| A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. | A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.
Scopelliti AJ, Jamieson RV, Barnes EH, Nash B, Rajagopalan S, Cornish EL, Grigg JR., Free PMC Article | 11/14/2023 |
| Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies. | Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M. | 09/27/2023 |
| Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred. | Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
Gao Y, Ren X, Lin H, Li K, Xiao L, Wang X, Zeng Z, Ran R, Tao Y, Lin Y, Fu X, Yan N, Zhang M., Free PMC Article | 08/4/2023 |
| The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. | The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Donato L, Alibrandi S, Scimone C, Rinaldi C, Dascola A, Calamuneri A, D'Angelo R, Sidoti A., Free PMC Article | 12/31/2022 |
| Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis. | Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.
Gul H, Haleem Shah A, Harripaul R, Wajid Abbasi S, Faheem M, Zubair M, Muzammal M, Khan S, B Vincent J, Ahmad Khan M. | 12/25/2021 |
| Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase. | Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
Peshenko IV, Olshevskaya EV, Dizhoor AM., Free PMC Article | 11/27/2021 |
| Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation. | Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q. | 10/2/2021 |
| Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy. | Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
Sun Z, Wu S, Zhu T, Li H, Wei X, Du H, Sui R. | 06/26/2021 |
| Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function. | Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Wu V, Swider M, Sheplock R, Krishnan AK, Garafalo AV., Free PMC Article | 04/17/2021 |
| GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness. | GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.
Peshenko IV, Olshevskaya EV, Dizhoor AM., Free PMC Article | 03/28/2021 |
| Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase. | Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase.
Peshenko IV, Dizhoor AM., Free PMC Article | 01/16/2021 |
| Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. | Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
Rashid M, Qasim M, Ishaq R, Bukhari SA, Sajid Z, Ashfaq UA, Haque A, Ahmed ZM., Free PMC Article | 11/21/2020 |
| Study in family with Leber congenital amaurosis 1 (LCA1) was recruited from China found three novel mutations (c.139delC, p.Ala49Profs*36; c.835G>A, p.Asp279Asn and c.2783G>A, p.Gly928Glu) in the GUCY2D gene. | The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.
Feng X, Wei T, Sun J, Luo Y, Huo Y, Yu P, Chen J, Wei X, Qi M, Ye Y., Free PMC Article | 07/11/2020 |
| The five patients with bull's-eye maculopathy along with a negative ERG had differing genotypes. Mutations were found in the CRX gene (2 patients), the ABCA4 gene (1 patient), and the GUCY2D gene (2 patients). | Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.
Nasser F, Kurtenbach A, Kohl S, Obermaier C, Stingl K, Zrenner E. | 08/31/2019 |
| This work is the first to demonstrate a direct physiological effect of GUCY2D cone-rod dystrophy type 6-linked mutation on photoreceptor physiology in vivo | GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1.
Sato S, Peshenko IV, Olshevskaya EV, Kefalov VJ, Dizhoor AM., Free PMC Article | 07/6/2019 |
| Autosomal recessive GUCY2D mutations may cause congenital night blindness with normal acuity and refraction, and unique electroretinography. Progression to mild retinitis pigmentosa may occur. | Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV. | 07/6/2019 |
| G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration | A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.
Peshenko IV, Cideciyan AV, Sumaroka A, Olshevskaya EV, Scholten A, Abbas S, Koch KW, Jacobson SG, Dizhoor AM., Free PMC Article | 05/25/2019 |
| 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 | Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations.
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE. | 07/22/2017 |
| 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. | Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
Gradstein L, Zolotushko J, Sergeev YV, Lavy I, Narkis G, Perez Y, Guigui S, Sharon D, Banin E, Walter E, Lifshitz T, Birk OS., Free PMC Article | 05/20/2017 |
| 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. | Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.
Aguirre GK, Butt OH, Datta R, Roman AJ, Sumaroka A, Schwartz SB, Cideciyan AV, Jacobson SG., Free PMC Article | 04/22/2017 |
| Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies. | Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
Safieh LA, Al-Otaibi HM, Lewis RA, Kozak I., Free PMC Article | 08/13/2016 |
| 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. | Structure of Guanylyl Cyclase Activator Protein 1 (GCAP1) Mutant V77E in a Ca2+-free/Mg2+-bound Activator State.
Lim S, Peshenko IV, Olshevskaya EV, Dizhoor AM, Ames JB., Free PMC Article | 08/6/2016 |
| 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. | GC Gene Polymorphism and Unbound Serum Retinol-Binding Protein 4 Are Related to the Risk of Insulin Resistance in Patients With Chronic Hepatitis C: A Prospective Cross-Sectional Study.
Mateos-Muñoz B, García-Martín E, Torrejón MJ, Devesa-Medina MJ, Esguevillas G, Cárdenas MC, Fernández C, Carballo M, Agúndez JA, Ladero JM., Free PMC Article | 07/30/2016 |
| Guanylate cyclase signaling pathway is down regulated in the pathogenesis of inflammatory bowel diseases. | The guanylate cyclase-C signaling pathway is down-regulated in inflammatory bowel disease.
Brenna Ø, Bruland T, Furnes MW, Granlund Av, Drozdov I, Emgård J, Brønstad G, Kidd M, Sandvik AK, Gustafsson BI., Free PMC Article | 05/7/2016 |
| Studies indicate that mutations in retinal guanylate cylase-1 (GUCY2D) are associated with a leading cause of recessive Leber congenital amaurosis (LCA1). | A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1).
Boye SE. | 04/23/2016 |