PRPF療法研究会は、PRPF療法に関する臨床、および学術データの構築（臨床症例・エビデンスの蓄積）、並びに本会のプロトコルによる症例報告の共有と蓄積を継続的に行うことで会員相互の技術向上を図り、より安心安全な精度の高いPRPF療法の習得を目的と ...

2023年11月22日 · 视网膜色素变性 （RP）是最常见的IRDs，全球流行率约为1:4000，国内为1/4016~1/3467「1」。 RP 首次由Donders于1855年提出。 RP 是一种进行性疾病，其特征是最初视杆细胞变性，随后视锥细胞变性。 由于视杆光感受器变性，夜盲和周边视野进行性缩窄是RP的常见早期症状，随着时间的推移，视力丧失最终进展到中央视野。 RP已确定的基因突变超过70个。 其遗传方式包括χ连锁遗传、 常染色体隐性 或者显性遗传，也有散发。 大约30-40%的RP …

mRNA前体加工因子 (PRPF)4B激酶属于类CDK激酶家族成员，并且参与mRNA前体剪切和信号转导。 最近，有研究人员观察到了PRPF的超表达可以减少细胞内活性氧种类水平，并且在HCT116人类结肠癌细胞中，可以通过激活细胞存活信号蛋白 NFκB，、ERK、 和 c-MYC抑制白藜 …

Using cells from patients with 10 different mutations, we show that all clinically relevant RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs (snRNAs), the protein composition of tri-small nuclear ribonucleoproteins and the kinetics of spliceosome assembly.

2011年6月1日 · Proteins PRPF31, PRPF3 and PRPF8 (RP-PRPFs) are ubiquitously expressed components of the spliceosome, a macromolecular complex that processes nearly all pre-mRNAs. Although these spliceosomal proteins are conserved in eukaryotes and are essential for survival, heterozygous mutations in human RP-PRPF …

PRPF31 is the second most common cause of autosomal dominant retinitis pigmentosa and a potential target for gene therapy. We present all reported pathogenic variants in PRPF31 as a resource for clinicians, diagnostic genetics labs, and researchers.

2024年12月25日 · PRPF3 (Pre-MRNA Processing Factor 3) is a Protein Coding gene. Diseases associated with PRPF3 include Retinitis Pigmentosa 18 and Retinitis Pigmentosa. Among its related pathways is Processing of Capped Intron-Containing Pre-mRNA. Gene Ontology (GO) annotations related to this gene include RNA binding and identical protein binding.

2022年8月16日 · Mutations in the ubiquitously expressed pre-mRNA processing factor (PRPF) 31 gene, one of the most common causes of dominant form of Retinitis Pigmentosa (RP), lead to a retina-specific...

2022年8月16日 · Mutations in the ubiquitously expressed pre-mRNA processing factor (PRPF) 31 gene, one of the most common causes of dominant form of Retinitis Pigmentosa (RP), lead to a retina-specific phenotype. It is uncertain which retinal cell types are affected and animal models do not clearly present the RP p …

The Society aims to improve the skills of its members by continuously sharing and accumulating clinical and academic data on PRPF®︎ therapy (accumulation of clinical cases and evidence) and case reports based on the Society's protocols, to learn PRPF®︎ therapy that is safer, more secure, and more accurate, and to raise awareness and ...