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An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium.
The membrane of the primary cilium is a highly specialized compartment that organizes proteins to achieve spatially ordered signaling. Disrupting ciliary organization leads to diseases calledExpand
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Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene, BBS3 (ARL6), which includes an additional exon. ThisExpand
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Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration
Bardet–Biedl syndrome (BBS) is a syndromic form of retinal degeneration. Recently, homozygosity mapping with a consanguineous family with isolated retinitis pigmentosa identified a missense mutationExpand
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Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases
Phosphoribosyl pyrophosphate synthetase-1 (PRPS1) is a key enzyme in nucleotide biosynthesis, and mutations in PRPS1 are found in several human diseases including nonsyndromic sensorineural deafness,Expand
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Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A
Congenital heart malformations, including those of the great vessels, are among the most common human birth defects. The goal of this study was to identify the significance of a de novo mosaic PTPN12Expand
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ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome
Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently describedExpand
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Elucidating a role for BBS3 in syndromic and non- syndromic retinal disease
Bardet-Biedl Syndrome (BBS) is a syndromic form of retinitis pigmentosa, characterized by retinal degeneration, obesity, learning disabilities, congenital abnormalities and increased incidences ofExpand