Zobrazeno 1 - 10
of 1 599
pro vyhledávání: '"Cone-rod dystrophy"'
Autor:
Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M. Nishiguchi, Hiroaki Ushida
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C >
Externí odkaz:
https://doaj.org/article/20870e1eb810428d8db509ca999f6c88
Autor:
Kevin Puertas-Neyra, Rosa M. Coco-Martin, Leticia A. Hernandez-Rodriguez, Dino Gobelli, Yenisey Garcia-Ferrer, Raicel Palma-Vecino, Juan José Tellería, Maria Simarro, Miguel A. de la Fuente, Ivan Fernandez-Bueno
Publikováno v:
Stem Cell Research & Therapy, Vol 15, Iss 1, Pp 1-24 (2024)
Abstract Background Inherited retinal dystrophies (IRD) are one of the main causes of incurable blindness worldwide. IRD are caused by mutations in genes that encode essential proteins for the retina, leading to photoreceptor degeneration and loss of
Externí odkaz:
https://doaj.org/article/dda4a69b160541f4adba672a7f7cb41d
Autor:
Seyedeh Maryam Hosseini, Reza Nejad Shahrokh Abadi, Meisam Babaei, Fatemeh Eghbal, Narges Hashemi
Publikováno v:
Clinical Case Reports, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT This case report documents the experience of a 5‐year‐old girl who showed signs of retinal degeneration as the initial symptom of neuronal ceroid lipofuscinosis (NCLs). She originally presented with visual failure, which rapidly progress
Externí odkaz:
https://doaj.org/article/96fb80cddf4147ccb142717e2ea14ebb
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundAlström disease is a rare disorder caused by various variants in the ALMS1 gene. It is characterised by multiorgan involvement, namely neurosensory deficits, endocrine and metabolic disturbances, cardiomyopathy, and hepatic and renal dysfu
Externí odkaz:
https://doaj.org/article/1638a40f562441cc87b1cfef65fa56ad
Autor:
Pei-Liang Wu, Pei-Hsuan Lin, Winston Lee, Ethan Hung-Hsi Wang, Eugene Yu-Chuan Kang, Laura Liu, Nan-Kai Wang
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102094- (2024)
Purpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D)
Externí odkaz:
https://doaj.org/article/43287b412b3d44e28a593f7169965e8b
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-8 (2023)
Abstract Background Inherited retinal diseases form a rare, highly heterogeneous group of genetic disorders characterized by retinal degeneration. It is considered one of the leading causes of debilitating visual loss and blindness in children and yo
Externí odkaz:
https://doaj.org/article/78419ca248084861bc1b6079b1e93e31
Autor:
Russell W. Mellen, Kaitlyn R. Calabro, K. Tyler McCullough, Sean M. Crosson, Alejandro de la Cova, Diego Fajardo, Emily Xu, Sanford L. Boye, Shannon E. Boye
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 48-64 (2023)
Cone-rod dystrophy 6 (CORD6) is caused by gain-of-function mutations in the GUCY2D gene, which encodes retinal guanylate cyclase-1 (RetGC1). There are currently no treatments available for this autosomal dominant disease, which is characterized by se
Externí odkaz:
https://doaj.org/article/e73f2be0ddd74708a9903c786112e07c
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Purpose: To investigate pathogenic variants in six families with cone–rod dystrophy (CORD) presenting various inheritance patterns by using whole-exome sequencing (WES) and analyzing phenotypic features.Methods: A total of six families with CORD we
Externí odkaz:
https://doaj.org/article/e1ff1e15005846e98a8503626c1aeb75
Autor:
Yan-Ping Li, Ren-Juan Shen, You-Min Cheng, Qingqing Zhao, Kangxin Jin, Zi-Bing Jin, Shaodan Zhang
Publikováno v:
Heliyon, Vol 9, Iss 9, Pp e20146- (2023)
Inherited retinal dystrophies (IRDs) are a heterogeneous group of visual disorders caused by different pathogenic mutations in genes and regulatory sequences. The endoplasmic reticulum (ER) membrane protein complex (EMC) subunit 3 (EMC3) is the core
Externí odkaz:
https://doaj.org/article/d10b9317c5034d67a2d71b46430bda1f
Publikováno v:
International Journal of Ophthalmology, Vol 15, Iss 12, Pp 1915-1923 (2022)
AIM: To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation (
Externí odkaz:
https://doaj.org/article/f8b946cf918d469786ad56c62e2b4e08