Results 11 to 20 of about 37,333 (227)

Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families [PDF]

International Journal of Ophthalmology, 2022
AIM: To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation (p ...
Hui Cui, Xin Jin, Qing-Hua Yang, Ling-Hui Qu, Bao-Ke Hou, Zhao-Hui Li, Hou-Bin Huang   +6 more
doaj   +2 more sources

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss. [PDF]

Front Cell Dev Biol, 2021
Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome.
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E.   +21 more
europepmc   +2 more sources

Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy [PDF]

Frontiers in Cellular Neuroscience, 2023
Photoreceptors possess a highly specialized primary cilium containing expanded ciliary membrane discs called the outer segment. The photoreceptor cilium is essential for the maintenance of the outer segment, and pathogenic variants in more than 50 cilia ...
Kei Takahashi, Jennifer C. Kwok, Yu Sato, Gustavo D. Aguirre, Keiko Miyadera   +4 more
doaj   +2 more sources

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. [PDF]

Ophthalmic Genet, 2021
Purpose: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 gene Methods: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations over ...
Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW.   +7 more
europepmc   +2 more sources

Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity. [PDF]

Hum Mol Genet
Mutations in Cytosolic Carboxypeptidase-like Protein 5 (CCP5) are associated with vision loss in humans. To decipher the mechanisms behind CCP5-associated blindness, we generated a novel mouse model lacking CCP5.
Aljammal R, Saravanan T, Guan T, Rhodes S, Robichaux MA, Ramamurthy V.   +5 more
europepmc   +2 more sources

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy [PDF]

Scientific Reports, 2017
Mutations in EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however, the function of EYS and the molecular mechanisms of how these mutations cause retinal degeneration are still ...
Zhaojing Lu, Xuebin Hu, Fei Liu, Dinesh C. Soares, Xiliang Liu, Shanshan Yu, Meng Gao, Shanshan Han, Yayun Qin, Chang Li, Tao Jiang, Daji Luo, An‐Yuan Guo, Zhaohui Tang, Mugen Liu   +14 more
openalex   +2 more sources

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families. [PDF]

Int J Mol Sci, 2020
The small Ras-related GTPase Rab-28 is highly expressed in photoreceptor cells, where it possibly participates in membrane trafficking. To date, six alterations in the RAB28 gene have been associated with autosomal recessive cone-rod dystrophies ...
Iarossi G, Marino V, Maltese PE, Colombo L, D'Esposito F, Manara E, Dhuli K, Modarelli AM, Cennamo G, Magli A, Dell'Orco D, Bertelli M.   +11 more
europepmc   +2 more sources

A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review [PDF]

American Journal of Ophthalmology Case Reports
Purpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D ...
Pei-Liang Wu, Pei-Hsuan Lin, Winston Lee, Ethan Hung-Hsi Wang, Eugene Yu-Chuan Kang, Laura Liu, Nan-Kai Wang   +6 more
doaj   +2 more sources

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

J Biol Chem, 2020
Mutations in the GUCY2D gene coding for the dimeric human retinal membrane guanylyl cyclase (RetGC) isozyme RetGC1 cause various forms of blindness, ranging from rod dysfunction to rod and cone degeneration.
Peshenko IV, Olshevskaya EV, Dizhoor AM.
europepmc   +2 more sources

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. [PDF]

Invest Ophthalmol Vis Sci, 2020
Purpose Cone-rod dystrophy (CRD) is a rare hereditary eye disorder that causes progressive degeneration of cone and rod photoreceptors. More than 30 genes, including RAB28, have been associated with CRD; however, only a few RAB28 variants have been ...
Jespersgaard C, Hey AB, Ilginis T, Hjortshøj TD, Fang M, Bertelsen M, Bech N, Jensen H, Larsen LJ, Tümer Z, Rosenberg T, Brøndum-Nielsen K, Møller LB, Grønskov K.   +13 more
europepmc   +2 more sources