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New variants and in silico analyses in GRK1 associated Oguchi disease

Autor: James A. Poulter, Elfride De Baere, Kaoru Fujinami, Andrew R. Webster, Atta Ur Rehman, Gavin Arno, Abdur Rehman, Rachel L. Taylor, Sarah A. Harris, Graeme C.M. Black, James Bellingham, Julie De Zaeytijd, Martin McKibbin, Chris F. Inglehearn, Molly S. C. Gravett, Kamron N. Khan, Muhammad Ansar, Takaaki Hayashi, Robert H. Henderson, Manir Ali, Nigel P. Davies, Dan Donnelly, Mineo Kondo, Omar A. Mahroo, Carmel Toomes, Bart P. Leroy, Carlo Rivolta

Publikováno v: Poulter, J A, Gravett, M, Taylor, R L, Fujinami, K, Zaeytijd, J D, Bellingham, J, Rehman, A U, Hayashi, T, Kondo, M, Rehman, A, Ansar, M, Donnelly, D, Toomes, C, Ali, M, De Baere, E, Leroy, B P, Davies, N, Henderson, R, Webster, A R, Rivolta, C, Mahroo, O A, Arno, G, Black, G, McKibbin, M, Harris, S, Khan, K N & Inglehearn, C F 2020, ' New variants and in silico analyses in GRK1 associated Oguchi disease ', Human Mutation . https://doi.org/10.1002/humu.24140
Human mutation, vol. 42, no. 2, pp. 164-176
Human Mutation
HUMAN MUTATION

Biallelic mutations in G‐Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease causing GRK1 variants and use in‐depth bioin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12a94e3ebbe2ae92f189e35387d79dc6
https://doi.org/10.1002/humu.24140

Benign familial fleck retina: multimodal imaging including optical coherence tomography angiography

Autor: Garcia, Jose Mauricio Botto de Barros, Isaac, David Leonardo Cruvinel, Sardeiro, Tainara, Aquino, Érika, Avila, Marcos

Publikováno v: Arquivos Brasileiros de Oftalmologia, Volume: 80, Issue: 5, Pages: 321-323, Published: OCT 2017

This report presents multimodal imaging of a 27-year-old woman diagnosed with benign familial fleck retina (OMIM 228980), an uncommon disorder. Fundus photographs revealed retinal flecks that affected her post-equatorial retina but spared the macular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::c4b5afadc96833ef3776cf4a45131960
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000500012&lng=en&tlng=en

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model

Autor: Carolina Uggenti, Kit Briant, Anne-Kathrin Streit, Steven Thomson, Yee Hui Koay, Richard A. Baines, Eileithyia Swanton, Forbes D. Manson

Publikováno v: Uggenti, C, Briant, K, Streit, A-K, Thomson, S, Koay, Y H, Baines, R A, Swanton, E & Manson, F D 2016, ' Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model ', Disease Models and Mechanisms, vol. 9, no. 11, pp. 1317-1328 . https://doi.org/10.1242/dmm.024216
Disease Models & Mechanisms
Uggenti, C, Briant, K, Streit, A-K, Thomson, S, Koay, Y H, Baines, R, Swanton, L & Manson, F D 2016, ' Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model ', DMM Disease Models and Mechanisms, vol. 9, no. 11, pp. 1317-1328 . https://doi.org/10.1242/dmm.024216
Disease Models & Mechanisms, Vol 9, Iss 11, Pp 1317-1328 (2016)

Autosomal recessive bestrophinopathy (ARB) is a retinopathy caused by mutations in the bestrophin-1 protein, which is thought to function as a Ca2+-gated Cl− channel in the basolateral surface of the retinal pigment epithelium (RPE). Using a stably

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::239865a4b1663d966fc5181c997e1a95
https://hdl.handle.net/20.500.11820/1cb41380-f9f4-4178-bead-830af72f8a24

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

Autor: Véronique Paquis-Flucklinger, Corinne Baudoin, Maxime Hebrard, José-Alain Sahel, Christina Zeitz, Bernd Wissinger, Jean-Michel Rozet, Anne-Françoise Roux, Isabelle Audo, Isabelle Perrault, Pascal Reynier, Hélène Dollfus, Claire-Marie Dhaenens, Mireille Claustres, Cécile Delettre, Christian P. Hamel, Dominique Bonneau, Catherine Blanchet, Benoit Arveiler, Béatrice Bocquet, Patrizia Amati-Bonneau, Audrey Sénéchal, Jean-Paul Bonnefont, Marie-Odile Surget, Isabelle Meunier, Suzanne Kohl, Gaël Manes, Virginie Marquette, Josseline Kaplan, Annie Lacroux, Patrick Calvas

Publikováno v: Ophthalmic Epidemiology
Ophthalmic Epidemiology, Taylor & Francis, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩
Ophthalmic Epidemiology, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩

International audience; PURPOSE:Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fe16ac2c24e1b783beecd383c53094
https://hal.umontpellier.fr/hal-02446185