Results 11 to 20 of about 15,770 (195)

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family [PDF]

Eye (Lond), 2014
X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. This study aimed to identify the underlying genetic defect in a Chinese family with XLRS.The proband underwent complete ophthalmic examinations,
Huang Y, Mei L, Gui B, Su W, Liang D, Wu L, Pan Q.   +6 more
europepmc   +7 more sources

Case Report: Preventing X-linked retinoschisis transmission via MARSALA-based PGT-M [PDF]

Frontiers in Ophthalmology
X-linked retinoschisis (XLRS) is an X-linked recessive inherited retinal disease caused by mutations in the RS1 gene. This case report describes the successful application of preimplantation genetic testing for monogenic diseases (PGT-M) to prevent the ...
Jieliang Li, Xiaojun Wen, Zhanhui Ou, Xiaowu Fang, Jing Du, Xiufeng Lin, Xiufeng Lin, Wanna Ke, Jiaqi Wu, Nengqing Liu   +9 more
doaj   +2 more sources

Retinal detachment associated with the splice site mutation c.53-1G>A in the gene: A case report and review of the literature [PDF]

SAGE Open Medical Case Reports
Retinoschisin protein is mainly produced in the retina, with minimal expression in other tissues. It is located on the surface of the photoreceptor inner segments and bipolar cells.
Jia Meng, Shanjun Cai, Gang Su
doaj   +2 more sources

Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development. [PDF]

Dev Neurobiol
ABSTRACT Deficiency in the retinoschisin protein (RS1) causes X‐linked juvenile retinoschisis (XLRS), a retinal degenerative disease that disrupts retinal layers and forms cystic cavities. In addition to its structural function, RS1 is believed to play a role in retinal development.
van der Veen I, Koster C, Brink JBT, Kamermans M, Boon CJF.   +4 more
europepmc   +2 more sources

Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy

Stem Cell Research & Therapy
Background X-linked juvenile retinoschisis (XLRS) is an inherited disease caused by RS1 gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1-associated retinal degeneration is not fully understood.
Chunwen Duan, Chengcheng Ding, Xihao Sun, Shengru Mao, Yuqin Liang, Xinyu Liu, Xiaoyan Ding, Jiansu Chen, Shibo Tang   +8 more
doaj   +2 more sources

Microglial phagocytosis of bipolar cells triggers inner retinal degeneration in Rs1-KO mice [PDF]

Cell Communication and Signaling
Background X-linked juvenile retinoschisis (XLRS) is a hereditary retinal disorder caused by mutations in the RS1 gene that leads to the formation of cavities in the inner nuclear layer (INL) and progressive vision loss, characterized by a ...
Jin Young Yang, Hun Soo Chang, Ye Ji Kim, Sumin An, Hyo Song Park, Jin Ha Kim, Jung Woo Han, Sun-Sook Paik, Jungmook Lyu, In-Beom Kim, Tae Kwann Park   +10 more
doaj   +2 more sources

Ultrasound Controlled-Release Hydrogel Promotes Diabetic Wound Healing via Neuroimmune Modulation and Synergistic ROS Scavenging. [PDF]

Adv Sci (Weinh)
This study presents an ultrasound‐responsive hydrogel (MCF@CA) that co‐delivers a neuropeptide (CGRP) and a ROS‐scavenging manganese porphyrin to diabetic wounds. The system restores neuro‐immune communication, reprograms macrophages toward an anti‐inflammatory phenotype, and clears excess ROS, thereby accelerating wound closure and promoting mature ...
Li M, Wang M, Wang H, Sun Y, Zhang Y, Xu S, Zhang T, Shama S, Liang X, Wang S.   +9 more
europepmc   +2 more sources

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis. [PDF]

Intractable Rare Dis Res, 2012
The purpose of our study was to identify the mutations in the retinoschisis 1 (RS1) gene, which was associated with X-linked retinoschisis (XLRS) in a four-generation Chinese family, and to provide the theoretical basis for gene diagnosis and gene therapy. Genomic DNA was extracted from peripheral leukocytes. All six exons and flanking intronic regions
Hou Q, Chu Y, Guo Q, Wu D, Liao S.
europepmc   +4 more sources

Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice

Molecular Therapy: Methods & Clinical Development, 2016
X-linked retinoschisis (XLRS) is a retinal disease caused by mutations in the gene encoding the protein retinoschisin (RS1) and is one of the most common causes of macular degeneration in young men.
Dario Marangoni, Ronald A Bush, Yong Zeng, Lisa L Wei, Lucia Ziccardi, Camasamudram Vijayasarathy, Joshua T Bartoe, Kiran Palyada, Maria Santos, Suja Hiriyanna, Zhijian Wu, Peter Colosi, Paul A Sieving   +12 more
doaj   +3 more sources

Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation

Stem Cell Research
X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutation in RS1 gene. Due to limited cell sources available for studying retinal disease, patient-derived induced pluripotent stem cells (iPSCs) offer an essential resource for ...
Sang-Yun Kim, Yong-Min Choi, Yunho Park, Seung-Hyun Kim, Hyun Beom Song, Jeong Hun Kim, Ok-Seon Kwon, Kyung-Sook Chung   +7 more
doaj   +3 more sources