Results 91 to 100 of about 429,850 (164)

Rod and cone pathway signaling and interaction under\ud mesopic illumination [PDF]

, 2013
This study investigates the time-course and post-receptoral pathway signaling of photoreceptor interactions when the rod (R) and three cone (L, M, S) photoreceptor classes contribute to mesopic vision.
Zele, Andrew J., Maynard, Michelle L., Feigl, Beatrix   +2 more
core   +1 more source

Immuno-histochemical analysis of rod and cone reaction to RPE65 deficiency in the inferior and superior canine retina.

PLoS ONE, 2014
Mutations in the RPE65 gene are associated with autosomal recessive early onset severe retinal dystrophy. Morphological and functional studies indicate early and dramatic loss of rod photoreceptors and early loss of S-cone function, while L and M cones ...
Daniela Klein, Alexandra Mendes-Madeira, Patrice Schlegel, Fabienne Rolling, Birgit Lorenz, Silke Haverkamp, Knut Stieger   +6 more
doaj   +1 more source

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy.

, 2014
International audienceFor the development of new therapies, proof-of-concept studies in large animal models that share clinical features with their human counterparts represent a pivotal step.
Lhériteau, Elsa, Fabienne Rolling, Deschamps, Jack-Yves, Lemoine, Françoise, Lyse Libeau, El-Amraoui, Aziz, Achille François, Françoise Lemoine, Elsa Lhériteau, Guihal, Caroline, Alexandra Mendes-Madeira, Rolling, Fabienne, Guyon, Richard, Jack-Yves Deschamps, Mendes-Madeira, Alexandra, Samantha Papal, Guylène Le Meur, François, Achille, Philippe Moullier, Marie-Anne Colle, Libeau, Lyse, Caroline Guihal, Provost, Nathalie, Moullier, Philippe, Petit, Lolita, Weber, Michel, Papal, Samantha, Michel Weber, Aziz El-Amraoui, Colle, Marie-Anne, Le Meur, Guylène, Richard Guyon, Nathalie Provost, Lolita Petit   +33 more
core   +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

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. [PDF]

Doc Ophthalmol, 2023
Scopelliti AJ, Jamieson RV, Barnes EH, Nash B, Rajagopalan S, Cornish EL, Grigg JR.   +6 more
europepmc   +1 more source

Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series

Case Reports in Ophthalmology
Introduction: X-linked inherited retinal dystrophies (IRDs) lead to progressive vision loss in affected males and include choroideremia (CHM), X-linked retinitis pigmentosa (XLRP), and X-linked cone-rod dystrophy (XLCORD).
Adrienne Delaney, Kari E. Branham, K. Thiran Jayasundera, Naheed W. Khan, Abigail T. Fahim   +4 more
doaj   +1 more source

Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitf^mi/+ Mice. [PDF]

Genes (Basel), 2023
García-Llorca A, Ólafsson KH, Sigurdsson AT, Eysteinsson T.   +3 more
europepmc   +1 more source

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

, 2008
There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy ...
Hall, Christine, Sérgio B. Sousa, Christine Hall, Hennekam, Raoul C. M., Raoul C.M. Hennekam, Sousa, Sérgio B., Hall, Bryan D., Russell-Eggitt, Isabelle, Isabelle Russell‐Eggitt, Bryan D. Hall   +9 more
core   +1 more source

Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma. [PDF]

Front Med (Lausanne), 2023
Yang S, Li Y, Yang L, Guo Q, You Y, Lei B.   +5 more
europepmc   +1 more source

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core