Results 101 to 110 of about 1,104 (159)

Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred. [PDF]

Eye (Lond), 2023
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.   +12 more
europepmc   +1 more source

A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

Molecular vision, 2013
To describe the clinical and genetic findings in a Chinese family with autosomal dominant cone dystrophy (adCOD).One family was examined clinically, and genomic DNA was extracted from venous blood of all participants. Genotyping and haplotyping analysis was performed on the known genetic loci for adCOD and autosomal dominant cone-rod dystrophies ...
Xin, Zhao, Yanfan, Ren, Xiaohui, Zhang, Changxi, Chen, Bing, Dong, Yang, Li   +5 more
openaire   +1 more source

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness [PDF]

, 2020
Igor V. Peshenko, Elena V. Olshevskaya, Alexander M. Dizhoor   +2 more
openalex   +1 more source

cGMP Signaling in Photoreceptor Degeneration. [PDF]

Int J Mol Sci, 2023
Li S, Ma H, Yang F, Ding X.
europepmc   +1 more source

Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs). [PDF]

Biomedicines
D'Esposito F, Capobianco M, Gagliano C, Avitabile A, Gagliano G, Esposito G, Dammino E, Carotenuto A, Zeppieri M.   +8 more
europepmc   +1 more source

Comparing Ocular Toxicity of Legacy and Alternative Per- and Polyfluoroalkyl Substances in Zebrafish Larvae. [PDF]

Toxics, 2023
Lee HS, Jang S, Eom Y, Kim KT.
europepmc   +1 more source

Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing. [PDF]

Int J Mol Sci
Zafar A, Baig RM, Arshad A, Rashid A, Oreshkov S, Frederiksen HN, Ansar M.   +6 more
europepmc   +1 more source

SARS-CoV-2 Covid-19 Infection During Pregnancy and Differential DNA Methylation in Human Cord Blood Cells From Term Neonates. [PDF]

Epigenet Insights, 2023
Urday P, Gayen Nee' Betal S, Sequeira Gomes R, Al-Kouatly HB, Solarin K, Chan JS, Li D, Rahman I, Addya S, Boelig RC, Aghai ZH.   +10 more
europepmc   +1 more source

A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report

, 2019
Ahmad Reza Salehi Chaleshtori, Masoud Garshasbi, Ali Salehi   +2 more
openalex   +1 more source

Phosphodiesterase 5 expression in photoreceptors rescues retinal degeneration induced by deregulation of membrane guanylyl cyclase. [PDF]

J Biol Chem
Dizhoor AM, Sato S, Luo Z, Tan L, Levin FE, Olshevskaya EV, Peshenko IV, Kefalov VJ.   +7 more
europepmc   +1 more source