Results 121 to 130 of about 15,770 (195)

Bioorthogonal Chemoenzymatic Functionalization of Calmodulin for Bioconjugation Applications [PDF]

, 2015
Calmodulin (CaM) is a widely studied Ca^(2+)-binding protein that is highly conserved across species and involved in many biological processes, including vesicle release, cell proliferation, and apoptosis.
Fraseur, Julia G., Kinzer-Ursem, Tamara L., Kulkarni, Chethana, Lo, Megan, Tirrell, David A.   +4 more
core   +2 more sources

Establishment of CSUASOi001-A, a non-integrated induced pluripotent stem cell line from urine-derived cells of a Chinese patient carrying RS1 gene mutation

Stem Cell Research, 2019
X-linked juvenile retinoschisis (XLRS) is one of the most severely affected genetic causes of irreversible retinal degeneration diseases in young males, especially school-age boys.
Xin Yan, Yonglong Guo, Juan Chen, Zekai Cui, Jianing Gu, Yini Wang, Shengru Mao, Chengcheng Ding, Jiansu Chen, Shibo Tang   +9 more
doaj   +1 more source

Genetic testing for X-linked juvenile retinoschisis

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to one in
Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo   +5 more
doaj   +1 more source

Multimodal Imaging in the Diagnosis of Juvenile Retinoschisis: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Retinoschisis is a retinal disorder characterised by splitting within the neurosensory retina, which leads to structural disorganisation and varying degrees of visual loss.
Gufran Ali Kamdar, Shikha Rai, Sumit Navneet Toshniwal, (Col) Ok Radhakrishnan   +3 more
doaj   +1 more source

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.

Molecular vision, 2013
To determine the clinical features and to identify mutations in the retinoschisis gene (RS1) in ten patients with X-linked retinoschisis (XLRS).Ten male patients from nine Polish families were included in this study. Ophthalmologic examinations, including optical coherence tomography (OCT) and full-field electroretinography (ERG), were performed in all
Anna, Skorczyk, Maciej R, Krawczyński
openaire   +1 more source

R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.

International journal of ophthalmology, 2014
To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma.Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced.The
Xiu-Feng Huang, Chang-Sen Tu, Dong-Jun Xing, De-Kang Gan, Ge-Zhi Xu, Zi-Bing Jin   +5 more
openaire   +2 more sources

Search for resonant diboson production in the WW/WZ→ℓνjj decay channels with the ATLAS detector at √s=7  TeV [PDF]

, 2013
A search for resonant diboson production using a data sample corresponding to 4.7  fb-1 of integrated luminosity collected by the ATLAS experiment at the Large Hadron Collider in pp collisions at √s=7  TeV is presented.

core  

Disparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the RS1 gene

Ophthalmic Genetics
In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient's age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were examined at the same age yet exhibited significantly different phenotypes.This is a retrospective case report ...
Peter, Kiraly, Sian, Sperring, Felix F, Reichel, M Dominik, Fischer   +3 more
openaire   +2 more sources

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Molecular vision, 2008
To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. Our genetic results were compared to a mouse model of XLRS.Complete ophthalmic examinations were performed on five members (two male patients, two ...
Balázs, Lesch, Viktória, Szabó, Melinda, Kánya, Balázs, Varsányi, Gábor M, Somfai, János, Hargitai, Rita, Vámos, Orsolya, Fiedler, Agnes, Farkas   +8 more
openaire   +1 more source

Characteristics of Vibrio cholerae O1 CTX⁺ Strain Isolated from the Temernik River in Rostov-on-Don in 2023

Проблемы особо опасных инфекций
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.
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   +10 more
doaj   +1 more source