Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Autor: Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov, Gabriele Richard, Shahid Y Khan, Kari Branham, Bonnie Huang, John Suk, Benjamin Bakall, Jeffrey L Goldberg, Luis Gabriel, Naheed W Khan, Pongali B Raghavendra, Jason Zhou, Sindhu Devalaraja, Andrew Huynh, Akhila Alapati, Qais Zawaydeh, Richard G Weleber, John R Heckenlively, J Fielding Hejtmancik, Sheikh Riazuddin, Paul A Sieving, S Amer Riazuddin, Kelly A Frazer, Radha Ayyagari

Publikováno v: PLoS Genetics, Vol 17, Iss 10, p e1009848 (2021)

Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied populations: Mexico and Pakistan as well as a third well-studied population of European Americans to define the genetic architecture of IRD by performing whole-ge

Externí odkaz: https://doaj.org/article/100510e296874924a61b4222d50d1e2c

Principles and Practice of Clinical Electrophysiology of Vision

Autor: John R. Heckenlively, Geoffrey B. Arden

The long-awaited second edition of an authoritative reference on electrophysiologic vision testing, including detailed information on techniques and problems, basic physiology and anatomy, theoretical concepts, and clinical findings; with extensive n

Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration

Autor: Verity F. Oliver, Maria Franchina, Andrew E. Jaffe, Kari E. Branham, Mohammad Othman, John R. Heckenlively, Anand Swaroop, Betsy Campochiaro, Brendan J. Vote, Jamie E. Craig, Richard Saffery, David A. Mackey, Jiang Qian, Donald J. Zack, Alex W. Hewitt, Shannath L. Merbs

Publikováno v: Cell Reports, Vol 5, Iss 6, Pp 1527-1535 (2013)

Age-related macular degeneration (AMD) is a leading cause of visual impairment worldwide. Aberrant DNA methylation within the promoter of IL17RC in peripheral blood mononuclear cells has recently been reported in AMD. To validate this association, we

Externí odkaz: https://doaj.org/article/9916b486bd074600aac81861f8b924b1

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Autor: Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Català‐Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Jones, Herbert Jägle, Andreas R. Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell‐Sampol, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy J. L. de Ravel, Charlotte M. Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E. Cumhur Sener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsanyi, Richard G. Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl

Publikováno v: HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cafbc43970561d8125d8a63b8e563d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318

Immune Cell Infiltration into the Eye Is Controlled by IL-10 in Recoverin-Induced Autoimmune Retinopathy

Autor: Enayat Nikoopour, Cheng-mao Lin, John R. Heckenlively, Steven K. Lundy, Sarah Sheskey

Publikováno v: The Journal of Immunology. 202:1057-1068

Autoimmune retinopathy (AIR) is a treatable condition that manifests in acute and progressive vision loss in patients. It has recently been determined that AIR is associated with an imbalance of TH1 versus regulatory T cell immunity toward the retina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba654cec4b2c26e77995c38f0a81f01
https://doi.org/10.4049/jimmunol.1800574