| scholarly article | Q13442814 |
| P50 | author | José-Alain Sahel | Q3186130 |
| Ajoy Vincent | Q42844960 | ||
| Christina Zeitz | Q47502180 | ||
| Isabelle Audo | Q55712197 | ||
| Thomas Wright | Q59545017 | ||
| Elise Héon | Q87489053 | ||
| Christelle Michiels | Q125255280 | ||
| P2093 | author name string | Christian P Hamel | |
| Shuning Li | |||
| Heather MacDonald | |||
| Jason T Maynes | |||
| Erika Tavares | |||
| Anupreet Tumber | |||
| Christel Condroyer | |||
| Robert Verdet | |||
| GNB3 Consortium | |||
| P2860 | cites work | Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness | Q21710708 |
| Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness | Q24290479 | ||
| Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness | Q24301994 | ||
| GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness | Q24305072 | ||
| Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy | Q24306524 | ||
| Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans | Q24313099 | ||
| Mutations in TRPM1 are a common cause of complete congenital stationary night blindness | Q24315177 | ||
| An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness | Q24315182 | ||
| Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness | Q24315607 | ||
| Association of a human G-protein beta3 subunit variant with hypertension | Q24319177 | ||
| Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness | Q24328892 | ||
| Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 | Q24555742 | ||
| A map of human genome variation from population-scale sequencing | Q24617794 | ||
| Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus) | Q24644487 | ||
| Crystal structure of the multifunctional Gβ5–RGS9 complex | Q27649555 | ||
| Light response of retinal ON bipolar cells requires a specific splice variant of Galpha(o). | Q44037051 | ||
| Genotype and phenotype of 101 dutch patients with congenital stationary night blindness | Q44270647 | ||
| Congenital stationary night blindness with negative electroretinogram. A new classification | Q44444809 | ||
| Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens | Q44472783 | ||
| A third form of the G protein beta subunit. 1. Immunochemical identification and localization to cone photoreceptors | Q45008255 | ||
| Photopic electroretinograms of mGluR6-deficient mice | Q46795276 | ||
| ISCEV Standard for full-field clinical electroretinography (2008 update). | Q47217837 | ||
| Polymorphism in genes involved in adrenergic signaling associated with Alzheimer's. | Q47304348 | ||
| Folding of proteins with WD-repeats: comparison of six members of the WD-repeat superfamily to the G protein beta subunit | Q48058003 | ||
| Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene. | Q52511684 | ||
| ISCEV Standard for full-field clinical electroretinography (2015 update). | Q53079705 | ||
| Inner retinal contributions to the primate photopic fast flicker electroretinogram | Q71072050 | ||
| Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave | Q72076802 | ||
| A proximal retinal component in the primate photopic ERG a-wave | Q72254168 | ||
| Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness | Q72896189 | ||
| Electroretinography in cases of night blindness | Q73553841 | ||
| Evidence for an association between a G-protein beta3-gene variant with depression and response to antidepressant treatment | Q73963302 | ||
| [Analysis of the human electroretinogram] | Q76292853 | ||
| Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease | Q77319835 | ||
| Changes in the ERG d-wave with vigabatrin treatment in a pediatric cohort | Q87375327 | ||
| Crystal structure of a G-protein beta gamma dimer at 2.1A resolution | Q27732270 | ||
| The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein | Q28142943 | ||
| G protein subunit G gamma 13 is coexpressed with G alpha o, G beta 3, and G beta 4 in retinal ON bipolar cells | Q28216174 | ||
| Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness | Q28240114 | ||
| The ancient regulatory-protein family of WD-repeat proteins | Q28248516 | ||
| A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13 | Q28285452 | ||
| Genetic diseases associated with heterotrimeric G proteins | Q28306180 | ||
| TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade | Q28513267 | ||
| TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells | Q28591911 | ||
| Geneious Basic: an integrated and extendable desktop software platform for the organization and analysis of sequence data | Q29547401 | ||
| The Phyre2 web portal for protein modeling, prediction and analysis | Q29616136 | ||
| The light response of ON bipolar neurons requires G[alpha]o. | Q33928816 | ||
| The pattern of expression of guanine nucleotide-binding protein beta3 in the retina is conserved across vertebrate species. | Q34036860 | ||
| Coordinated control of sensitivity by two splice variants of Gα(o) in retinal ON bipolar cells | Q34161467 | ||
| A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness | Q34169360 | ||
| Identification of specific transducin alpha subunits in retinal rod and cone photoreceptors | Q34182511 | ||
| Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness | Q34318093 | ||
| G protein beta gamma subunits. | Q34424307 | ||
| Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms | Q34443103 | ||
| TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness | Q35011677 | ||
| GNAT1 associated with autosomal recessive congenital stationary night blindness | Q35921448 | ||
| Gβ3 is required for normal light ON responses and synaptic maintenance | Q36338293 | ||
| Molecular cloning and characterization of the G protein gamma subunit of cone photoreceptors | Q36700736 | ||
| Mouse model implicates GNB3 duplication in a childhood obesity syndrome | Q37172992 | ||
| Retinal rods and cones have distinct G protein beta and gamma subunits | Q37300037 | ||
| Cones respond to light in the absence of transducin β subunit. | Q37399987 | ||
| Evolution of vertebrate rod and cone phototransduction genes | Q37589956 | ||
| TRPM1: a vertebrate TRP channel responsible for retinal ON bipolar function. | Q37789499 | ||
| Retinal bipolar cells: elementary building blocks of vision | Q38243400 | ||
| Properties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells | Q38537938 | ||
| Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness | Q39299942 | ||
| Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals. | Q39517168 | ||
| Beta wave of the scotopic (rod) electroretinogram as a measure of the activity of human on-bipolar cells | Q40984973 | ||
| TRPM1: the endpoint of the mGluR6 signal transduction cascade in retinal ON-bipolar cells | Q41763095 | ||
| A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells. | Q42275267 | ||
| OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium | Q42686991 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | congenital disorder | Q727096 |
| congenital stationary night blindness | Q18553290 | ||
| P304 | page(s) | 1011-1019 | |
| P577 | publication date | 2016-04-06 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness | |
| P478 | volume | 98 |
| Q60958172 | A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient |
| Q57093404 | An epigenetic mechanism for cavefish eye degeneration |
| Q37230697 | GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. |
| Q57277952 | Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error |
| Q91928718 | Identification of potential molecular targets associated with proliferative diabetic retinopathy |
| Q47701145 | Insight into the molecular genetics of myopia |
| Q38781808 | Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness. |
| Q90498622 | Molecular mechanisms underlying selective synapse formation of vertebrate retinal photoreceptor cells |
| Q47590176 | Noncoding Variants Functional Prioritization Methods Based on Predicted Regulatory Factor Binding Sites |
| Q37714200 | Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family |
| Q91809881 | The Emerging Role of Gβ Subunits in Human Genetic Diseases |
| Q39408739 | The chick eye in vision research: An excellent model for the study of ocular disease. |
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