Cargando…

Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing

Background: The USH2A gene encodes usherin, a basement membrane protein that is involved in the development and homeostasis of the inner ear and retina. Mutations in USH2A are linked to Usher syndrome type II (USH II) and non-syndromic retinitis pigmentosa (RP). Molecular diagnosis can provide insig...

Descripción completa

Detalles Bibliográficos
Autores principales:	Qu, Ling-hui, Jin, Xin, Long, Yan-ling, Ren, Jia-yun, Weng, Chuang-huang, Xu, Hai-wei, Liu, Yong, Meng, Xiao-hong, Li, Shi-ying, Yin, Zheng-qin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2020
Materias:	Molecular Bases of Health & Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974426/ https://www.ncbi.nlm.nih.gov/pubmed/31904091 http://dx.doi.org/10.1042/BSR20193536

Ejemplares similares

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
por: Li, Wei, et al.
Publicado: (2022)

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population
por: Huang, Lulin, et al.
Publicado: (2018)

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa
por: García-García, Gema, et al.
Publicado: (2014)

Secretory Defect and Cytotoxicity: THE POTENTIAL DISEASE MECHANISMS FOR THE RETINITIS PIGMENTOSA (RP)-ASSOCIATED INTERPHOTORECEPTOR RETINOID-BINDING PROTEIN (IRBP)
por: Li, Songhua, et al.
Publicado: (2013)

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
por: Sanjurjo-Soriano, Carla, et al.
Publicado: (2023)

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II
por: Xu, Wenjun, et al.
Publicado: (2011)

Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients
por: Ng, Tsz Kin, et al.
Publicado: (2019)

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
por: Fakin, Ana, et al.
Publicado: (2021)

Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next-generation sequencing
por: Zhu, Xiong, et al.
Publicado: (2020)

Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome
por: Sun, Lynn W., et al.
Publicado: (2016)

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations
por: Dulla, Kalyan, et al.
Publicado: (2021)

Multimodal imaging and genetic characteristics of Chinese patients with USH2A‐associated nonsyndromic retinitis pigmentosa
por: Chen, Chong, et al.
Publicado: (2020)

Retinitis Pigmentosa Sine Pigmento in a Carrier of Usher Syndrome
por: Ayala Rodríguez, Sofía C, et al.
Publicado: (2023)

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families
por: Xing, Dongjun, et al.
Publicado: (2022)

Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
por: Shu, Hai-Rong, et al.
Publicado: (2015)

Novel mutations in the USH1C gene in Usher syndrome patients
por: Aparisi, María José, et al.
Publicado: (2010)

Retinal organoids and microfluidic chip-based approaches to explore the retinitis pigmentosa with USH2A mutations
por: Su, Ting, et al.
Publicado: (2022)

Next-generation genetic testing for retinitis pigmentosa
por: Neveling, Kornelia, et al.
Publicado: (2012)

USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies
por: Falsini, Benedetto, et al.
Publicado: (2021)

Disassembly of Tau fibrils by the human Hsp70 disaggregation machinery generates small seeding-competent species
por: Nachman, Eliana, et al.
Publicado: (2020)

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
por: Huang, Xiu-Feng, et al.
Publicado: (2013)

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
por: Colombo, Leonardo, et al.
Publicado: (2021)

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients
por: Jiang, Lichun, et al.
Publicado: (2015)

Modeling Retinitis Pigmentosa: Retinal Organoids Generated From the iPSCs of a Patient With the USH2A Mutation Show Early Developmental Abnormalities
por: Guo, Yonglong, et al.
Publicado: (2019)

Migfilin Protein Promotes Migration and Invasion in Human Glioma through Epidermal Growth Factor Receptor-mediated Phospholipase C-γ and STAT3 Protein Signaling Pathways
por: Ou, Yunwei, et al.
Publicado: (2012)

ERAD deficiency promotes mitochondrial dysfunction and transcriptional rewiring in human hepatic cells
por: Liu, Qingqing, et al.
Publicado: (2021)

The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria
por: Bhattacharjee, Ashima, et al.
Publicado: (2016)

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report
por: Young, Su Ling, et al.
Publicado: (2022)

Dimerization of the transmembrane domain of amyloid precursor protein is determined by residues around the γ-secretase cleavage sites
por: Yan, Yan, et al.
Publicado: (2017)

Calpain activation mediates microgravity-induced myocardial abnormalities in mice via p38 and ERK1/2 MAPK pathways
por: Liang, Liwen, et al.
Publicado: (2021)

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
por: Ahmed, Asif Naveed, et al.
Publicado: (2021)

EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B: Development of UshStat
por: Zallocchi, Marisa, et al.
Publicado: (2014)

Fused in Sarcoma (FUS) Protein Lacking Nuclear Localization Signal (NLS) and Major RNA Binding Motifs Triggers Proteinopathy and Severe Motor Phenotype in Transgenic Mice
por: Shelkovnikova, Tatyana A., et al.
Publicado: (2013)

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
por: Dai, Hanjun, et al.
Publicado: (2008)

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients
por: Inaba, Akira, et al.
Publicado: (2020)

MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome
por: Sodi, Andrea, et al.
Publicado: (2014)

Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing
por: Lu, Lan, et al.
Publicado: (2016)

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

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa
por: Schellens, Renske T.W., et al.
Publicado: (2023)

Disruption of the ATP-binding Cassette B7 (ABTM-1/ABCB7) Induces Oxidative Stress and Premature Cell Death in Caenorhabditis elegans
por: González-Cabo, Pilar, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_2qj91agqe68gat0hse5hrrr7qc