Your search matched a total of 74 documents. Results 1 - 10.
Homo sapiens
Gene: ... Disease relevance of RPE65 Our results suggest that retinal degeneration in these individuals is due to apparently complete paternal isodisomy involving reduction to homoallelism for RPE65 or MERTK loss- of- function alleles. Mutations in RPE65 cause Leber' s congenital amaurosis. Early- onset severe... / Synonyms: mRPE65; sRPE65; All-trans-retinyl-palmitate hydrolase
Rattus norvegicus
Gene: ... Disease relevance of Rpe65 PURPOSE: To investigate the pathogenic potential and sites of retinal pigment epithelium- specific 65- kDa protein( RPE65) for inducing experimental autoimmune uveitis( EAU) in Lewis rats.... / Synonyms: All-trans-retinyl-palmitate hydrolase
Canis lupus familiaris
Gene: ... Disease relevance of RPE65 CONCLUSIONS: The informative SNPs provide evidence allowing indirect exclusion of mutations in the RPE65 gene as causing retinal degeneration in 25 of the 26 dog breeds investigated with presumed autosomal recessively transmitted gPRA. METHODS: Normal RPE65 dog cDNA was subcloned...
Bos taurus
Gene: ... ]- all- trans- retinol chloroacetate 1 in the low micromolar range led to the specific labeling of RPE65... for the protein. In the present work, we show that purified RPE65 binds all- trans- retinyl palmitate( tRP) with a K( D)= 20 pM. Lack of effect of RPE65 removal on the enzymatic processing of all- trans- retinol...
Mus musculus
Gene: ... all- trans- retinyl esters from phospholipid membranes. Assays of isomerase activity reveal that Rpe65...Disease relevance of Rpe65 In Rpe65 knockout mice, photoreceptors show a drastically reduced light.... Mutations in Rpe65 disrupt synthesis of the opsin chromophore ligand 11- cis- retinal and cause Leber... / Synonyms: All-trans-retinyl-palmitate hydrolase
MeSH term: ... of Models, Animal A naturally occurring animal model, the RPE65 -/- dog, suffers from early and severe...
Chemical compound: ... . Mutation of RPE65 can cause severe blindness from birth or early childhood, and RPE65 protein is associated.... In contrast to other genes whose defects have been implicated in degenerative retinopathies, RPE65... / Synonyms: all-trans-Retinol
MeSH term: ... . Mutations in the retinal pigment epithelium gene encoding RPE65 are a cause of the incurable early- onset...' s syndrome. High impact information on Pigment Epithelium of Eye Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium. Mutations in the gene encoding RPE65, a protein vital for regeneration...
MeSH term: ... in young children with RPE65 mutations. Chemical compound and disease context of Retinitis Pigmentosa..., pigmentary retinopathy and/ or cataracts, and sensorineural hearing loss. Interestingly, all patients...
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Steven Johnsen and Donald R. Forsdyke and Kehinde Ross and Andrew Perry and Jonathan Eisen and A. Shimabukuro-Vornhagen and Giuseppe Rotondo and Gordon Laurie and Berkley Lynch and Kung-Hao Liang and Matthias Gstaiger and Thomas Pfeiffer and Marta Ramirez and Grant MacGregor and Jingyu Li and Fedik Rahimov and M El Gizouli and Marta Ramirez Gaite and Oswaldo Ribeiro-filho and Ralf Weigel and Bjoern Hamberger and Alexander Kanitz and Andreas Zankl and Chunming Ding and Maruf Yunus and Jonathan S. Berg and Michael Cariaso and Zakir Thomas and Monique Timberlake-Brady and LC Dore and Nan Shen and R. Eric Collins and Kuang-Mao Chiang and Brendan McMahon and John Chew and Wen-Ming Yang and Robert Hoffmann and J.B. Stewart and Manuela Cucerea and Ignacio García and William James and Thomas Kelder and Gregory Melahn and YINGDE ZHU and Andres Muro and Gabriel Santpere and Jeff Freilich and Junbin Qian and Steffen Poulsen and Eric Villard and Rafael Sidi and Grant Cramer and Chris Sander and Alexandre Chigaev and Florian Uhle and Carl Fulp and Andrew Brown and Xiaozhu Zhou and Corina Dutu and Hilary Spencer and david germano and Abbas Dehghan and Eung-ju PARK and Chris Sander and Albert Vilella and Miao Tian and Anjali Bheda and Michael Nevels and Jun Liu and D Delano and Chitose Taya and Soomi Cheong and David Kavanagh and Maha Karnoub and Hilmar Lapp and Christian Pallasch and Daniel Mietchen and Biju Balakrishnan and Keith Ashman and Juan Carlos Sobrino and Anshu Bhardwaj and Grzegorz Wickiel and Matthew Day and Anthony Sebastian and Vedran Katavic and Liang Long and Barry Wanner and Sarah Snelling and Fernando Montanes and Omobosede Fashedemi and Gustavo Cervantes and Manoj Kumar and Edward D Great and Paul Paukstelis and Roy Soetikno and Ana I Caño-Delgado and Minsoo Choi and Lei Wang and Brenda Riley and A Michelle Moon and Jon Moulton and Mahmoud Elshahawy and Meagan Gillespie and Banundari Rachmawati and Qian Han and Eric Danner and Xavier Fouillet and Madhusudhan Acharya and Brian Young and Chandra Sekhar Mukhopadhyay and shrawan bhattacharjee and Marieke van der Linden and cj hoban and Sandi Pniauskas and jackie gao and Metin Bilgin and Gillian L. Dalgliesh and Karl Wotton and Iveta Herichova and Yuji Morita and Marta Hernandez and Gregor Krings and Marco Briones and Tim D. Smith and Yiumo Michael Chan and Zhenyu Guo and Barry Barclay and Hong Wang and tarali chowdhury and Tilman Brummer and Nuno Faria and Tamir Ben David and Myles Axton and Yannick Fonseca and Francis Castets and Modesto Redrejo-Rodríguez and Bruce Herron and Toshio Fujita and Elena Puccetti and Zhang Zhang and John Osborne and Illes J Farkas and Fernando Andres and Phyllis Pugh and Jonathan Court and Tim Vickers and Nir Friedman and Holger Dick and Ya-Chen Liang and Jonathan Froehlich and Haitham Sobhy and David Abraham and Stephane Krief and Yaroslav Nikolaev and Qiping Feng and d gupta and R Thapar and Susan Wee and Michael Rehman and SOUMITRA GHOSH and Mohamed Eweida and Cedric Uytingco and Nie hongchuan and David Steenblock and Mark A. Kukucka and Zoli Fekete and Sergei Kozlov and Javier Jara and Osama Naguib and Felix Benninger and jean-marc lo-guidice and VASUDEVA BHAT and Anne O. Summers and Bjoern Titz and Anna Levine and Klas Udekwu and Robert Hoffmann
