Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Caraline L. Coats"'
Autor:
Gerald A. Fishman, Donald J. Zack, Prabodha K. Swain, Qing Liang Wang, Kevin D. Brady, Edwin M. Stone, Anand Swaroop, Shiming Chen, Paul A. Sieving, Louisa M. Affatigato, Caraline L. Coats, Samuel G. Jacobson
Publikováno v:
Neuron. 19(6):1329-1336
Crx is a novel paired-like homeodomain protein that is expressed predominantly in retinal photoreceptors and pinealocytes. Its gene has been mapped to chromosome 19q13.3, the site of a disease locus for autosomal dominant cone-rod dystrophy (CORDII).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad8f21ef5908599da9096b5cc54967f9
Autor:
Joost Felius, Paul A. Sieving, Yumiko Toda, Janet J. Szczesny, Caraline L. Coats, Radha Ayyagari, Laura E. Kakuk, Eve L. Bingham
Publikováno v:
Retinal Degenerative Diseases and Experimental Therapy ISBN: 9780306461934
Blue cone monochromacy (BCM) is an X-linked ocular disorder in which affected males have normal short-wavelength-sensitive (blue) cone and rod function but lack medium-(green) and long-wavelength-sensitive (red) cone function. Affected males characte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cad6a2cf14f76374202a16235fc571b8
https://doi.org/10.1007/978-0-585-33172-0_22
https://doi.org/10.1007/978-0-585-33172-0_22
Autor:
Qing Liang Wang, Donald J. Zack, Shiming Chen, Paul A. Sieving, Weiping Wu, Siqun Xu, Anand Swaroop, Jason Cook, Caraline L. Coats
Publikováno v:
Human molecular genetics. 8(2)
The CRX (cone-rod homeobox) gene is specifically expressed in developing and mature photoreceptors and encodes an otd/Otx-like paired homeodomain protein. Mutant alleles of the CRX gene have recently been associated with autosomal dominant cone-rod d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5c951c3421770aec998b94c4f0afab
https://pubmed.ncbi.nlm.nih.gov/9931337
https://pubmed.ncbi.nlm.nih.gov/9931337
Autor:
Caraline L. Coats, André Hanauer, Ulrich Kellner, E.J.M. Schuurman, Niklas Dahl, Beate Niesler, N. Tijmes, Susannah M. Walpole, Ute Schulz, Anne Rantala, S.A. Gaythor, A.M. Bardelli, Eugenio Montini, G.J.B. van Ommen, Christina L. McHenry, C. Oudet, A. Blankenagel, J.E. Richards, H.G. Brunner, Andrea Ballabio, E. van de Vosse, P.T.V.M. de Jong, J.T. Dendunnen, Carmen Ayuso, E.L. Bingham, L Huopaniemi, Gudrun A. Rappold, K. Ruether, Thomas Rosenberg, Vera M. Kalscheuer, V. Ventruto, Paul A. Sieving, Arthur A.B. Bergen, Hanno J. Bolz, Ulrike Orth, T. Kraayenbrink, D. Pimenides, M.J. van Schooneveld, Andreas Gal, Alan F. Wright, N.D.L. George, Grazia Andolfi, F.J. Diaz, Brunella Franco, H.H. Ropers, Silke Feil, John R.W. Yates, Wolfgang Berger, Tiina Alitalo, Alfred J. L. G. Pinckers, A. dela Chapelle, U.T. Moore, J. Kaplan, Dorothy Trump, Steffen Lenzner, Pierre Bitoun, A. Nicolaou, K.T. Hiriyana, Hemant Pawar, T. Darga, J.B. ten Brink
Publikováno v:
Human molecular genetics, 7(7), 1185-1192. Oxford University Press
Human Molecular Genetics, 7(7), 1185-1192. Oxford University Press
Human Molecular Genetics, 7(7), 1185-1192. Oxford University Press
X-linked retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males, resulting in vision loss early in life. The gene involved in XLRS was identified recently. It encodes a protein with a disoidin domain, suggested to be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f0fd99a148b526ec431d89cab82bed
https://pure.amc.nl/en/publications/functional-implications-of-the-spectrum-of-mutations-found-in-234-cases-with-xlinked-juvenile-retinoschisis-xlrs(1e0da310-81f1-413d-914c-b73a21b1a089).html
https://pure.amc.nl/en/publications/functional-implications-of-the-spectrum-of-mutations-found-in-234-cases-with-xlinked-juvenile-retinoschisis-xlrs(1e0da310-81f1-413d-914c-b73a21b1a089).html