GUCY2D Antibody

1. As other genotypes were identified, there were attempts to divide the genotypes by phenotype: GUCY2D-LCA was considered a cone-rod dystrophy, whereas other genotypes were designated as rod-cone dystrophies PMID: 28212877
2. Sequencing of GUCY2D identified a novel missense mutation (c.2129C:T; p.Ala710Val) resulting in substitution of alanine by valine at position 710 changes the conformation of the regulatory segment within the kinase styk-domain of GC1 and causes loss of its helical structure, likely inhibiting phosphorylation of threonine residue within this segment, which is needed to activate the catalytic domain of the protein. PMID: 27475985
3. These results identify dissociable effects of blindness upon the visual pathway. Further, the relatively intact postgeniculate white matter pathway in GUCY2D-LCA is encouraging for the prospect of recovery of visual function with gene augmentation therapy. PMID: 28403437
4. Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies. PMID: 26957854
5. Data suggest that GCAP1 (guanylate cyclase activator 1A; Mg2+ vs. Ca2+) exhibits conformational changes in Ca2+ switch helix that are important in activation of RetGC1; myristoylation of GCAP1 is important as well in attaining activator conformation. PMID: 26703466
6. Gc1s/Gc1s phenotype variant of DBP and the unbound fraction of plasma RBP4 may be considered as factors related with the incidence, and possibly the risk, of IR in CHC patients. PMID: 26962819
7. Guanylate cyclase signaling pathway is down regulated in the pathogenesis of inflammatory bowel diseases. PMID: 25979109
8. Studies indicate that mutations in retinal guanylate cylase-1 (GUCY2D) are associated with a leading cause of recessive Leber congenital amaurosis (LCA1). PMID: 26427419
9. The GUCY2D mutations were frequent in Chinese families with autosomal dominant cone or cone-rod dystrophies. All mutations were found in exon 13. PMID: 26298565
10. Cardiac fibrosis and the endogenous natriuretic peptide system were evaluated in end-stage heart failure to assess the anti-fibrotic actions of the dual GC-A/-B activator. PMID: 25117468
11. A deletion mutation in the GUCY2D gene is associated with Leber congenital amaurosis in a consanguineous Pakistani family. PMID: 25189253
12. GUCY2D is a major cause of autosomal dominant cone and cone-rod dystrophies in Israel PMID: 25515582
13. Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations. PMID: 24997176
14. Screening of the GUCY2D gene revealed the mutation p.R838H in all the affected individuals with autosomal dominant cone dystrophy and was absent in the asymptomatic patients. PMID: 24480840
15. A missense mutation in the GUCY2D gene caused ADCRD in this family. Clinical follow-up of this family with a typical CRD phenotype revealed disease progression during the time period. PMID: 23686677
16. Data suggest that dimerization domain of GUCY2D operates as a calcium-sensitive regulatory module; GUCY2D requires correct conformation of monomer-monomer interface for interaction with guanylate cyclase activating proteins (GCAP1; GCAP2). PMID: 23815670
17. A novel missense mutation of the GUCY2D gene was identified in this study. PMID: 23734073
18. postulate a relationship between the level of RetGC1 activity and the degree of cone vision abnormality, and argue for cone function being the efficacy outcome in clinical trials of gene augmentation therapy in LCA1 PMID: 23035049
19. Expression of mutant human RETGC-1 leads to a retinal phenotype that includes aberrant photoreceptor morphology and a reduced number of photoreceptors. PMID: 23328348
20. This is the first report of a GUCY2D mutation causing central areolar choroidal dystrophy and adds to our understanding of genotype-phenotype correlation in this heterogeneous group of choroidoretinal dystrophies. PMID: 22695961
21. A recurrent heterozygous (p.Arg838His) mutation in GUCY2D is associated with autosomal dominant cone dystrophy in a Chinese family. PMID: 22194653
22. Following subretinal delivery of a vector containing GUCY2D in Gucy2e(-/-) mice, GC1 protein was detected in the rod and cone outer segments, transducin was appropriately localized to cone outer segments, and an improvement in visual behavior. PMID: 21671801
23. Two macular dystrophy-associated disease mutations at codon 838 of the GUCY2D gene were found among the 22 unrelated Spanish families, one of which had not been previously described (p.R838P). This novel mutation exhibited phenotypic variability. PMID: 21552474
24. This study hence establishes GUCY2D, which is a common cause for both recessive Leber's congenital amaurosis and dominant cone-rod dystrophy, as a good candidate for autosomal recessive cone-rod dystrophy. PMID: 20517349
25. Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. PMID: 19959640
26. Studies show that a fold recognition based model of the catalytic domain of ROS-GC1 was built, and neurocalcin delta docking simulations were carried out to define the three-dimensional features of the interacting domains of the two molecules. PMID: 18500817
27. The coexpression of ROS-GC1 and its activators in spermatozoa suggests that the Ca(2+)-modulated ROS-GC1 transduction system may be a part of the fertilization machinery PMID: 19111294
28. clustering and frequency of mutations in patients with dominant cone-rod dystrophies PMID: 11565546
29. Some carrier parents of patients with Leber congenital amaurosis and a GUCY2D mutation develop measurable cone and possibly rod abnormalities most consistent with a mild cone-rod dysfunction. PMID: 12365911
30. Two amino acid substitution missense mutations at R838C and R838H have been identified as well as 11 new polymorphic markers. PMID: 12552567
31. Leber congenital amaurosis (LCA) caused by mutant GUCY2D had only light perception but retained substantial numbers of cones and rods in the macula and far periphery. PMID: 12623820
32. A heterozygous complex mutation of I915T and G917R in the GUCY2D gene caused autosomal dominant CORD (cone-rod dystrophy) PMID: 15111605
33. LCA (leber congenital amaurosis) is caused by the modifying effect of a heterozygous GUCY2D mutation observed against the disease background of a homozygous RPE65 mutation. PMID: 15512997
34. AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa PMID: 16272259
35. Microarray-based mutation detection allowed the identification of 32% of LCA sequence variants and represents an efficient first-pass screening tool. Mutations in CRB1, and to a lesser extent, in GUCY2D, underlie most LCA cases in this cohort PMID: 16505055
36. There is a phenotype-genotype correlation of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1 PMID: 17041576
37. Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution PMID: 17651254
38. illustrate the use of haplotype information about allele-sharing decay around a mutation as a genetic clock, using data for two GUCY2D mutations in Mediterranean populations PMID: 17684531
39. RPE65 gene mutations represented a significant cause of LCA in the Italian population, whereas GUCY2D and CEP290 mutations had a lower frequency than that found in other reports. PMID: 17724218
40. a novel mutation, P575L, was found in exon 8 of the GUCY2D gene in 12 members of a family with autosomal dominant progressive cone degeneration PMID: 18332321
41. GUCY2D is a major gene responsible for progressive autosomal dominant cone degeneration. All identified mutations localize to codon 838. PMID: 18487367

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HGNC: 4689

OMIM: 204000

KEGG: hsa:3000

STRING: 9606.ENSP00000254854

UniGene: Hs.592109