Výsledky vyhledávání - "Myopia/genetics"

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

Autor: Musolf, Anthony M., Haarman, Annechien E.G., Luben, Robert N., Ong, Jue Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Han, Xikun, He, Mingguang, Hewitt, Alex W., Hoang, Quan V., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Lass, Jonathan H., Wang, Ya Xing, van Duijn, Cornelia M., Verhoeven, Virginie J.M., Klaver, Caroline C.W., Bailey-Wilson, Joan E.

Publikováno v: Communications Biology, 6(1):6. Springer Nature
Musolf, A M, Haarman, A E G, Luben, R N, Ong, J, Patasova, K, Hernandez Trapero, R, Marsh, J A, Jain, I, Jain, R, Wang, P Z, Lewis, D D, Tedja, M S, Iglesias, A I, Li, H, Cowan, C S, Biino, G, Klein, A P, Duggal, P, Mackey, D A, Hayward, C, Haller, T, Metspalu, A, Wedenoja, J, Pärssinen, O, Cheng, C-Y, Saw, S M, Stambolian, D, Hysi, P G, Khawaja, A P, Vitart, V, Hammond, C J, van Duijn, C M, Verhoeven, V J M & Klaver, C C W & Bailey-Wilson, J E 2023, ' Rare variant analyses across multiethnic cohorts identify novel genes for refractive error ', Communications biology, vol. 6, no. 1, 6, pp. 6 . https://doi.org/10.1038/s42003-022-04323-7
Communications Biology, 6
Communications Biology, 6, 1

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d363942efe8b75c027b7a547ed8dc2
https://pure.eur.nl/en/publications/371e05b8-de82-4a39-9d30-4fb9a032cc83

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Akademický článek

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Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia

Autor: Maureen Neitz, Melissa Wagner-Schuman, Jessica S. Rowlan, James A. Kuchenbecker, Jay Neitz

Publikováno v: Genes; Volume 13; Issue 6; Pages: 942

Nearsightedness (myopia) is a global health problem of staggering proportions that has driven the hunt for environmental and genetic risk factors in hopes of gaining insight into the underlying mechanism and providing new avenues of intervention. Myo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65fd71795aa81e397622d537c840adf4

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Akademický článek

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De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Autor: Heleen H. Arts, Mieke M. van Haelst, Nine V A M Knoers, Ronald Roepman, Ellen van Binsbergen, Rachel H. Giles, Machteld M. Oud, Nayia Nicolaou, Marijn Stokman, Gisela G. Slaats, Kirsten Y. Renkema, Isaac J. Nijman

Publikováno v: American Journal of Medical Genetics Part A, 170(6), 1566-9. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170(6), 1566-1569. Wiley
American Journal of Medical Genetics. Part A, 170, 1566-9
American journal of medical genetics. Part A, 170(6), 1566-1569. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170(6), 1566. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 6, pp. 1566-9
Stokman, M F, Oud, M M, van Binsbergen, E, Slaats, G G, Nicolaou, N, Renkema, K Y, Nijman, I J, Roepman, R, Giles, R H, Arts, H H, Knoers, N V A M & van Haelst, M M 2016, ' De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia ', American Journal of Medical Genetics Part A, vol. 170, no. 6, pp. 1566-9 . https://doi.org/10.1002/ajmg.a.37598

Item does not contain fulltext We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup-shaped ears, and a preauricular skin tag. Arr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c1975f9213a9ce2f4e280008b7bca66
https://research.vumc.nl/en/publications/04203e44-bf9d-48bb-b9fe-8fa37580a002

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Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Autor: Aurore Germain, Veselina Moskova-Doumanova, Guylène Le Meur, Francis L. Munier, Christina Zeitz, Kim T. Nguyen-Ba-Charvet, Jean-Paul Saraiva, Bernd Wissinger, Hoan Nguyen, Eberhart Zrenner, Elise Orhan, Samuel G. Jacobson, Aline Antonio, Daniel F. Schorderet, Agnes B. Renner, Susanne Kohl, Wolfgang Berger, Sabine Defoort-Dhellemmes, Christian P. Hamel, Dror Sharon, Françoise Meire, Katrina Prescott, Bart P. Leroy, Dominique Bonneau, Ian Simmons, Ulrich Kellner, Hélène Dollfus, Thierry Léveillard, Xavier Zanlonghi, Christelle Michiels, Olivier Poch, Odile Lecompte, Robert K. Koenekoop, Isabelle Drumare, Marie-Elise Lancelot, Thomy de Ravel, Birgit Lorenz, Vernon Long, Christoph Friedburg, Markus N. Preising, Tien D. Luu, Mélanie Letexier, Eyal Banin, Elfride De Baere, Kinga M. Bujakowska, José-Alain Sahel, Charlotte M. Poloschek, Isabelle Audo, Claire Audier, Shomi S. Bhattacharya, Ingele Casteels, Saddek Mohand-Said

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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Audo, Isabelle, et al.
Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b643acd07127036490be7d7d4c921690
https://doi.org/10.1016/j.ajhg.2011.12.007

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A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14

Publikováno v: Nature Genetics
Nature Genetics; Vol 42
Nature Genetics, 42(10), 897-901. Nature Publishing Group
Nature genetics, 42(10), 897-+. Nature Publishing Group
Nature Genetics, 42(10), 897
Nature Genetics, 42, 897-901. Nature Publishing Group

Refractive errors are the most common ocular disorders worldwide and may lead to blindness. Although this trait is highly heritable, identification of susceptibility genes has been challenging. We conducted a genome-wide association study for refract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c751405c3b19e0185010a2ae17c4c8d

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Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics

Autor: Marc Abitbol, Virginie Dinet, Roberto Cappai, Yvan Arsenijevic, Na An, Francine Behar-Cohen, Mohamed El Sanharawi, Giuseppe D. Ciccotosto, Laurent Jonet, Frédéric Mascarelli, Céline Borras, Michèle Savoldelli, Kimberley Delaunay, Corinne Kostic, Caroline Pirou, Isabelle Ranchon-Cole

Publikováno v: Molecular Brain
Molecular Brain, 2015, 9 (1), pp.64. ⟨10.1186/s13041-016-0245-z⟩
Molecular Brain, BioMed Central, 2016, <10.1186/s13041-016-0245-z>
Molecular Brain, 2015, 9 (1), pp.64. 〈10.1186/s13041-016-0245-z〉
Molecular brain, vol. 9, no. 1, pp. 64

Background Amyloid precursor protein knockout mice (APP-KO) have impaired differentiation of amacrine and horizontal cells. APP is part of a gene family and its paralogue amyloid precursor-like protein 2 (APLP2) has both shared as well as distinct ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8d3b103ccec29f39ebca104230e8144
https://pubmed.ncbi.nlm.nih.gov/27267879

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A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population

Autor: Yip, S. P., Kim Hung LEUNG, Fung, W. Y., Ng, P. W., Sham, P. C., Yap, M. K. H.

Publikováno v: Scopus-Elsevier
Molecular Vision

Purpose: We examined the relationship between high myopia and common polymorphisms in four candidate genes: collagen, type XI, alpha 1 (COL11A1); collagen, type XVIII, alpha 1 (COL18A1); fibrillin 1 (FBN1); and procollagenlysine 1,2-oxoglutarate 5-di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::beedd497d59c47727a3189baaae0a9b5
http://hdl.handle.net/10722/137520

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