Results 51 to 60 of about 48,210 (290)

Dysflective cones: Visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis. [PDF]

, 2017
PURPOSE:Confocal adaptive optics scanning laser ophthalmoscope (AOSLO) images provide a sensitive measure of cone structure. However, the relationship between structural findings of diminished cone reflectivity and visual function is unclear.
Cunningham, Emmett T, Duncan, Jacque L, Foote, Katharina G, Gorin, Michael B, Lujan, Brandon J, Qin, Jia, Ratnam, Kavitha, Roorda, Austin, Tu, Joanna H, Tuten, William S   +9 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Photoreceptor Inner Segment Morphology in Best Vitelliform Macular Dystrophy [PDF]

, 2016
PURPOSE To characterize outer retina structure in best vitelliform macular dystrophy (BVMD) and to determine the effect of macular lesions on overlying and adjacent photoreceptors.
Carroll, Joseph, Cooper, Robert F., Dubra, Alfredo, Higgins, Brian P., Johnson, Ryan D., Scoles, Drew, Stepien, Kimberly E., Sulai, Yusufu N.   +7 more
core   +2 more sources

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

Derivation of three induced pluripotent stem cell lines under feeder-free culture conditions from peripheral blood mononuclear cells (PBMC) of Indian patients suffering from inherited retinal diseases carrying different mutations

Stem Cell Research, 2020
Inherited retinal diseases (IRDs) are clinically and genetically heterogenous diseases affecting the neural retina and retinal pigment epithelium resulting in irreversible blindness.
Vijay Bhaskar Reddy Konala, Swapna Nandakumar, Rajani Battu, Rajarshi Pal   +3 more
doaj   +1 more source

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

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics—A Study on 53 Eyes

Diagnostics, 2023
Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms ...
Katarzyna Samelska, Jacek Paweł Szaflik, Maria Guszkowska, Anna Katarzyna Kurowska, Anna Zaleska-Żmijewska   +4 more
doaj   +1 more source

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization [PDF]

, 2020
Background: Requests to test for thrombophilia in the clinical context are often not evidence-based. Aim: To define the role of a series of prothrombotic gene variants in a large population of patients with different venous thromboembolic diseases ...
AMATO, FELICE, BRUZZESE, DARIO, CASTALDO, GIUSEPPE, CERNERA, Gustavo, COMEGNA, Marika, DI LULLO, ANTONELLA MIRIAM, DI MINNO, ALESSANDRO, ELCE, AUSILIA, LIGUORI, RENATO, ZARRILLI, FEDERICA   +9 more
core   +1 more source