Results 31 to 40 of about 15,770 (195)

Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene

Stem Cell Research, 2023
X-linked retinoschisis (XLRS) is one of the most common retinal genetic diseases with progressive visual impairment in childhood affecting males. It is manifested with macular and/or peripheral schisis in neural retinas with no effective treatment ...
Shengru Mao, Xihao Sun, Chunwen Duan, Bing Jiang, Hongjie Ma, Shangli Ji, Yuqin Liang, Ruting Zhang, Jiansu Chen, Shibo Tang   +9 more
doaj   +1 more source

Disruption of Imprinted Expression ofU2afbp-rs/U2af1-rs1 Gene in Mouse Parthenogenetic Fetuses [PDF]

Journal of Biological Chemistry, 2001
The present study shows that the U2afbp-rs gene, a paternally expressed imprinted gene, is activated and expressed in a biallelic manner from maternal alleles in parthenogenetic mouse fetuses on day 9.5 of gestation. The mean expression was detected to be 88% (31-134%) of that in control biparental fetuses, using real-time quantitative reverse ...
Y, Sotomaru, Y, Kawase, T, Ueda, Y, Obata, H, Suzuki, I, Domeki, I, Hatada, T, Kono   +7 more
openaire   +2 more sources

Dual Supramolecular Nanoparticle Vectors Enable CRISPR/Cas9‐Mediated Knockin of Retinoschisin 1 Gene—A Potential Nonviral Therapeutic Solution for X‐Linked Juvenile Retinoschisis

Advanced Science, 2020
The homology‐independent targeted integration (HITI) strategy enables effective CRISPR/Cas9‐mediated knockin of therapeutic genes in nondividing cells in vivo, promising general therapeutic solutions for treating genetic diseases like X‐linked juvenile ...
Shih‐Jie Chou, Peng Yang, Qian Ban, Yi‐Ping Yang, Mong‐Lien Wang, Chian‐Shiu Chien, Shih‐Jen Chen, Na Sun, Yazhen Zhu, Hongtao Liu, Wenqiao Hui, Tai‐Chi Lin, Fang Wang, Ryan Yue Zhang, Viet Q. Nguyen, Wenfei Liu, Mengxiang Chen, Steve J. Jonas, Paul S. Weiss, Hsian‐Rong Tseng, Shih‐Hwa Chiou   +20 more
doaj   +1 more source

Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis [PDF]

, 2017
The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure.
Colavito, Davide, Giudice Elda, Del, Leon, Alberta, Maritan, Veronica, Miotto, Stefania, Patrizia Tormene, Alma, Piermarocchi, Rita, Piermarocchi, Stefano   +7 more
core   +1 more source

Validation of smart nanoparticles as controlled drug delivery systems: loading and pH-dependent release of pilocarpine [PDF]

, 2017
Micelles are good devices for use as controlled drug delivery systems because they exhibit the ability to protect the encapsulated substance from the routes of degradation until they reach the site of action. The present work assesses loading kinetics of
Galbis Fuster, Elsa, Iglesias González, Nieves, Lucas Rodríguez, Ricardo, Muñoz Guerra, Sebastián, Tinajero, Ernesto   +4 more
core   +6 more sources

Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials

Frontiers in Medicine, 2023
IntroductionX-linked retinoschisis (XLRS) is an inherited retinal disease (IRD) caused by pathogenic mutations in the retinoschisin gene, RS1. Affected individuals develop retinal layer separation, leading to loss of visual acuity (VA). Several XLRS gene
Beau J. Fenner, Beau J. Fenner, Beau J. Fenner, Beau J. Fenner, Beau J. Fenner, Jonathan F. Russell, Jonathan F. Russell, Arlene V. Drack, Arlene V. Drack, Alina V. Dumitrescu, Alina V. Dumitrescu, Elliott H. Sohn, Elliott H. Sohn, Stephen R. Russell, Stephen R. Russell, H. Culver Boldt, H. Culver Boldt, Louisa M. Affatigato, Jeremy M. Hoffmann, Jeaneen L. Andorf, Edwin M. Stone, Edwin M. Stone, Ian C. Han, Ian C. Han   +23 more
doaj   +1 more source

Aberrant Methylation of an Imprinted Gene U2af1-rs1(SP2) Caused by Its Own Transgene [PDF]

Journal of Biological Chemistry, 1997
Genomic imprinting refers to the parental allele-specific expression of genes. The precise mechanism underlying this phenomenon, which may involve DNA methylation, is not yet known. U2af1-rs1(SP2) is an imprinted gene expressed from the paternal allele and is methylated on the maternal allele. Here we report an artificial system in which expression and
Hatada, I., Nabetani, A., Arai, Y., Ohishi, S., Suzuki, M., Miyabara, S., Nishimune, Y., Mukai, T.   +7 more
openaire   +2 more sources

Androgen Receptor and Vasopressin Receptor (AVPR1a) Genetic Polymorphisms are not associated with Marital Status or Fertility among Ariaal Men of Northern Kenya [PDF]

, 2009
A growing body of scholarship implicates testosterone and vasopressin in male reproductive behavior, including in humans. Since hormones exert their effects through their respective receptors, an open question has been whether genetic polymorphisms in ...
Benjamin C. Campbell, Dan T. A. Eisenberg, Peter B. Gray   +2 more
core   +2 more sources

CHROMATIN STRUCTURE AND U2af1-rs1 GENE EXPRESSION IN EMBRYONIC STEM CELLS FOLLOWING RA-INDUCED APOPTOSIS [PDF]

TheScientificWorldJOURNAL, 2001
INTRODUCTION. Apoptosis is a genetically controlled, selective cellular death mechanism, which occurs during processes of differentiation and normal cellular development. AB1 embryonic stem cells were employed in our assays, based on previous studies where it was demonstrated that in vitro treatment with retinoic acid (RA) gave rise to apoptosis as ...
N. Andollo, M.D. Boyano, M. Garcia-Sanz, A. Asumendi, M.M. Zalduendo, J. Arechaga   +5 more
openaire   +3 more sources

Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel Mutation

Frontiers in Molecular Neuroscience, 2018
X-linked juvenile retinoschisis (XLRS) is a retinal disease caused by mutations in the gene encoding retinoschisin (RS1), which leads to a significant proportion of visual impairment and blindness.
Ding Chen, Ding Chen, Tao Xu, Tao Xu, Mengjun Tu, Mengjun Tu, Jinlin Xu, Jinlin Xu, Chenchen Zhou, Chenchen Zhou, Lulu Cheng, Lulu Cheng, Ruqing Yang, Tanchu Yang, Weiwei Zheng, Weiwei Zheng, Xiubin He, Xiubin He, Ruzhi Deng, Ruzhi Deng, Xianglian Ge, Xianglian Ge, Jin Li, Jin Li, Zongming Song, Zongming Song, Zongming Song, Junzhao Zhao, Feng Gu, Feng Gu   +29 more
doaj   +1 more source