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Summary Expression Phenotypes Gene Literature (110) GO Terms (5) Nucleotides (479) Proteins (54) Interactants (1143) Wiki
XB--974001

Papers associated with psmd6 (and OMIM)



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Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes., Lansdon LA, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A, Bonde G, Long A, Standley J, Tyryshkina A, Wehby G, Lee NR, Daack-Hirsch S, Mohlke K, Girirajan S, Darbro BW, Cornell RA, Houston DW, Murray JC, Manak JR., Am J Hum Genet. January 5, 2023; 110 (1): 71-91.                          

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy., Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'haene E, Shaya FS, Agemy S, Van der Snickt T, Rey AD, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, Vleminckx K, De Baere E., Am J Hum Genet. November 3, 2022; 109 (11): 2029-2048.                                    

Deep learning is widely applicable to phenotyping embryonic development and disease., Naert T, Çiçek Ö, Ogar P, Bürgi M, Shaidani NI, Kaminski MM, Xu Y, Grand K, Vujanovic M, Prata D, Hildebrandt F, Brox T, Ronneberger O, Voigt FF, Helmchen F, Loffing J, Horb ME, Willsey HR, Lienkamp SS., Development. November 1, 2021; 148 (21):                                                                 

Rab11fip5 regulates telencephalon development via ephrinB1 recycling., Yoon J, Garo J, Lee M, Sun J, Hwang YS, Daar IO., Development. February 2, 2021; 148 (3):                                                             

The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development., Beckers A, Adis C, Schuster-Gossler K, Tveriakhina L, Ott T, Fuhl F, Hegermann J, Boldt K, Serth K, Rachev E, Alten L, Kremmer E, Ueffing M, Blum M, Gossler A., Development. June 15, 2020; 147 (21):                                       

Conservation and divergence of protein pathways in the vertebrate heart., Federspiel JD, Tandon P, Wilczewski CM, Wasson L, Herring LE, Venkatesh SS, Cristea IM, Conlon FL., PLoS Biol. September 6, 2019; 17 (9): e3000437.                                                    

The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels., Schadzek P, Schlingmann B, Schaarschmidt F, Lindner J, Koval M, Heisterkamp A, Preller M, Ngezahayo A., Biochim Biophys Acta. January 1, 2016; 1858 (1): 57-66.                        

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