Results 101 to 110 of about 429,850 (164)

Development of an AAV-CRISPR-Cas9-based treatment for dominant cone-rod dystrophy 6. [PDF]

Mol Ther Methods Clin Dev, 2023
Mellen RW, Calabro KR, McCullough KT, Crosson SM, Cova A, Fajardo D, Xu E, Boye SL, Boye SE.   +8 more
europepmc   +1 more source

Supplementary Material for: GNB1-related rod-cone dystrophy: a case report

Introduction: The GNB1 (guanine nucleotide-binding protein, 1) gene encodes for the ubiquitous 1 subunit of heterotrimeric G proteins which are associated with G-protein-coupled receptors (GPCRs).
Kaminska K. (18008113), Rivolta C. (15344866), Tran H.V. (17709897), Quinodoz M. (15344860), Vaclavik V. (17709891), Conti G.M. (17709888), Cancellieri F. (17462394)   +6 more
core   +1 more source

Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance. [PDF]

Front Genet, 2023
Li Z, Cheng W, Zi F, Wang J, Huang X, Sheng X, Rong W.   +6 more
europepmc   +1 more source

Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy. [PDF]

Doc Ophthalmol, 2023
Soucy M, Kolesnikova M, Kim AH, Tsang SH.   +3 more
europepmc   +1 more source

CDHR1-Related Cone-Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results-A Case Report. [PDF]

Medicina (Kaunas), 2023
Sobolewska M, Świerczyńska M, Dorecka M, Wyględowska-Promieńska D, Krawczyński MR, Mrukwa-Kominek E.   +5 more
europepmc   +1 more source

Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene

Stem Cell Research
Pathogenic variants in the KCNV2 gene can cause a rare retinal dystrophy that can be inherited recessively, known as cone dystrophy with supernormal rod response (CDSRR).
Almaqdad Alsalloum, Kristina Shefer, Pavel Bogdanov, Natalia Mingaleva, Alexander Kim, Sofya Feoktistova, Olga Mityaeva, Pavel Volchkov   +7 more
doaj   +1 more source

Shwachman-Diamond syndrome associated with rod-cone dystrophy

PURPOSE: To report a patient with Shwachman-Diamond syndrome and concomitant rod-cone dystrophy who underwent bone marrow transplantation. METHODS: Retrospective single case report.
de Guimaraes, Thales AC, Thompson, Dorothy, Zhang, Jingwen, Michaelides, Michel   +3 more
core   +1 more source

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy. [PDF]

Sci Rep, 2022
Falsini B, Placidi G, De Siena E, Chiurazzi P, Minnella AM, Savastano MC, Ziccardi L, Parisi V, Iarossi G, Percio M, Piteková B, Marceddu G, Maltese PE, Bertelli M.   +13 more
europepmc   +1 more source

Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci. [PDF]

Hum Mol Genet, 2023
Ripolles-Garcia A, Murgiano L, Ziolkowska N, Marinho FP, Roszak K, Iffrig S, Aguirre GD, Miyadera K.   +7 more
europepmc   +1 more source

Depleted Calcium Stores and Increased Calcium Entry in Rod Photoreceptors of the Cacna2d4 Mouse Model of Cone-Rod Dystrophy RCD4. [PDF]

Int J Mol Sci, 2022
Vellani V, Mauro G, Demontis GC.
europepmc   +1 more source