Results 71 to 80 of about 2,008 (179)

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Orphanet Journal of Rare Diseases, 2020
Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies.
Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa, Maciej Robert Krawczyński   +3 more
doaj   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Catalytic receptors

British Journal of Pharmacology, Volume 182, Issue S1, Page S259-S306, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Chloe J. Peach, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Annie Beuve, Peter Brouckaert, Clare Bryant, John C. Burnett, Richard W. Farndale, Andreas Friebe, John Garthwaite, Adrian J. Hobbs, Gavin E. Jarvis, Laura Kilpatrick, Doris Koesling, Michaela Kuhn, Birgit Leitinger, David MacEwan, Tom P. Monie, Lincoln R. Potter, Michael Russwurm, Harald H. H. W. Schmidt, Johannes‐Peter Stasch, Scott A. Waldman   +31 more
wiley   +1 more source

Early-Onset Progressive Degeneration of the Area Centralis in RPE65-Deficient Dogs. [PDF]

, 2017
PURPOSE: Retinal epithelium-specific protein 65 kDa (RPE65)-deficient dogs are a valuable large animal model species that have been used to refine gene augmentation therapy for Leber congenital amaurosis type-2 (LCA2).
Ali, RR, Annear, MJ, Bainbridge, JW, Gervais, KJ, Mowat, FM, Occelli, LM, Petersen-Jones, SM, Querubin, J, Smith, AJ   +8 more
core   +1 more source

Glomeruli of the Mouse Olfactory Bulb: Numbers, Sizes, Shapes

European Journal of Neuroscience, Volume 62, Issue 11, December 2025.
Serial two‐photon tomography was used to generate complete image stacks of 12 mouse olfactory bulbs labeled immunohistochemically as whole mounts with antibodies against the glomerular marker VGLUT2, and 33,137 glomeruli were manually segmented. The median of 2851 glomeruli per olfactory bulb at postnatal day 56 corresponds to 2.50 glomeruli per intact
Yu Weng, Bolek Zapiec, Renato Paredes, Peter Mombaerts   +3 more
wiley   +1 more source

New Mutation, P575L, in the GUCY2D Gene in a Family With Autosomal Dominant Progressive Cone Degeneration [PDF]

Archives of Ophthalmology, 2008
To clinically characterize the retinal abnormalities and identify the mutation causing an autosomal dominant cone degeneration in an African American family.Clinical characterization of family members using fundus photography, fluorescein angiography, and electrophysiological testing.
Kent W, Small, Rosamaria, Silva-Garcia, Nitin, Udar, Eddy V, Nguyen, John R, Heckenlively   +4 more
openaire   +2 more sources

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example [PDF]

European Journal of Human Genetics, 2007
The mosaic pattern of haplotypes observed around a single mutation results from one or several founder events. The difficulties involved in calculating the age of the variant are greatly reduced by assuming a single event, but this simplification may bias analysis of the genealogy of the mutation.
Sylvain, Hanein, Isabelle, Perrault, Sylvie, Gerber, Nathalie, Delphin, David, Benezra, Stavit, Shalev, Rivka, Carmi, Josué, Feingold, Jean-Louis, Dufier, Arnold, Munnich, Josseline, Kaplan, Jean-Michel, Rozet, Marc, Jeanpierre   +12 more
openaire   +2 more sources

Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy.

PLoS ONE, 2013
Large animal models are an important resource for the understanding of human disease and for evaluating the applicability of new therapies to human patients.
Corinne Kostic, Simon Geoffrey Lillico, Sylvain Vincent Crippa, Nicolas Grandchamp, Héloïse Pilet, Stéphanie Philippe, Zen Lu, Tim James King, Jacques Mallet, Chamsy Sarkis, Yvan Arsenijevic, Christopher Bruce Alexander Whitelaw   +11 more
doaj   +1 more source

The molecular basis of human retinal and vitreoretinal diseases [PDF]

, 2010
During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W, Kloeckener-Gruissem, B, Neidhardt, J   +2 more
core   +1 more source

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies [PDF]

American Journal of Ophthalmology, 2020
To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LCA) in a cohort of children and adults, in preparation for trials of novel therapies.Retrospective case series.Participants: Patients with GUCY2D-LCA at a single referral center.Review of clinical notes, retinal imaging including fundus ...
Zaina Bouzia, Michalis Georgiou, Sarah Hull, Anthony G. Robson, Kaoru Fujinami, Tryfon Rotsos, Nikolas Pontikos, Gavin Arno, Andrew R. Webster, Alison J. Hardcastle, Alessia Fiorentino, Michel Michaelides   +11 more
openaire   +5 more sources