Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis - Wikidata - awgldk - TriplyDB

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

http://www.wikidata.org/entity/Q28271982

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Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing.Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.NMNAT: It's an NAD+ synthase… It's a chaperone… It's a neuroprotector.Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations Hope on the (fruit) fly: the Drosophila wing paradigm of axon injury.Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants Nmnat1-Rbp7 Is a Conserved Fusion-Protein That Combines NAD+ Catalysis of Nmnat1 with Subcellular Localization of Rbp7 NMNAT2:HSP90 Complex Mediates Proteostasis in Proteinopathies.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.Alternative splicing of Drosophila Nmnat functions as a switch to enhance neuroprotection under stress.Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.Molecular chaperones protect against JNK- and Nmnat-regulated axon degeneration in Drosophila Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes.Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease The NAD+ synthesis enzyme nicotinamide mononucleotide adenylyltransferase (NMNAT1) regulates ribosomal RNA transcription Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese.Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.NMNATs, evolutionarily conserved neuronal maintenance factors.NAMPT-Mediated NAD(+) Biosynthesis Is Essential for Vision In Mice.Reductive carboxylation is a major metabolic pathway in the retinal pigment epithelium.Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.Diversification of NAD biological role: the importance of location.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Next-generation sequencing applied to rare diseases genomics.Wallerian degeneration: an emerging axon death pathway linking injury and disease.Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.Deficiency of nicotinamide mononucleotide adenylyltransferase 3 (nmnat3) causes hemolytic anemia by altering the glycolytic flow in mature erythrocytes.Chaperoning the synapse--NMNAT protects Bruchpilot from crashing.Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.The genetic profile of Leber congenital amaurosis in an Australian cohort.NMNAT1 variants cause cone and cone-rod dystrophy.Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

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Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

http://www.wikidata.org/entity/Q28271982

description

2012 nî lūn-bûn

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2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

@ast

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

@en

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

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label

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

@ast

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

@en

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

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prefLabel

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

@ast

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

@en

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

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Nature Genetics

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Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

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Christopher Barnett

http://www.w3.org/2001/XMLSchema#string

Dianna Wheaton

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Haixue Gan

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Jing Zhong

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Joanne Sutherland

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Juan Wang

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Juliana Maria Ferraz Sallum

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KuangHsiang Chuang

http://www.w3.org/2001/XMLSchema#string

Luis Alexandre Rassi Gabriel

http://www.w3.org/2001/XMLSchema#string

Megan Day

http://www.w3.org/2001/XMLSchema#string

P2860

Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity

Safety and efficacy of gene transfer for Leber's congenital amaurosis

Structure of human NMN adenylyltransferase. A key nuclear enzyme for NAD homeostasis

Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

Wallerian degeneration, wld(s), and nmnat.

Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene.

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.

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1076323

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10.1038/NG.2370

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9

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44

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1015072189

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