Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
about
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyDisease gene identification strategies for exome sequencingRegulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cellsEfficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis PigmentosaIntestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signalingMutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophyNew mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophyDistinct expression patterns of ICK/MAK/MOK protein kinases in the intestine implicate functional diversity.Tubulin transport by IFT is upregulated during ciliary growth by a cilium-autonomous mechanismSterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.An effort to use human-based exome capture methods to analyze chimpanzee and macaque exomes.Hybrid mice reveal parent-of-origin and Cis- and trans-regulatory effects in the retinaVision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and diseaseRNA-Seq: Improving Our Understanding of Retinal Biology and Disease.iSyTE: integrated Systems Tool for Eye gene discovery.Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Activation loop phosphorylation of a protein kinase is a molecular marker of organelle size that dynamically reports flagellar length.Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis PigmentosaCell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Systems biology of lens development: A paradigm for disease gene discovery in the eye.A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Intraflagellar Transport and Ciliary Dynamics.Photoreceptor Cilia and Retinal Ciliopathies.Genes and molecular pathways underpinning ciliopathies.OR2W3 sequence variants are unlikely to cause inherited retinal diseases.Loss of ift122, a Retrograde Intraflagellar Transport (IFT) Complex Component, Leads to Slow, Progressive Photoreceptor Degeneration Due to Inefficient Opsin Transport.High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration.Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.
P2860
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P2860
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
description
2011 nî lūn-bûn
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2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Exome sequencing and cis-regul ...... cause of retinitis pigmentosa.
@ast
Exome sequencing and cis-regul ...... cause of retinitis pigmentosa.
@en
type
label
Exome sequencing and cis-regul ...... cause of retinitis pigmentosa.
@ast
Exome sequencing and cis-regul ...... cause of retinitis pigmentosa.
@en
prefLabel
Exome sequencing and cis-regul ...... cause of retinitis pigmentosa.
@ast
Exome sequencing and cis-regul ...... cause of retinitis pigmentosa.
@en
P2093
P2860
P1476
Exome sequencing and cis-regul ...... cause of retinitis pigmentosa
@en
P2093
Anna M Siemiatkowska
Anneke I den Hollander
Avigail Beryozkin
B Jeroen Klevering
Carel B Hoyng
Connie A Myers
Didem Yücel
Dror Sharon
European Retinal Disease Consortium
Eyal Banin
P2860
P304
P356
10.1016/J.AJHG.2011.07.005
P407
P577
2011-08-01T00:00:00Z