Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking
about
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessA Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night BlindnessClustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorderNext generation tools for the annotation of human SNPsTRPM1 mutations are associated with the complete form of congenital stationary night blindnessChaotic analysis of the electroretinographic signal for diagnosisTRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.Interdomain movements in metabotropic glutamate receptor activation.Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.Illuminating the activation mechanisms and allosteric properties of metabotropic glutamate receptorsAmyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristicsSequence variations of GRM6 in patients with high myopia.Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohortProgress toward advanced understanding of metabotropic glutamate receptors: structure, signaling and therapeutic indicationsGroup III metabotropic glutamate receptors: pharmacology, physiology and therapeutic potential.A missense mutation in Grm6 reduces but does not eliminate mGluR6 expression or rod depolarizing bipolar cell function.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."mGlu Receptors in the Retina" - WIREs Membrane Transport and Signaling.Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses.
P2860
Q21710708-DA409256-EC17-45CB-B81C-581CDA9E2FABQ27320207-1EFC4BF4-41E7-42D3-A5F7-FA580605FB23Q28477965-518BC279-2A5C-4C97-A076-EC1EE5A1E194Q28755491-E20346FA-20C1-4CEB-8C78-1D745E555F60Q33728459-80097500-E56B-4B1F-8493-3241964FF9C3Q33820949-93265753-1275-40D7-9850-9E7756FC99E2Q35011677-AB01F9C0-15BF-47DD-B06E-BDA4A6C811B9Q35217115-1B665555-08DC-4637-880C-10B6BE8F7068Q36257781-233315EE-0356-438E-A6B3-40F287393790Q36762520-4F6282BB-EF8C-4F47-8D6C-A8E6B14C6396Q36980803-28F4541B-7CB4-410E-83EB-CA3AE3FF3EB5Q37395103-A087038D-C953-452A-AAEC-56338748AD7EQ37656373-23BBE17D-D4D3-4791-AE8C-D5219560B9FFQ38209092-BB0D70B6-D692-4B01-AFCB-FD2E7989A9BCQ38242117-BC1B8020-4591-42BD-8421-15EE7259A7A8Q38793661-9DC32034-1BDE-49B7-8F72-477B1CEA0ADAQ38880551-F1AE47F5-C2B6-4F48-A24F-A3C40A615228Q39299942-69C0DFF2-CCD6-4BBA-BFB7-5228FC1C5981Q39355958-77E3A42D-DA40-4323-BAB4-B608C4C32F36Q42636274-81842E02-A17A-438A-B80B-5FC3575495E0Q46440209-011FF12B-B616-4CEC-99FA-8BEF47ABED18
P2860
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking
description
2007 nî lūn-bûn
@nan
2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Night blindness-associated mut ...... 6 abolish protein trafficking
@ast
Night blindness-associated mut ...... 6 abolish protein trafficking
@en
Night blindness-associated mut ...... 6 abolish protein trafficking
@en-gb
Night blindness-associated mut ...... 6 abolish protein trafficking
@nl
type
label
Night blindness-associated mut ...... 6 abolish protein trafficking
@ast
Night blindness-associated mut ...... 6 abolish protein trafficking
@en
Night blindness-associated mut ...... 6 abolish protein trafficking
@en-gb
Night blindness-associated mut ...... 6 abolish protein trafficking
@nl
prefLabel
Night blindness-associated mut ...... 6 abolish protein trafficking
@ast
Night blindness-associated mut ...... 6 abolish protein trafficking
@en
Night blindness-associated mut ...... 6 abolish protein trafficking
@en-gb
Night blindness-associated mut ...... 6 abolish protein trafficking
@nl
P2093
P921
P3181
P356
P1433
P1476
Night blindness-associated mut ...... 6 abolish protein trafficking
@en
P2093
Christina Zeitz
Dorothee Leifert
John Neidhardt
Peter J Flor
Silke Feil
Stefan Kälin
Ursula Forster
Wolfgang Berger
P304
P3181
P356
10.1002/HUMU.20499
P407
P577
2007-08-01T00:00:00Z