Results 81 to 90 of about 2,008 (179)

Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness.

PLoS Medicine, 2006
BackgroundLeber congenital amaurosis (LCA) is a genetically heterogeneous group of retinal diseases that cause congenital blindness in infants and children.
Melissa L Williams, Jason E Coleman, Shannon E Haire, Tomas S Aleman, Artur V Cideciyan, Izabel Sokal, Krzysztof Palczewski, Samuel G Jacobson, Susan L Semple-Rowland   +8 more
doaj   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

Genetic testing for central areolar choroidal dystrophy

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for central areolar choroidal dystrophy (CACD). CACD is mostly inherited in an autosomal dominant manner.
Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. [PDF]

PLoS ONE, 2015
Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors.
Sundaramurthy Srilekha, Tharigopala Arokiasamy, Natarajan N Srikrupa, Vetrivel Umashankar, Swaminathan Meenakshi, Parveen Sen, Suman Kapur, Nagasamy Soumittra   +7 more
doaj   +1 more source

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis. [PDF]

, 2020
Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants ...
Abraham, Jean, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Ashworth, Alan, Auer, Paul L, Auvinen, Päivi, Beckmann, Matthias W, Beesley, Jonathan, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Blot, William, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y, Burwinkel, Barbara, Børresen-Dale, Anne-Lise, Caldas, Carlos, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J, Chin, Suet-Feung, Clarke, Christine L, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Dunn, Janet A, Dunning, Alison M, Dwek, Miriam, Earl, Helena M, Eccles, Diana M, Eliassen, A Heather, Ellberg, Carolina, Escala-Garcia, Maria, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, George, Angela, Giles, Graham G, Goldgar, David E, González-Neira, Anna, Grip, Mervi, Guo, Qi, Guénel, Pascal, Haiman, Christopher A, Hamann, Ute, Harrington, Patricia A, Hiller, Louise, Hooning, Maartje J, Hopper, John L, Howell, Anthony, Huang, Chiun-Sheng, Huang, Guanmengqian, Hunter, David J, Håkansson, Niclas, Jakubowska, Anna, John, Esther M, Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Kitahara, Cari M, Koppert, Linetta B, Kraft, Peter, Kristensen, Vessela N, Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L, Mulligan, Anna Marie, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Olshan, Andrew F, Olson, Janet E, Olsson, Håkan   +99 more
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The zebrafish eye—a paradigm for investigating human ocular genetics [PDF]

, 2016
Although human epidemiological and genetic studies are essential to elucidate the aetiology of normal and aberrant ocular development, animal models have provided us with an understanding of the pathogenesis of multiple developmental ocular malformations.
Moosajee, M, Richardson, R, Tracey-White, D, Webster, A   +3 more
core   +1 more source

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

FEBS Letters, Volume 599, Issue 18, Page 2557-2570, September 2025.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää, Ahmed B. Montaser, Henri Leinonen   +2 more
wiley   +1 more source

Distilling a visual network of Retinitis Pigmentosa gene-protein interactions to uncover new disease candidates [PDF]

, 2015
BACKGROUND: Retinitis pigmentosa (RP) is a highly heterogeneous genetic visual disorder with more than 70 known causative genes, some of them shared with other non-syndromic retinal dystrophies (e.g. Leber congenital amaurosis, LCA).
Abril Ferrando, Josep Francesc, 1970-, Boloc, Daniel, Castillo-Lara, Sergio, Gonzàlez-Duarte, Roser, Marfany i Nadal, Gemma   +4 more
core   +1 more source

The Chronological Trigger: The Orchestra Between Homeobox Genes and the Circadian Clock During Development

Biology of the Cell, Volume 117, Issue 7, July 2025.
Homeobox genes associated with the circadian rhythm and the development of specific tissues, playing crucial roles in regulating cellular differentiation and the formation of structures during embryonic development. ABSTRACT As master regulators of embryonic development, regulating homeobox genes is fundamental for developmental biology.
Joice de Faria Poloni, Bruno César Feltes   +1 more
wiley   +1 more source

Terapía génica en enfermedades oculares [PDF]

, 2018
Universidad de Sevilla.
Marín Robayo, Mónica
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