Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness - Wikidata - wikimedia - TriplyDB

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

http://www.wikidata.org/entity/Q34318093

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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy Pharmacogenomics of adverse drug reactions A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing Knowledge discovery in variant databases using inductive logic programming.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Developments in Ocular Genetics: 2013 Annual Review Oligomeric state of purified transient receptor potential melastatin-1 (TRPM1), a protein essential for dim light vision.Clinical characteristics and current therapies for inherited retinal degenerations Mutation of Elfn1 in mice causes seizures and hyperactivity.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness The Effect of PKCα on the Light Response of Rod Bipolar Cells in the Mouse Retina Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics Photoreceptor and postreceptor responses in congenital stationary night blindness.A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome.Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness.Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.GPR179 is required for high sensitivity of the mGluR6 signaling cascade in depolarizing bipolar cells.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease.Mechanism for Selective Synaptic Wiring of Rod Photoreceptors into the Retinal Circuitry and Its Role in Vision.G protein signaling in the retina and beyond: the Cogan lecture Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.CACNA1S expression in mouse retina: Novel isoforms and antibody cross-reactivity with GPR179.Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report.Insight into the molecular genetics of myopia.Differential epitope masking reveals synapse-specific complexes of TRPM1.

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Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

http://www.wikidata.org/entity/Q34318093

description

2012 nî lūn-bûn

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2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի դեկտեմբերին 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

Whole-exome sequencing identif ...... tal stationary night blindness

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Whole-exome sequencing identif ...... tal stationary night blindness

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Whole-exome sequencing identif ...... tal stationary night blindness

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type

label

Whole-exome sequencing identif ...... tal stationary night blindness

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Whole-exome sequencing identif ...... tal stationary night blindness

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Whole-exome sequencing identif ...... tal stationary night blindness

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prefLabel

Whole-exome sequencing identif ...... tal stationary night blindness

@ast

Whole-exome sequencing identif ...... tal stationary night blindness

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Whole-exome sequencing identif ...... tal stationary night blindness

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J.AJHG.2012.10.023

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American Journal of Human Genetics

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Whole-exome sequencing identif ...... tal stationary night blindness

@en

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Aline Antonio

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Béatrice Bocquet

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Christelle Michiels

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Christian P Hamel

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Claire Audier

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Congenital Stationary Night Blindness Consortium

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Elise Orhan

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Hoan Nguyen

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Hélène Dollfus

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Jean-Paul Saraiva

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P2860

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1

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1

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José-Alain Sahel

Florian Sennlaub

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Kinga Bujakowska

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23246293

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congenital stationary night blindness

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