Results 61 to 70 of about 2,008 (179)
Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. [PDF]
PLoS ONE, 2010 Recessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d encodes guanylate cyclase (GC1) is expressed in photoreceptor outer segment membranes and produces cGMP in these cells. Shannon E Boye, Sanford L Boye, Jijing Pang, Renee Ryals, Drew Everhart, Yumiko Umino, Andy W Neeley, Joseph Besharse, Robert Barlow, William W Hauswirth +9 moredoaj +1 more sourceGUCY2D Gene Loss-of-Function Mutations Responsible for Leber Congenital Amaurosis 1 [PDF]
, 2019 Abstract Background: Leber congenital amaurosis (LCA) is a group of severe congenital neurodegenerative diseases. Variants in the guanylate cyclase 2D gene ( GUCY2D ), which encodes guanylate cyclase 1 (ROS-GC1), are associated with LCA1 and account for 6%–21% of all LCA cases.Feng Xue, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye +9 moreopenaire +2 more sourcesGUCY2D cone–rod dystrophy-6 is a “phototransduction disease” triggered by abnormal calcium feedback on retinal membrane guanylyl cyclase 1 [PDF]
, 2018 The Arg838Ser mutation in retinal membrane guanylyl cyclase 1 (RetGC1) has been linked to autosomal dominant cone-rod dystrophy type 6 (CORD6). It is believed that photoreceptor degeneration is caused by the altered sensitivity of RetGC1 to calcium ...Dizhoor, Alexander M, Kefalov, Valdimir J, Olshevskaya, Elena V, Peshenko, Igor V, Sato, Shinya +4 morecore +2 more sourcesGenetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
Scientific Reports, 2022 Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age population. We performed a retrospective epidemiological study to determine the genetic basis of IRDs in a large Italian cohort (n = 2790) followed at a single ...Marianthi Karali, Francesco Testa, Valentina Di Iorio, Annalaura Torella, Roberta Zeuli, Margherita Scarpato, Francesca Romano, Maria Elena Onore, Mariateresa Pizzo, Paolo Melillo, Raffaella Brunetti-Pierri, Ilaria Passerini, Elisabetta Pelo, Frans P. M. Cremers, Gabriella Esposito, Vincenzo Nigro, Francesca Simonelli, Sandro Banfi +17 moredoaj +1 more sourceComprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease [PDF]
, 2016 Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n Aarnoud Huissoon, Abigail Furnell, Adrian Thrasher, Alan Greenhalgh, Alasdair Parker, Alba Sanchis-Juan, Alba Sanchis-Juan, Alex Richter, Alice Gardham, Allan Lawrie, Aman Sohal, Amanda Creaser-Myers, Amy Frary, Andreas Greinacher, Andrew Mumford, Andrew Peacock, Andrew Webster, Andrew R. Webster, Angela F. Brady, Angie Brady, Ania Koziell, Ania Manson, Anita Chandra, Anke Hensiek, Anna Maw, Anne M. Kelly, Anthony Moore, Anthony T. Moore, Anton Vonk Noordegraaf, Antony Attwood, Archana Herwadkar, Arno, Auton, Ba-Abbad, Beaulieu, Belkadi, Benjamini, Berger, Braun, Bruce Furie, Carmen Treacy, Carolyn M. Millar, Carrock Sewell, Catherine Roughley, Catherine Titterton, Catherine Williamson, Charaka Hadinnapola, Charu Deshpande, Chen, Cheng, Cheng-Hock Toh, Chiang, Chiara Bacchelli, Chilamakuri, Chris Patch, Chris Van Geet, Christine Bryson, Christopher J. Penkett, Christopher J. Rhodes, Christopher Penkett, Claire Bethune, Claire Booth, Claire Lentaigne, Coleen McJannet, Colin Church, Consugar, Crina Samarghitean, Csaba Halmagyi, Daniel Gale, Daniel Greene, Daniel Hart, David Allsup, David Bennett, David Edgar, David J. Perry, David Keeling, David Kiely, Debbie Shipley, Deborah Whitehorn, Debra Fletcher, Deepa Krishnakumar, den Hollander, Desmet, Detelina Grozeva, Detelina Grozeva, Dinakantha Kumararatne, Dorothy A. Thompson, Dorothy Thompson, Dragana Josifova, Dragana Josifova, Eamonn Maher, Eisenberger, Elaine Murphy, Elaine Murphy, Eleanor Dewhurst, Eleanor Dewhurst, Elisabeth Rosser, Elisabeth Rosser, Elizabeth Chalmers, Elizabeth Drewe, Elizabeth McDermott, Ellen Thomas, Ellingford, Ellingford, Emily Staples, Emma Clement, Emma Clement, Emma Wakeling, Emma Wakeling, Eric Oksenhendler, Ernest Turro, Evan Reid, Evangeline Wassmer, F. Lucy Raymond, F. Lucy Raymond, Fengyuan Hu, Fiona Kennedy, Fitzgerald, Frances Flinter, Gary Polwarth, Gautum Ambegaonkar, Gavin Arno, Gavin Arno, Genevieve Wright, Geoffrey Woods, Gerry Coghlan, Gilissen, Grant Hayman, Gururaj Arumugakani, Hana Alachkar, Hana Lango Allen, Hans Stauss, Harald Schulze, Harm Boggard, Helen Baxendale, Helen Firth, Henderson, Hilary Longhurst, Hoischen, Huang, Hugh S. Markus, Hugh Watkins, Hull, Ilenia Simeoni, Irene Roberts, Isabella Quinti, Ivy Wanjiku, James C. Fox, James Thaventhiran, Jane Hurst, Jane Hurst, Jay Suntharalingam, Jeanette Payne, Jecko Thachil, Jennifer Martin, Jenny Carmichael, Jenny Carmichael, Jesmeen Maimaris, Joan Paterson, Joan Paterson, Joanna Pepke-Zaba, Johan W.M. Heemskerk, John Davis, John Pasi, John R. Bradley, John Wharton, John Wort, Jonathan Stephens, Jonathan Stephens, Julia Rankin, Julie Anderson, Julie Vogt, Julie von Ziegenweldt, Karola Rehnstrom, Karyn Megy, Karyn Megy, Kate Talks, Kathelijne Peerlinck, Kathleen Freson, Kathleen Stirrups, Kathleen Stirrups, Keith Gomez, Kenneth Smith, Keren Carss, Keren J. Carss, Kevin Rue-Albrecht, Khan, Kimberley Gilmour, Kircher, Larahmie Masati, Laura Southgate, Lek, Lelieveld, Liew, Lisa Devlin, Lisa Willcocks, Lorena Lorenzo, Louise Allen, Louise Allen, Louise Daugherty, Manali Chitre, Manali Chitre, Manju Kurian, Marc Humbert, Marc Tischkowitz, Maria Bitner-Glindzicz, Maria Bitner-Glindzicz, Marie Erwood, Marie Erwood, Marie Scully, Marijke Veltman, Mark Caulfield, Mark Ponsford, Mark Toshner, Marta Bleda, Martin Wilkins, Mary Mathias, Matthew Brown, Matthew Rondina, Matthias Haimel, Mayer, McRae, Melissa Lees, Michael A. Laffan, Michael Browning, Michael Gattens, Michael Richards, Michel Michaelides, Michel Michaelides, Michele P. Lambert, Minka De Vries, Moira Thomas, Muriel Holder, Naomi Clements-Brod, Natalie Canham, Natalie Dormand, Nathalie Kingston, Neeti Ghali, Nichola Cooper, Nicholas Morrell, Nigel Yeatman, Olga Shamardina, O’Sullivan, Paquita Nurden, Patel, Patrick Chinnery, Patrick Deegan, Patrick Yong, Patwardhan, Paul Calleja, Paul Gissen, Paula Bolton-Maggs, Pavandeep K. Ghataorhe, Pavel Gordins, Penelope Stein, Peter Collins, Peter Kelleher, Ping Yu, Purcell, Pusch, R. Campbell Tait, Rachel Linger, Rainer Doffinger, Rajiv Machado, Rashid Kazmi, Ravishankar Sargur, Reese, Remi Favier, Ri Liesner, Richard Antrobus, Richard H. Scott, Richard Sandford, Richard Scott, Richard Trembath, Rob Mackenzie, Robert E. MacLaren, Robert H.H. Henderson, Robert Henderson, Robert MacLaren, Roberta Rizzo, Roger James, Rohit Ghurye, Rosa DaCosta, Rosie Hague, Rutendo Mapeta, Ruth Armstrong, Ruth Armstrong, Sadia Noorani, Sai Murng, Saikat Santra, Salih Tuna, Samantha Malka, Sangermano, Sara Lear, Sarah Goddard, Sarah Hull, Sarah Mangles, Sarah Westbury, Sarju Mehta, Scott Hackett, Sergey Nejentsev, Shahin Moledina, Shahnaz Bibi, Sharon Meehan, Simon Gibbs, Simon Holden, Simon Staines, Sinisa Savic, Siobhan Burns, Sofia Grigoriadou, Sofia Papadia, Sofie Ashford, Sol Schulman, Sonia Ali, Soo-Mi Park, Sophie Davies, Sophie Stock, Sri V.V. Deevi, Stavropoulos, Stefan Gräf, Stenson, Stephen Jolles, Steve Austin, Steve Welch, Stuart Meacham, Stuart Rankin, Suranjith Seneviratne, Susan Holder, Suthesh Sivapalaratnam, Sylvia Richardson, Taco W. Kuijpers, Tadbir K. Bariana, Tamam Bakchoul, Tamara Everington, Thorvaldsdóttir, Tim Young, Timothy Aitman, Timothy Q. Warner, Tiwari, Tracey Hammerton, Turner, Vaché, Val Pollock, van den Hurk, Vera Matser, Vincent Plagnol, Virginia Clowes, Walter, Waseem Qasim, Wendy N. Erber, Westbury, Willem H. Ouwehand, Willem H. Ouwehand, William Astle, William Egner, Wojciech Turek, Wright, Yang, Yang, Yvonne Henskens, Yvonne Tan, Zarrei +361 morecore +5 more sourcesMulti-disciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies [PDF]
, 2022 PURPOSE: To identify, using genome sequencing (GS), likely pathogenic non-coding variants in inherited retinal dystrophy (IRD) genes Methods: Patients with IRD were recruited to the study and underwent comprehensive ophthalmological evaluation and GS ...Arno, Gavin, Bellingham, James, Black, Graeme, Cancellieri, Francesca, Cheetham, Michael E, Ellingford, Jamie M, Janeschitz-Kriegl, Lucas, Jurkute, Neringa, Kaminska, Karolina, Knight, Hannah, Lenassi, Eva, Mahroo, Omar A, Michaelides, Michel, Moore, Anthony T, Motta, Fabiana, Niblock, Michael, Oprych, Kathryn, Quinodoz, Mathieu, Rivolta, Carlo, Schiff, Elena, Scholl, Hendrik PN, Varela, Malena Daich, Webster, Andrew R +22 morecore +2 more sourcesInvestigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. [PDF]
PLoS ONE, 2015 PURPOSE:To define the molecular basis of retinal degeneration in consanguineous Pakistani pedigrees with early onset retinal degeneration. METHODS:A cohort of 277 individuals representing 26 pedigrees from the Punjab province of Pakistan was analyzed ...Bruno Maranhao, Pooja Biswas, Alexander D H Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S Amer Riazuddin, J Fielding Hejtmancik, Radha Ayyagari +14 moredoaj +1 more sourceLeber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies [PDF]
, 2018 PURPOSE: To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults and ...Davies, WIL, Kumaran, N, Liasis, AC, Michaelides, M, Moore, AT, Moradi, P, Robson, AG, Sheck, L, Webster, AR +8 morecore +2 more sourcesHomozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
PLoS ONE, 2015 BackgroundHomozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I den Hollander, Lonneke Haer-Wigman, Rob W J Collin, Muhammad Imran Khan, Raheel Qamar, Frans P M Cremers +20 moredoaj +1 more source
