Results 101 to 110 of about 264,225 (169)

The metal ion binding protein Cnnm4 is mutated in rod-cone dystrophy/amelogenesis imperfecta syndrome

, 2009
Purpose:To identify the gene causing rod-cone dystrophy/amelogenesis imperfecta Methods:Homozygosity mapping was performed using the Affymetrix 50K XbaI array in one family and candidate genes in the linked interval were sequenced with ABI Dye ...
Polok, B., Mégarbane, A., Favez, T., Hamel, C., Ambresin, A., Munier, F.L., Voirol, N., Escher, Pascal, Bolay, S., Schorderet, D.F.   +9 more
core  

Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies

iScience
Summary: Rod-cone dystrophy (RCD) comprises genetic conditions where rod photoreceptor degeneration leads to cone loss, causing progressive vision loss.
Cardillia-Joe Simon, Hanen Khabou, Antoine Chaffiol, Marco Rucli, Marion Finzi, Nat Norberg, Anaïs Grimaud, Brix Mücher, Mélissa Desrosiers, Serge Sancho, Vera Lucia Bonilha, Kate Grieve, Jens Duebel, Michel Paques, Serge Picaud, José Alain Sahel, Isabelle Audo, Stefan Herlitze, Deniz Dalkara   +18 more
doaj   +1 more source

An early onset cone dystrophy due to CEP290 mutation: a case report. [PDF]

Doc Ophthalmol, 2023
Binder A, Kohl S, Grasshoff U, Schäferhoff K, Stingl K.   +4 more
europepmc   +1 more source

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population

Scientific Reports
The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*
Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M. Nishiguchi, Hiroaki Ushida   +11 more
doaj   +1 more source

Analysis of rod-cone dystrophy genes reveals unique mutational patterns. [PDF]

BMJ Open Sci, 2022
Jaffal L, Ibrahim M, El Shamieh S.
europepmc   +1 more source

The research output of rod-cone dystrophy genetics. [PDF]

Orphanet J Rare Dis, 2022
Jaffal L, Mrad Z, Ibrahim M, Salami A, Audo I, Zeitz C, El Shamieh S.   +6 more
europepmc   +1 more source

Increased H3K27 trimethylation contributes to cone survival in a mouse model of cone dystrophy. [PDF]

Cell Mol Life Sci, 2022
Miller AL, Fuller-Carter PI, Masarini K, Samardzija M, Carter KW, Rashwan R, Lim XR, Brunet AA, Chopra A, Ram R, Grimm C, Ueffing M, Carvalho LS, Trifunović D.   +13 more
europepmc   +1 more source

A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY. [PDF]

Retina, 2021
Meunier I, Bocquet B, Charif M, Dhaenens CM, Manes G, Amati-Bonneau P, Roubertie A, Zanlonghi X, Lenaers G.   +8 more
europepmc   +1 more source

Novel clinical presentation of a CRX rod-cone dystrophy. [PDF]

BMJ Case Rep, 2021
Gonzalez-Gonzalez LA, Scanga H, Traboulsi E, Nischal KK.   +3 more
europepmc   +1 more source

Gene therapy rescues cone function in an all-cone retina mouse model with the most common cone opsin C203R missense mutation.

PLoS ONE
Blue cone monochromacy (BCM) is an X-linked cone dystrophy characterized by loss of long- (L) and medium-wavelength (M) cone function. A common cause is the C203R missense mutation, which occurs in both OPN1LW and OPN1MW, or in hybrid OPN1LW/OPN1MW opsin
Marion E Cahill, Kathryn Chmelik, Brooke A Brothers, Madyson E Ashcraft, Tongju Guan, Artjola Puja, Yinxiao Xiang, Lee M Shaw, Jianhai Du, Wen-Tao Deng   +9 more
doaj   +1 more source