Results 91 to 100 of about 19,769 (229)

Evaluating Descriptive Metrics of the Human Cone Mosaic [PDF]

, 2016
Purpose: To evaluate how metrics used to describe the cone mosaic change in response to simulated photoreceptor undersampling (i.e., cell loss or misidentification).
Carroll, Joseph, Cooper, Robert F., Tarima, Sergey, Wilk, Melissa A.   +3 more
core   +2 more sources

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review. [PDF]

, 2015
The horizon scanning review aimed to identify new and emerging technologies in development that have the potential to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases (IRDs).
Michaelides, M, Moore, AT, Simpson, S, Smith, J, Ward, D   +4 more
core  

Comprehensive 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 more
core   +5 more sources

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants

Molecular Genetics & Genomic Medicine, 2020
Background Mutations in the human crumbs homologue 1 (CRB1) gene are associated with a spectrum of inherited retinal diseases. However, functional studies demonstrating the impact of individual CRB1 mutations on gene expression are lacking for most ...
Xiao Zhang, Jennifer A. Thompson, Dan Zhang, Jason Charng, Sukanya Arunachalam, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Luke Jennings, Samuel McLenachan, Fred K. Chen   +10 more
doaj   +1 more source

iPS Cells for Modelling and Treatment of Retinal Diseases [PDF]

, 2014
For many decades, we have relied on immortalised retinal cell lines, histology of enucleated human eyes, animal models, clinical observation, genetic studies and human clinical trials to learn more about the pathogenesis of retinal diseases and explore ...
Chen, Fred K., Coffey, Peter J., Da Cruz, Lyndon, Edel, Michael John, Mackey, David A., McLenachan, Samuel   +5 more
core   +3 more sources

Stargadt’s disease in two Nigerian siblings

International Medical Case Reports Journal, 2013
Tunji S Oluleye, Akinsola Sunday Aina, Tarela Frederick Sarimiye, Segun Isaac Olaniyan Retinal and Vitreous Unit, University College Hospital, Ibadan, Nigeria Abstract: Stargardt’s disease is an inherited macular dystrophy that is transmitted in an
Oluleye TS, Aina AS, Sarimiye TF, Olaniyan SI   +3 more
doaj  

Management of inherited outer retinal dystrophies: present and future [PDF]

British Journal of Ophthalmology, 1999
The inherited outer retinal dystrophies comprise a large number of disorders characterised by a slow and progressive retinal degeneration. They have been arbitrarily divided into macular dystrophies, retinitis pigmentosa (RP), and cone/rod dystrophies on the basis of their phenotype.
N H, Chong, A C, Bird
openaire   +2 more sources

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

Pediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith, Eric Sanfilippo, Lara Wine Lee   +2 more
wiley   +1 more source