Abstract Search

ea0029s40.1 | New familial endocrine cancer syndromes: pathophysiology and counselling | ICEECE2012

DICER1 mutations characterize a novel syndrome with endocrine features

Wu M. , Priest J. , Hamel N. , Sabbaghian N. , Xu B. , Tischkowitz M. , Choong C. , Deal C. , Albrecht S. , Charles A. , Goodyer P. , Foulkes W.

DICER1 is a microRNA processing-RNase III-type endoribonuclease and is crucial for embryogenesis and early development. Nearly 50 different heterozygous germ-line DICER1 mutations have been reported world-wide in individuals who developed, as children or young adults, pleuropulmonary blastoma, cystic nephroma, ovarian sex cord stromal tumors (especially SertoliLeydig cell tumor), multi-nodular goiter, embryonal rhabdomyosarcoma (of cervix and other typical sites), Wilms ...

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ea0073oc6.2 | Oral Communications 6: Calcium and Bone | ECE2021

AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

Zhukouskaya Volha , Jauze Louisa , Charles Séverine , Leborgne Christian , Hilliquin Stéphane , Sadoine Jérémy , Slimani Lotfi , Baroukh Brigitte , van Wittenberghe Laetitia , Daniele Natalie , Rajas Fabienne , Linglart Agnès , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe

Adeno‐associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitati...

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Endocrine Abstracts

DICER1 mutations characterize a novel syndrome with endocrine features

AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

BiosciAbstracts