about
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessMutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyEfficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis PigmentosaLrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)The CXC-chemokine CXCL4 interacts with integrins implicated in angiogenesis.Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessTargeted exon sequencing in Usher syndrome type IStudy of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.CRB1 mutations in inherited retinal dystrophiesDevelopment and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.Photoreceptor Cilia and Retinal Ciliopathies.Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.Ift172 conditional knockout mice exhibit rapid retinal degeneration and protein trafficking defects.A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single familiesExpanding the phenotypic spectrum in RDH12-associated retinal diseaseCopy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
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description
hulumtuese
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հետազոտող
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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Kinga Bujakowska
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P106
P21
P31
P3835
kinga-bujakowska
P496
0000-0001-6809-9818