Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
about
Repetitive DNA and next-generation sequencing: computational challenges and solutionsCalpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degenerationWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyRoles for retrotransposon insertions in human diseaseRetinal dystrophies, genomic applications in diagnosis and prospects for therapyConcise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye DiseasePatient-Specific iPSC-Derived RPE for Modeling of Retinal DiseasesHuman transposon tectonicsUsing human induced pluripotent stem cells to treat retinal diseaseRegulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cellsInduced pluripotent stem cell potential in medicine, specifically focused on reproductive medicineEfficient 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 signalingAlu mobile elements: from junk DNA to genomic gemsFunctional impact of the human mobilomeWhole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.Distinct expression patterns of ICK/MAK/MOK protein kinases in the intestine implicate functional diversity.Photoreceptor Outer Segment-like Structures in Long-Term 3D Retinas from Human Pluripotent Stem CellsPrioritization of retinal disease genes: an integrative approachGenetic 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.Mobile elements in the human genome: implications for diseaseAutozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Genes and mutations causing retinitis pigmentosa.Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathyTranscriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-SeqStem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.Ocular Phenotype of a Family with FAM161A-associated Retinal DegenerationPersonalized therapeutic strategies for patients with retinitis pigmentosa.Gene therapy using stem cellsUse of human pluripotent stem cells to study and treat retinopathiesRNA-Seq: Improving Our Understanding of Retinal Biology and Disease.Stem cells as tools for studying the genetics of inherited retinal degenerations.Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).iPS Cells for Modelling and Treatment of Retinal DiseasesProbing disorders of the nervous system using reprogramming approaches.Using Stem Cells to Model Diseases of the Outer RetinaNonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing
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P2860
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) 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
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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 analysis ...... cause of retinitis pigmentosa
@ast
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@en
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@en-gb
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@nl
type
label
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@ast
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@en
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@en-gb
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@nl
prefLabel
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@ast
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@en
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@en-gb
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@nl
P2093
P2860
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P1476
Exome sequencing and analysis ...... cause of retinitis pigmentosa
@en
P2093
Jeremy M Hoffmann
Rebecca M Johnston
Val C Sheffield
P2860
P304
P3181
P356
10.1073/PNAS.1108918108
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P577
2011-08-23T00:00:00Z