000160048 001__ 160048
000160048 005__ 20180913060229.0
000160048 0247_ $$2doi$$a10.1016/j.ajhg.2009.01.006
000160048 02470 $$2ISI$$a000263799700015
000160048 037__ $$aARTICLE
000160048 245__ $$aMutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta
000160048 269__ $$a2009
000160048 260__ $$c2009
000160048 336__ $$aJournal Articles
000160048 520__ $$aCone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic cone-rod dystrophies are genetically heterogeneous with mutations in genes encoding structural, cell-adhesion, and transporter proteins. Using a genome-wide single-nucleotide polymorphism (SNIP) haplotype analysis to fine map the locus and a gene-candidate approach, we Identified homozygous mutations in the ancient conserved domain protein 4 gene (CNNM4) that either generate a truncated protein or occur in highly conserved regions of the protein. Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis.
000160048 6531_ $$aGene
000160048 6531_ $$aProteins
000160048 6531_ $$aFamily
000160048 6531_ $$aLocus
000160048 6531_ $$aAcdp
000160048 700__ $$aPolok, Bozena
000160048 700__ $$aEscber, Pascal
000160048 700__ $$aAmbresin, Aude
000160048 700__ $$aChouery, Eliane
000160048 700__ $$aBolay, Sylvain
000160048 700__ $$aMeunier, Isabelle
000160048 700__ $$aNan, Francis
000160048 700__ $$aHamel, Christian
000160048 700__ $$aMunier, Francis L.
000160048 700__ $$aThilo, Bernard
000160048 700__ $$aMegarbane, Andre
000160048 700__ $$aSchorderet, Daniel F.
000160048 773__ $$j84$$q259-265$$tAmerican Journal Of Human Genetics
000160048 909C0 $$0252372$$pSV$$xU10445
000160048 909CO $$ooai:infoscience.tind.io:160048$$pSV$$particle
000160048 917Z8 $$xWOS-2010-11-30
000160048 937__ $$aEPFL-ARTICLE-160048
000160048 973__ $$aEPFL$$rREVIEWED$$sPUBLISHED
000160048 980__ $$aARTICLE