TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. - Wikidata - awgldk - TriplyDB

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

http://www.wikidata.org/entity/Q35011677

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Transcriptomic analysis of human retinal detachment reveals both inflammatory response and photoreceptor death Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder Retinal dystrophies, genomic applications in diagnosis and prospects for therapy Calcium, TRPC channels, and regulation of the actin cytoskeleton in podocytes: towards a future of targeted therapies Channelopathy pathogenesis in autism spectrum disorders Retinal degeneration in the fly A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness Transient receptor potential channels as therapeutic targets Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)TRPM1 mutations are associated with the complete form of congenital stationary night blindness Autoantibodies in Melanoma-Associated Retinopathy Recognize an Epitope Conserved Between TRPM1 and TRPM3.Identification of autoantibodies against TRPM1 in patients with paraneoplastic retinopathy associated with ON bipolar cell dysfunction A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.Oligomeric state of purified transient receptor potential melastatin-1 (TRPM1), a protein essential for dim light vision.Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness Efficient transduction and optogenetic stimulation of retinal bipolar cells by a synthetic adeno-associated virus capsid and promoter.Autoantibody against transient receptor potential M1 cation channels of retinal ON bipolar cells in paraneoplastic vitelliform retinopathy.Assessment of night vision problems in patients with congenital stationary night blindness Transient receptor potential melastatin 1 (TRPM1) is an ion-conducting plasma membrane channel inhibited by zinc ions.Autoantibodies in melanoma-associated retinopathy target TRPM1 cation channels of retinal ON bipolar cells Serum TRPM1 autoantibodies from melanoma associated retinopathy patients enter retinal on-bipolar cells and attenuate the electroretinogram in mice Transient receptor potential melastatin 1: a hair cell transduction channel candidate.Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites Voriconazole, an antifungal triazol that causes visual side effects, is an inhibitor of TRPM1 and TRPM3 channels TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner.Differential function of Gγ13 in rod bipolar and ON cone bipolar cells.Genetic variants in transient receptor potential cation channel, subfamily M 1 (TRPM1) and their risk of albuminuria-related traits in Mexican Americans.Sensitivity and kinetics of signal transmission at the first visual synapse differentially impact visually-guided behavior.Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature iPS Cells for Modelling and Treatment of Retinal Diseases mGluR6 deletion renders the TRPM1 channel in retina inactive.GNAT1 associated with autosomal recessive congenital stationary night blindness.Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

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P2860

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

http://www.wikidata.org/entity/Q35011677

description

2009 nî lūn-bûn

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2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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TRPM1 is mutated in patients w ...... al stationary night blindness.

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TRPM1 is mutated in patients w ...... al stationary night blindness.

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J.AJHG.2009.10.013

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American Journal of Human Genetics

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Agnes B Renner

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Aline Antonio

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Antje Bernd

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Bart P Leroy

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Bernd Wissinger

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Birgit Lorenz

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Charlotte M Poloschek

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Christian P Hamel

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Daniel F Schorderet

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Eberhart Zrenner

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P2860

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

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking

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

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

Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex

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José-Alain Sahel

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Kinga Bujakowska

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Elfride De Baere

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congenital stationary night blindness

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