Zobrazeno 1 - 10
of 355
pro vyhledávání: '"RS1"'
Autor:
E. V. Monakhova, V. D. Kruglikov, A. S. Vodop’yanov, Ya. M. Krasnov, S. D. Katyshev, N. A. Sharapova, L. P. Alekseeva, E. A. Men’shikova, V. V. Evdokimova, M. I. Ezhova, A. K. Noskov
Publikováno v:
Проблемы особо опасных инфекций, Vol 0, Iss 2, Pp 132-139 (2024)
The aim of the work was to determine the pheno- and genotypic features of the aquatic CTX+ strain of Vibrio cholerae isolated in 2023 and a comparative bioinformatic analysis of whole-genome sequencing data.Materials and methods. Whole-genome sequenc
Externí odkaz:
https://doaj.org/article/dab1dacf3dd145cda585e5b9f66ed660
Autor:
Susmita Chowdhury, Prakash Chermakani, Girish Baliga, Rupa Anjanamurthy, Periasamy Sundaresan
Publikováno v:
Indian Journal of Ophthalmology, Vol 72, Iss 6, Pp 902-911 (2024)
Purpose: Retinoschisis is a distinctive condition characterized by intraretinal layer clefts, primarily associated with X-linked recessive inheritance due to RS1 gene mutations. This study aims to uncover the RS1 mutation spectrum in a cohort of 22 X
Externí odkaz:
https://doaj.org/article/1b52d8042d7a4c338ed97a749f04ab7f
Autor:
Salma Hassan, Ying Hsu, Jacob M. Thompson, Emily Kalmanek, Joel A. VandeLune, Sarah Stanley, Arlene V. Drack
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
PurposeX-linked retinoschisis (XLRS), due to loss-of-function mutations in the retinoschisin (RS1) gene, is characterized by a modest to severe decrease in visual acuity. Clinical trials for XLRS utilizing intravitreal (IVT) gene therapy showed ocula
Externí odkaz:
https://doaj.org/article/58df4dcdba794269ba2e10086642ed43
Akademický článek
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Akademický článek
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Publikováno v:
Thoracic Cancer, Vol 13, Iss 12, Pp 1850-1861 (2022)
Abstract Background Although it has a poor prognosis, patients with lung adenocarcinoma (LUAD) have a relatively higher 5‐year survival period. Thus, it is necessary to identify effective prognostic markers to evaluate the effect of early treatment
Externí odkaz:
https://doaj.org/article/2d31c26317ec4f3692eb9b36e9624c22
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purpose: We aim to analyze the clinical and genetic features in a Chinese family with congenital retinoschisis by whole-exome sequencing and comprehensive clinical examination.Methods: Six members were recruited from a Chinese family. Three of them w
Externí odkaz:
https://doaj.org/article/7bba7ab069704e34beee3129ade22268
Autor:
Rahini Rajendran, Dhandayuthapani Sudha, Subbulakshmi Chidambaram, Hemavathy Nagarajan, Umashankar Vetrivel, Jayamuruga Pandian Arunachalam
Publikováno v:
BMC Research Notes, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Objective Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 and NDP genes respectively. Both are likely to be monogenic and no locus heterogeneity has been reported. However, there are repor
Externí odkaz:
https://doaj.org/article/3aa8cae132ad4238822d3b956746910b
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
PurposeTo study the long-term photoreceptor changes and to evaluate the effects of topical application of a carbonic anhydrase inhibitor (CAI) in a mouse model of X-linked retinoschisis (XLRS).MethodsConventional electroretinograms (ERGs) and dark-ad
Externí odkaz:
https://doaj.org/article/2f2ec0219e1141fdba487a73c238017b
Publikováno v:
AIMS Microbiology, Vol 6, Iss 2, Pp 144-151 (2020)
Cholera is a severe form of watery diarrhea caused by Vibrio cholerae toxigenic strains. Typically, the toxigenic variants of V. cholerae harbor a bacteriophage, cholera toxin phage, integrated in their genome. The ctxAB genes from the phage genome e
Externí odkaz:
https://doaj.org/article/80107fdc6e3b4682a657508dc84f606d