D, Roche PH, Fuentes S, Chinot O, Dufour H, Barlier A. Octreotide therapy in meningiomas: in vitro study, clinical correlation, and literature review. J Neurosurg. 2016 Dec 16:1-10. doi: 10.3171/2016.8.JNS16995. [Epub ahead of print] PubMed PMID: 27982767.
• Chen S, Cavazza E, Barlier C, Salleron J, Filhine-Tresarrieu P, Gavoilles C, Merlin JL, Harlé A. Beside P53 and PTEN: Identification of molecular alterations of the RAS/MAPK and PI3K/AKT signaling pathways in high-grade serous ovarian carcinomas to determine potential novel therapeutic targets. Oncol Lett. 2016 Nov;12(5):3264-3272. Epub 2016 Sep 2. PubMed PMID: 27899992; PubMed Central PMCID: PMC5103928.
• Romanet P, Guerin C, Pedini P, Essamet W, Castinetti F, Sebag F, Roche P, Cascon A, Tischler AS, Pacak K, Barlier A, Taïeb D. Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation. Endocr Pathol. 2016 Nov 12. [Epub ahead of print] PubMed PMID: 27838885.
• Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, Elli FM, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, de Nanclares GP, Linglart A. From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network. Eur J Endocrinol. 2016 Dec;175(6):P1-P17. Epub 2016 Jul 11. Review. PubMed PMID: 27401862.
• 9uny T, Zeiller C, Bidlingmaier M, Défilles C, Roche C, Blanchard MP, Theodoropoulou M, Graillon T, Pertuit M, Figarella-Branger D, Enjalbert A, Brue T, Barlier A. In vitro impact of pegvisomant on growth hormone-secreting pituitary adenoma cells. Endocr Relat Cancer. 2016 Jul;23(7):509-19. doi: 10.1530/ERC-16-0140. Epub 2016 Jun 7. PubMed PMID: 27267119; PubMed Central PMCID: PMC5064756.
• Rossignol L, Vaux S, Maugat S, Blake A, Barlier R, Heym B, Le Strat Y, Blanchon T, Hanslik T, Coignard B. Incidence of urinary tract infections and antibiotic resistance in the outpatient setting: a cross-sectional study. Infection. 2017 Feb;45(1):33-40. doi: 10.1007/s15010-016-0910-2. Epub 2016 May 27. PubMed PMID: 27234045.
• Daly AF, Yuan B, Fina F, Caberg JH, Trivellin G, Rostomyan L, de Herder WW, Naves LA, Metzger D, Cuny T, Rabl W, Shah N, Jaffrain-Rea ML, Zatelli MC, Faucz FR, Castermans E, Nanni-Metellus I, Lodish M, Muhammad A, Palmeira L, Potorac I, Mantovani G, Neggers SJ, Klein M, Barlier A, Liu P, Ouafik L, Bours V, Lupski JR, Stratakis CA, Beckers A. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Endocr Relat Cancer. 2016 Apr;23(4):221-33. doi: 10.1530/ERC-16-0082. Epub 2016 Mar 2. PubMed PMID: 26935837; PubMed Central PMCID: PMC4877443.
• Vujovic S, Vujosevic S, Kavaric S, Sopta J, Ivovic M, Saveanu A, Brue T, Korbonits M, Popovic V. Cancerous leptomeningitis and familial congenital hypopituitarism. Endocrine. 2016 May;52(2):231-5. doi: 10.1007/s12020-016-0868-y. Epub 2016 Feb 17. PubMed PMID: 26886902.
• Castinetti F, Daly AF, Stratakis CA, Caberg JH, Castermans E, Trivellin G, Rostomyan L, Saveanu A, Jullien N, Reynaud R, Barlier A, Bours V, Brue T, Beckers A. GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency. Horm Metab Res. 2016 Jun;48(6):389-93. doi: 10.1055/s-0042-100733. Epub 2016 Jan 21. PubMed PMID: 26797872.
• Castinetti F, Reynaud R, Saveanu A, Jullien N, Quentien MH, Rochette C, Barlier A, Enjalbert A, Brue T. MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. Eur J Endocrinol. 2016 Jun;174(6):R239-47. doi: 10.1530/EJE-15-1095. Epub 2016 Jan 5. Review. PubMed PMID: 26733480.
• Chauvet N, Romanò N, Meunier AC, Galibert E, Fontanaud P, Mathieu MN, Osterstock G, Osterstock P, Baccino E, Rigau V, Loiseau H, Bouillot-Eimer S, Barlier A, Mollard P, Coutry N. Combining Cadherin Expression with Molecular Markers Discriminates Invasiveness in Growth Hormone and Prolactin Pituitary Adenomas. J Neuroendocrinol. 2016 Feb;28(2):12352. doi: 10.1111/jne.12352. PubMed PMID: 26686489.

2015 :

• Daly AF, Lysy PA, Desfilles C, Rostomyan L, Mohamed A, Caberg JH, Raverot V, Castermans E, Marbaix E, Maiter D, Brunelle C, Trivellin G, Stratakis CA, Bours V, Raftopoulos C, Beauloye V, Barlier A, Beckers A. GHRH excess and blockade in X-LAG syndrome. Endocr Relat Cancer. 2016 Mar;23(3):161-70. doi: 10.1530/ERC-15-0478. Epub 2015 Dec 15. PubMed PMID: 26671997. 
• Archier A, Varoquaux A, Garrigue P, Montava M, Guerin C, Gabriel S, Beschmout E, Morange I, Fakhry N, Castinetti F, Sebag F, Barlier A, Loundou A, Guillet B, Pacak K, Taïeb D. Prospective comparison of (68)Ga-DOTATATE and (18)F-FDOPA PET/CT in patients with various pheochromocytomas and paragangliomas with emphasis on sporadic cases. Eur J Nucl Med Mol Imaging. 2016 Jul;43(7):1248-57. doi: 10.1007/s00259-015-3268-2. Epub 2015 Dec 5. PubMed PMID: 26637204.
•  Taïeb D, Barlier A, Yang C, Pertuit M, Tchoghandjian A, Rochette C, Zattara-Canoni H, Figarella-Branger D, Zhuang Z, Pacak K, Metellus P. Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. J Neurooncol. 2016 Feb;126(3):473-81. doi: 10.1007/s11060-015-1983-y. Epub 2015 Oct 29. PubMed PMID: 26514359. 
• Nielsen HM, How-Kit A, Guerin C, Castinetti F, Vollan HK, De Micco C, Daunay A, Taieb D, Van Loo P, Besse C, Kristensen VN, Hansen LL, Barlier A, Sebag F, Tost J. Copy number variations alter methylation and parallel IGF2 overexpression in adrenal tumors. Endocr Relat Cancer. 2015 Dec;22(6):953-67. doi: 10.1530/ERC-15-0086. Epub 2015 Sep 23. PubMed PMID: 26400872; PubMed Central PMCID: PMC4621769.
• Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Le Bras M, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Pasmant E, Chabre O, Castermans E, Ruszniewski P, Bertherat J, Delemer B, Christin-Maitre S, Beckers A, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Schillo F, Bihan H, Archambeaud F, Kerlan V, Bourcigaux N, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P. Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study. Eur J Endocrinol. 2015 Dec;173(6):819-26. doi: 10.1530/EJE-15-0691. Epub 2015 Sep 21. PubMed PMID: 26392472.
• Rostomyan L, Daly AF, Petrossians P, Nachev E, Lila AR, Lecoq AL, Lecumberri B, Trivellin G, Salvatori R, Moraitis AG, Holdaway I, Kranenburg-van Klaveren DJ, Chiara Zatelli M, Palacios N, Nozieres C, Zacharin M, Ebeling T, Ojaniemi M, Rozhinskaya L, Verrua E, Jaffrain-Rea ML, Filipponi S, Gusakova D, Pronin V, Bertherat J, Belaya Z, Ilovayskaya I, Sahnoun-Fathallah M, Sievers C, Stalla GK, Castermans E, Caberg JH, Sorkina E, Auriemma RS, Mittal S, Kareva M, Lysy PA, Emy P, De Menis E, Choong CS, Mantovani G, Bours V, De Herder W, Brue T, Barlier A, Neggers SJ, Zacharieva S, Chanson P, Shah NS, Stratakis CA, Naves LA, Beckers A.
• Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. Endocr Relat Cancer. 2015 Oct;22(5):745-57. doi: 10.1530/ERC-15-0320. Epub 2015 Jul 17. PubMed PMID: 26187128.
• Chanson P, Raverot G, Castinetti F, Cortet-Rudelli C, Galland F, Salenave S; French Endocrinology Society non-functioning pituitary adenoma work-group.. Management of clinically non-functioning pituitary adenoma. Ann Endocrinol (Paris). 2015 Jul;76(3):239-47. doi: 10.1016/j.ando.2015.04.002. Epub 2015 Jun 10. Review. PubMed PMID: 26072284.
• Graillon T, Defilles C, Mohamed A, Lisbonis C, Germanetti AL, Chinot O, Figarella-Branger D, Roche PH, Adetchessi T, Fuentes S, Metellus P, Dufour H, Enjalbert A, Barlier A. Combined treatment by octreotide and everolimus: Octreotide enhances inhibitory effect of everolimus in aggressive meningiomas. J Neurooncol. 2015 Aug;124(1):33-43. doi: 10.1007/s11060-015-1812-3. Epub 2015 May 27. PubMed PMID: 26015296.
• Sarfati J, Saveanu A, Young J. Pituitary stalk interruption and olfactory bulbs aplasia/hypoplasia in a man with Kallmann syndrome and reversible gonadotrope and somatotrope deficiencies. Endocrine. 2015 Aug;49(3):865-6. doi: 10.1007/s12020-014-0475-8. Epub 2014 Nov 9. PubMed PMID: 25381604
• Rochette C, Jullien N, Saveanu A, Caldagues E, Bergada I, Braslavsky D, Pfeifer M, Reynaud R, Herman JP, Barlier A, Brue T, Enjalbert A, Castinetti F. Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue. PLoS One. 2015 May 8;10(5):e0126648. doi: 10.1371/journal.pone.0126648. eCollection 2015. PubMed PMID: 25955177; PubMed Central PMCID: PMC4425544.
• Jullien N, Roche C, Brue T, Figarella-Branger D, Graillon T, Barlier A, Herman JP. Dose-dependent dual role of PIT-1 (POU1F1) in somatolactotroph cell proliferation and apoptosis. PLoS One. 2015 Mar 30;10(3):e0120010. doi: 10.1371/journal.pone.0120010. eCollection 2015. PubMed PMID: 25822178; PubMed Central PMCID: PMC4379079.
• Romanet P, Osei L, Netchine I, Pertuit M, Enjalbert A, Reynaud R, Barlier A. Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism. Pediatrics. 2015 Apr;135(4):e1079-83. doi: 10.1542/peds.2014-2806. PubMed PMID: 25802348.
• Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, de Nanclares GP, Silve C, Thiele S, Werner R. European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study. Eur J Hum Genet. 2015 Apr;23(4):560. doi: 10.1038/ejhg.2015.40. PubMed PMID: 25762030; PubMed Central PMCID: PMC4666586.
• Imperiale A, Moussallieh FM, Roche P, Battini S, Cicek AE, Sebag F, Brunaud L, Barlier A, Elbayed K, Loundou A, Bachellier P, Goichot B, Stratakis CA, Pacak K, Namer IJ, Taïeb D. Metabolome profiling by HRMAS NMR spectroscopy of pheochromocytomas and paragangliomas detects SDH deficiency: clinical and pathophysiological implications. Neoplasia. 2015 Jan;17(1):55-65. doi: 10.1016/j.neo.2014.10.010. PubMed PMID: 25622899; PubMed Central PMCID: PMC4309730.
• Cuny T, Barlier A, Feelders R, Weryha G, Hofland LJ, Ferone D, Gatto F. Medical therapies in pituitary adenomas: Current rationale for the use and future perspectives. Ann Endocrinol (Paris). 2015 Feb;76(1):43-58. doi: 10.1016/j.ando.2014.10.002. Epub 2014 Nov 11. Review. PubMed PMID: 25556152.
• Dénes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Boguszewski CL, Dutta P, Thakker RV, Srirangalingam U, Thompson CJ, Druce M, Higham C, Davis J, Eeles R, Stevenson M, O'Sullivan B, Taniere P, Skordilis K, Gabrovska P, Barlier A, Webb SM, Aulinas A, Drake WM, Bevan JS, Preda C, Dalantaeva N, Ribeiro-Oliveira A Jr, Garcia IT, Yordanova G, Iotova V, Evanson J, Grossman AB, Trouillas J, Ellard S, Stratakis CA, Maher ER, Roncaroli F, Korbonits M. Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12. PubMed PMID: 25494863; PubMed Central PMCID: PMC4333031.
• Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 Dec 18;371(25):2363-74. doi: 10.1056/NEJMoa1408028. Epub 2014 Dec 3. PubMed PMID: 25470569; PubMed Central PMCID: PMC4291174.