Cargando…

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa

Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, and 15–25% of RP is transmitted as an autosomal dominant (ad) trait. The objectives of this study were to establish the variant profile in a large cohort of adRP families and to elucidate the variant spectrum of each a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xiao, Ting, Xie, Yue, Zhang, Xin, Xu, Ke, Zhang, Xiaohui, Jin, Zi-Bing, Li, Yang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7882618/ https://www.ncbi.nlm.nih.gov/pubmed/33598457 http://dx.doi.org/10.3389/fcell.2020.629994

Ejemplares similares

Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss
por: Huang, Yanxia, et al.
Publicado: (2023)

Patient-Specific Retinal Organoids Recapitulate Disease Features of Late-Onset Retinitis Pigmentosa
por: Gao, Mei-Ling, et al.
Publicado: (2020)

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

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

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

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
por: Zhang, Tao, et al.
Publicado: (2021)

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

Acute and Protracted Cell Death in Light-Induced Retinal Degeneration in the Canine Model of Rhodopsin Autosomal Dominant Retinitis Pigmentosa
por: Sudharsan, Raghavi, et al.
Publicado: (2017)

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

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration
por: Ratnapriya, Rinki, et al.
Publicado: (2021)

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

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

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

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)

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)

Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort
por: Xu, Ke, et al.
Publicado: (2021)

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

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family
por: Vaclavik, Veronika, et al.
Publicado: (2022)

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

Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa
por: Wang, Le, et al.
Publicado: (2020)

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
por: Strom, Samuel P., et al.
Publicado: (2016)

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population
por: Zhang, Lujia, et al.
Publicado: (2021)

Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina
por: Padiath, Quasar S.
Publicado: (2019)

Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa
por: Abdulridha-Aboud, Wissam, et al.
Publicado: (2016)

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)

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

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

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)

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned
por: Almoguera, Berta, et al.
Publicado: (2015)

Stem cells set their sights on retinitis pigmentosa
por: Bennicelli, Jeannette L, 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)

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

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
por: Yang, Chunbo, 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)

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

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa
por: Kiang, Anna-Sophia, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_d01fg18ms2neaqrdmu18gj58bh