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CXorf6 is a causative gene for hypospadias.
Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjöld A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T. Fukami M, et al. Among authors: laporte j. Nat Genet. 2006 Dec;38(12):1369-71. doi: 10.1038/ng1900. Epub 2006 Nov 5. Nat Genet. 2006. PMID: 17086185
MAMLD1 (CXorf6): a new gene involved in hypospadias.
Ogata T, Laporte J, Fukami M. Ogata T, et al. Among authors: laporte j. Horm Res. 2009;71(5):245-52. doi: 10.1159/000208797. Epub 2009 Apr 1. Horm Res. 2009. PMID: 19339788 Free article. Review.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Donkervoort S, Kutzner CE, Hu Y, Lornage X, Rendu J, Stojkovic T, Baets J, Neuhaus SB, Tanboon J, Maroofian R, Bolduc V, Mroczek M, Conijn S, Kuntz NL, Töpf A, Monges S, Lubieniecki F, McCarty RM, Chao KR, Governali S, Böhm J, Boonyapisit K, Malfatti E, Sangruchi T, Horkayne-Szakaly I, Hedberg-Oldfors C, Efthymiou S, Noguchi S, Djeddi S, Iida A, di Rosa G, Fiorillo C, Salpietro V, Darin N, Fauré J, Houlden H, Oldfors A, Nishino I, de Ridder W, Straub V, Pokrzywa W, Laporte J, Foley AR, Romero NB, Ottenheijm C, Hoppe T, Bönnemann CG. Donkervoort S, et al. Among authors: laporte j. Am J Hum Genet. 2020 Dec 3;107(6):1078-1095. doi: 10.1016/j.ajhg.2020.11.002. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217308 Free PMC article.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: laporte j. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation.
Picas L, André-Arpin C, Comunale F, Bousquet H, Tsai FC, Rico F, Maiuri P, Pernier J, Bodin S, Nicot AS, Laporte J, Bassereau P, Goud B, Gauthier-Rouvière C, Miserey S. Picas L, et al. Among authors: laporte j. Commun Biol. 2024 May 9;7(1):549. doi: 10.1038/s42003-024-06168-8. Commun Biol. 2024. PMID: 38724689 Free PMC article.
1,090 results