Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Alisdair R. Philp"'
Autor:
Karen Brøndum-Nielsen, Val C. Sheffield, Tina Duelund Hjortshøj, Thomas Rosenberg, Ruth Riise, Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura
Publikováno v:
Human Mutation. 31:429-436
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, polydactyly, obesity, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous with mutations of 14 genes, ac
Autor:
Charles N. Rotimi, Tina Duelund Hjortshøj, Darryl Y. Nishimura, Karen Grønskov, Adebowale Adeyemo, Val C. Sheffield, Thomas Rosenberg, Alisdair R. Philp, Karen Brøndum-Nielsen
Publikováno v:
American Journal of Medical Genetics. Part a
Publikováno v:
Vision Research. 48:346-352
A measure of improved vision remains the most meaningful way to demonstrate the efficacy of a therapy. Animal models allow us to describe the pathology of inherited retinal degenerations and to evaluate emerging therapies in specific disorders in way
Autor:
Alisdair R. Philp, José M. García-Fernández, Robert J. Lucas, Bobby G. Soni, James Bellingham, Russell G. Foster
Publikováno v:
Europe PubMed Central
University of Manchester-PURE
University of Manchester-PURE
A member of a new photopigment family first isolated from teleost fish, vertebrate ancient (VA) opsin, has recently been shown to form a functional photopigment and to be expressed within a subset of horizontal and amacrine cells of the inner retina.
Autor:
Edwin M. Stone, Rolf Turk, Robert F. Mullins, Jakob S. Satz, Kevin P. Campbell, Steven A. Moore, Huy A. Nguyen, Alisdair R. Philp, Hajime Kusano, Megan J Riker, Robert M. Weiss, Michael G. Anderson, Jasmine Hernandez, Jane Lee
Ocular involvement in muscular dystrophy ranges from structural defects to abnormal electroretinograms. While the mechanisms underlying the abnormal retinal physiology in patients are not understood, it is thought that α-dystroglycan extracellular i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad4712d5ef5b0509c5fed5e91265914c
https://europepmc.org/articles/PMC2965532/
https://europepmc.org/articles/PMC2965532/
Autor:
Kamal Rahmouni, Daniel R. Thedens, Roger E. Davis, Val C. Sheffield, Khristofor Agassandian, Edwin M. Stone, Baoli Yang, Charles Searby, Stewart Thompson, Martin D. Cassell, Robert F. Mullins, Darryl Y. Nishimura, Robert M. Weiss, Michael P. Andrews, Ruth E. Swiderski, Alisdair R. Philp, Christopher J. Berry
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. Of the 12 known BBS genes, BBS1 is the most commonly muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d58683af238b51acd0a680f1940a908
https://europepmc.org/articles/PMC2148305/
https://europepmc.org/articles/PMC2148305/
Autor:
Kevin L. Knudtson, Jian Huang, Edwin M. Stone, Anne M. Dorrance, Thomas L. Casavant, Ruth E. Swiderski, Gerald F. DiBona, Terry A. Braun, Val C. Sheffield, Kwang-Youn Kim, Alisdair R. Philp, Todd E. Scheetz
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 103(39)
We used expression quantitative trait locus mapping in the laboratory rat ( Rattus norvegicus ) to gain a broad perspective of gene regulation in the mammalian eye and to identify genetic variation relevant to human eye disease. Of >31,000 gene probe
Autor:
S. J. Lindauer, Edwin M. Stone, Gregory M. Acland, Alisdair R. Philp, Jeanette S. Felix, Orly Goldstein, Robert F. Mullins, Alexander S. Graphodatsky, Barbara Zangerl, Gustavo D. Aguirre, Daniel R. Ripoll, Susan E. Pearce-Kelling
Publikováno v:
Genomics. 88(5)
Progressive rod-cone degeneration (prcd) is a late-onset, autosomal recessive photoreceptor degeneration of dogs, and a homolog for some forms of human retinitis pigmentosa (RP). Previously, the disease relevant interval was reduced to a 106 Kb regio
Autor:
Periasamy, Sundaresan, Asim Kumar, Sil, Alisdair R, Philp, Mary A, Randolph, Govindappa, Natchiar, Perumalsamy, Namperumalsamy
Publikováno v:
Molecular vision. 10
Oculocutaneous albinism type 1 (OCA1) patients demonstrate a partial or total lack of melanin in the skin, hair and eye. OCA1 is an autosomal recessive genetic disorder caused by mutations in the TYR gene located at chromosome band 11q14-q25. The pur