New insights into the role of matrix metalloproteinase 3 ( MMP3 ) in bone

Autor: Frédéric Jehan, Mylène Zarka, Guillaume de la Houssaye, Joëlle Veziers, Agnès Ostertag, Martine Cohen‐Solal, Valérie Geoffroy

Publikováno v: FASEB BioAdvances
FASEB BioAdvances, 2022, 4 (8), pp.524-538. ⟨10.1096/fba.2021-00092⟩

International audience; The Matrix Metalloproteinases are important regulators of bone metabolism and can influence bone mass and bone remodeling. We investigate the role of Matrix Metalloproteinase 3 (MMP3) on bone in mice, by using Mmp3 knockout (M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf750f8b83afd02afffad73d07e235fb
https://hal-nantes-universite.archives-ouvertes.fr/hal-03898674/document

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

Autor: Anouk, Dansault, Gabriel, David, Claire, Schwartz, Carolina, Jaliffa, Véronique, Vieira, Guillaume, de la Houssaye, Karine, Bigot, Françise, Catin, Laurent, Tattu, Catherine, Chopin, Philippe, Halimi, Olivier, Roche, Nicole, Van Regemorter, Francis, Munier, Daniel, Schorderet, Jean-Louis, Dufier, Cécile, Marsac, Daniel, Ricquier, Maurice, Menasche, Alfred, Penfornis, Marc, Abitbol

Publikováno v: Molecular Vision, vol. 13, pp. 511-23
Molecular Vision

PURPOSE: The PAX6 gene was first described as a candidate for human aniridia. However, PAX6 expression is not restricted to the eye and it appears to be crucial for brain development. We studied PAX6 mutations in a large spectrum of patients who pres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8887ee0829c9dbe37810c38f2ffe479b
https://serval.unil.ch/notice/serval:BIB_D53EE0A856A7

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

Autor: Maurice Menasche, Jean-Louis Dufier, Hatem Zeghidi, Ivan Bièche, P. Rapp, Michel Vidaud, Guillaume de la Houssaye, Véronique Vieira, Marc Abitbol, Philippe Halimi, Ingrid Laurendeau, Laurence Arbogast, Olivier Roche

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, 2006, 7 (2), pp.82. ⟨10.1186/1471-2350-7-82⟩
BMC Medical Genetics, Vol 7, Iss 1, p 82 (2006)
BMC Medical Genetics, BioMed Central, 2006, 7 (2), pp.82. ⟨10.1186/1471-2350-7-82⟩
BMC Medical Genetics, BioMed Central, 2006, 7 (2), pp.82. 〈10.1186/1471-2350-7-82〉

Background Axenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in the g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6458228ae68815f0d6b60604ca79f6a2
https://www.hal.inserm.fr/inserm-00121215