Pages that link to "Q37712014"

The following pages link to Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. (Q37712014):

Displaying 38 items.

• The linker region in receptor guanylyl cyclases is a key regulatory module: mutational analysis of guanylyl cyclase C (Q24647874) (← links)
• Retinal dystrophies, genomic applications in diagnosis and prospects for therapy (Q26770321) (← links)
• Current progress of genetically engineered pig models for biomedical research (Q27027327) (← links)
• Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy (Q27309443) (← links)
• Localization of a Guanylyl Cyclase to Chemosensory Cilia Requires the Novel Ciliary MYND Domain Protein DAF-25 (Q27345318) (← links)
• Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats (Q33928432) (← links)
• Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. (Q34121892) (← links)
• A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis (Q34329671) (← links)
• Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel (Q34976923) (← links)
• A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family (Q35629063) (← links)
• Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation (Q36049811) (← links)
• Gucy2f zebrafish knockdown--a model for Gucy2d-related leber congenital amaurosis (Q36105179) (← links)
• Guanylate cyclase 1 relies on rhodopsin for intracellular stability and ciliary trafficking. (Q36452398) (← links)
• ASSESSING PHOTORECEPTOR STRUCTURE ASSOCIATED WITH ELLIPSOID ZONE DISRUPTIONS VISUALIZED WITH OPTICAL COHERENCE TOMOGRAPHY. (Q36830639) (← links)
• Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa (Q36881449) (← links)
• A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy (Q36890510) (← links)
• Mutations in Tyr808 reveal a potential auto-inhibitory mechanism of guanylate cyclase-B regulation (Q36904037) (← links)
• Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration (Q37164602) (← links)
• Graft versus self (GvS) against T-cell autoantigens is a mechanism of graft-host interaction (Q37473909) (← links)
• Evolution of vertebrate rod and cone phototransduction genes (Q37589956) (← links)
• Guanylate cyclases and associated activator proteins in retinal disease (Q37639201) (← links)
• Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies (Q37724771) (← links)
• Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy (Q38336669) (← links)
• Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies (Q41873980) (← links)
• Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations (Q41979791) (← links)
• Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations (Q42291843) (← links)
• Progressive constriction of the hyperautofluorescent ring in retinitis pigmentosa (Q43708961) (← links)
• Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D. (Q45158527) (← links)
• Genetic causes of hereditary cone and cone-rod dystrophies (Q46137938) (← links)
• Role of the nucleotidyl cyclase helical domain in catalytically active dimer formation. (Q46271714) (← links)
• GUCY2D Cone-Rod Dystrophy-6 is a 'Phototransduction Disease' Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. (Q50026113) (← links)
• The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice (Q51431710) (← links)
• GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. (Q53370041) (← links)
• Photoreceptor Guanylate Cyclase () Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca-Dependent Cyclic GMP Synthesis (Q57492090) (← links)
• Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene (Q85251450) (← links)
• Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction (Q87354160) (← links)
• LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells (Q88671336) (← links)
• Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies (Q90418693) (← links)