Cargando…

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

The small nuclear ribonucleoprotein 200 kDa (SNRNP200) gene plays a key role in the maturation of pre-message RNA (pre-mRNA) splicing with the indication for the etiology of retinitis pigmentosa (RP). Gene recognition can facilitate the diagnosis of these patients for better clinical management, tre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Tao, Bai, Jingshan, Zhang, Xinyi, Zheng, Xiaowei, Lu, Nan, Liang, Zhongyin, Lin, Ling, Chen, Yongsong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859630/ https://www.ncbi.nlm.nih.gov/pubmed/33553197 http://dx.doi.org/10.3389/fmed.2020.588991

Ejemplares similares

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
por: Liu, Tiecheng, et al.
Publicado: (2012)

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa
por: Bowne, Sara J., et al.
Publicado: (2013)

SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
por: Liu, Yuan, et al.
Publicado: (2015)

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
por: Bowne, Sara J., et al.
Publicado: (2008)

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
por: Zhong, Zilin, et al.
Publicado: (2016)

Corrigendum: Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
por: Zhong, Zilin, et al.
Publicado: (2017)

Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa
por: Blanco-Kelly, Fiona, et al.
Publicado: (2012)

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa
por: Benaglio, Paola, et al.
Publicado: (2014)

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
por: Van Cauwenbergh, Caroline, et al.
Publicado: (2017)

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
por: Arno, Gavin, et al.
Publicado: (2016)

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa
por: Ma, Xiangyu, et al.
Publicado: (2015)

Gene therapy in animal models of autosomal dominant retinitis pigmentosa
por: Rossmiller, Brian, et al.
Publicado: (2012)

Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa
por: Massengill, Michael T., et al.
Publicado: (2021)

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations
por: Jacobson, Samuel G., et al.
Publicado: (2016)

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
por: Xu, Fei, et al.
Publicado: (2012)

Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa
por: Muthiah, Manickam Nick, et al.
Publicado: (2022)

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa
por: Yu, Xinping, et al.
Publicado: (2016)

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene
por: Ali-Nasser, Tahleel, et al.
Publicado: (2022)

Mutation-independent gene knock-in therapy targeting 5′UTR for autosomal dominant retinitis pigmentosa
por: Hoang, Duc Anh, et al.
Publicado: (2023)

A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
por: Cheng, Jingliang, et al.
Publicado: (2019)

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa
por: Ballios, Brian G., et al.
Publicado: (2021)

Treatment of autosomal dominant retinitis pigmentosa caused by RHO-P23H mutation with high-fidelity Cas13X in mice
por: Yan, Zixiang, et al.
Publicado: (2023)

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa
por: Ezquerra-Inchausti, Maitane, et al.
Publicado: (2017)

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65
por: Jauregui, Ruben, et al.
Publicado: (2020)

Sectoral activation of glia in an inducible mouse model of autosomal dominant retinitis pigmentosa
por: Massengill, Michael T., et al.
Publicado: (2020)

Myriocin Effect on Tvrm4 Retina, an Autosomal Dominant Pattern of Retinitis Pigmentosa
por: Piano, Ilaria, et al.
Publicado: (2020)

Pharmacological strategies for treating misfolded rhodopsin-associated autosomal dominant retinitis pigmentosa
por: Xi, Yibo, et al.
Publicado: (2021)

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa
por: Xiao, Ting, et al.
Publicado: (2021)

Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families
por: Yang, Liping, et al.
Publicado: (2013)

Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa
por: Millington-Ward, Sophia, et al.
Publicado: (2011)

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
por: McGuigan, David B., et al.
Publicado: (2017)

Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing
por: Dias, Miguel de Sousa, et al.
Publicado: (2013)

Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials
por: Sumaroka, Alexander, et al.
Publicado: (2019)

Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
por: Cao, Li, et al.
Publicado: (2020)

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa
por: Liu, Wei, et al.
Publicado: (2021)

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa
por: Sarkar, Hajrah, et al.
Publicado: (2020)

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa
por: Gao, Meng, et al.
Publicado: (2016)

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
por: Fiorentino, Alessia, et al.
Publicado: (2018)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration
por: Lu, Fang, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_74l8rreeb72p8uneouhs151qm5