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Haploinsufficiency of the mouse Tshz3 gene leads to kidney defects.
Sanchez-Martin I, Magalhães P, Ranjzad P, Fatmi A, Richard F, Manh TPV, Saurin AJ, Feuillet G, Denis C, Woolf AS, Schanstra JP, Zürbig P, Caubit X, Fasano L. Sanchez-Martin I, et al. Among authors: richard f. Hum Mol Genet. 2022 Jun 22;31(12):1921-1945. doi: 10.1093/hmg/ddab362. Hum Mol Genet. 2022. PMID: 34919690
CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.
Pellissier LP, Lundvig DM, Tanimoto N, Klooster J, Vos RM, Richard F, Sothilingam V, Garcia Garrido M, Le Bivic A, Seeliger MW, Wijnholds J. Pellissier LP, et al. Among authors: richard f. Hum Mol Genet. 2014 Jul 15;23(14):3759-71. doi: 10.1093/hmg/ddu089. Epub 2014 Feb 23. Hum Mol Genet. 2014. PMID: 24565864
Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis.
Pellissier LP, Alves CH, Quinn PM, Vos RM, Tanimoto N, Lundvig DM, Dudok JJ, Hooibrink B, Richard F, Beck SC, Huber G, Sothilingam V, Garcia Garrido M, Le Bivic A, Seeliger MW, Wijnholds J. Pellissier LP, et al. Among authors: richard f. PLoS Genet. 2013;9(12):e1003976. doi: 10.1371/journal.pgen.1003976. Epub 2013 Dec 5. PLoS Genet. 2013. PMID: 24339791 Free PMC article.
Hook2 is involved in the morphogenesis of the primary cilium.
Baron Gaillard CL, Pallesi-Pocachard E, Massey-Harroche D, Richard F, Arsanto JP, Chauvin JP, Lecine P, Krämer H, Borg JP, Le Bivic A. Baron Gaillard CL, et al. Among authors: richard f. Mol Biol Cell. 2011 Dec;22(23):4549-62. doi: 10.1091/mbc.E11-05-0405. Epub 2011 Oct 12. Mol Biol Cell. 2011. PMID: 21998199 Free PMC article.
793 results