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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
Carrié A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J. Carrié A, et al. Among authors: ropers hh. Nat Genet. 1999 Sep;23(1):25-31. doi: 10.1038/12623. Nat Genet. 1999. PMID: 10471494
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrié A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J. Zemni R, et al. Among authors: ropers hh. Nat Genet. 2000 Feb;24(2):167-70. doi: 10.1038/72829. Nat Genet. 2000. PMID: 10655063
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, Beldjord C. Bienvenu T, et al. Among authors: ropers hh. Am J Med Genet. 2000 Aug 14;93(4):294-8. doi: 10.1002/1096-8628(20000814)93:4<294::aid-ajmg8>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10946356
MECP2 is highly mutated in X-linked mental retardation.
Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B. Couvert P, et al. Among authors: ropers hh. Hum Mol Genet. 2001 Apr 15;10(9):941-6. doi: 10.1093/hmg/10.9.941. Hum Mol Genet. 2001. PMID: 11309367
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
des Portes V, Beldjord C, Chelly J, Hamel B, Kremer H, Smits A, van Bokhoven H, Ropers HH, Claes S, Fryns JP, Ronce N, Gendrot C, Toutain A, Raynaud M, Moraine C. des Portes V, et al. Among authors: ropers hh. Am J Med Genet. 1999 Jul 30;85(3):263-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<263::aid-ajmg15>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10398240 No abstract available.
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, Raynaud M. Laumonnier F, et al. Among authors: ropers hh. Mol Psychiatry. 2010 Jul;15(7):767-76. doi: 10.1038/mp.2009.14. Epub 2009 Feb 24. Mol Psychiatry. 2010. PMID: 19238151
427 results