Cargando…

Exome sequencing in retinal dystrophy patients reveals a novel candidate gene ER membrane protein complex subunit 3

Inherited retinal dystrophies (IRDs) are a heterogeneous group of visual disorders caused by different pathogenic mutations in genes and regulatory sequences. The endoplasmic reticulum (ER) membrane protein complex (EMC) subunit 3 (EMC3) is the core unit of the EMC insertase that integrates the tran...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Yan-Ping, Shen, Ren-Juan, Cheng, You-Min, Zhao, Qingqing, Jin, Kangxin, Jin, Zi-Bing, Zhang, Shaodan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10559921/ https://www.ncbi.nlm.nih.gov/pubmed/37809982 http://dx.doi.org/10.1016/j.heliyon.2023.e20146

Ejemplares similares

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy
por: Shen, Ren-Juan, et al.
Publicado: (2021)

CRX haploinsufficiency compromises photoreceptor precursor translocation and differentiation in human retinal organoids
por: Pan, Deng, et al.
Publicado: (2023)

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
por: Abu-Safieh, Leen, et al.
Publicado: (2013)

Second hit impels oncogenesis of retinoblastoma in patient-induced pluripotent stem cell-derived retinal organoids: direct evidence for Knudson's theory
por: Li, Yan-Ping, et al.
Publicado: (2022)

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing
por: de Castro-Miró, Marta, et al.
Publicado: (2016)

Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy
por: Su, Bing-Nan, et al.
Publicado: (2022)

N-acetylation and phosphorylation of Sec complex subunits in the ER membrane
por: Soromani, Christina, et al.
Publicado: (2012)

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
por: Corton, Marta, et al.
Publicado: (2013)

Loss of the ER membrane protein complex subunit Emc3 leads to retinal bipolar cell degeneration in aged mice
por: Zhu, Xiong, et al.
Publicado: (2020)

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
por: Corton, Marta, et al.
Publicado: (2016)

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
por: Pozo, María González-del, et al.
Publicado: (2014)

Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families
por: Tehreem, Raeesa, et al.
Publicado: (2022)

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa
por: Yi, Zhen, et al.
Publicado: (2020)

Correction: Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
Publicado: (2015)

Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa
por: Wu, Juan, et al.
Publicado: (2014)

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing
por: Xu, Yan, et al.
Publicado: (2015)

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract
por: Jin, Aixia, et al.
Publicado: (2022)

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
por: Rehman, Atta Ur, et al.
Publicado: (2021)

Advances in Regeneration of Retinal Ganglion Cells and Optic Nerves
por: Yuan, Fa, 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)

Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
por: Shi, Jie, et al.
Publicado: (2021)

Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies
por: Riera, Marina, et al.
Publicado: (2017)

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
por: Salmaninejad, Arash, et al.
Publicado: (2020)

Retinal Organoid Technology: Where Are We Now?
por: Zhang, Zuming, et al.
Publicado: (2021)

Necessity and Sufficiency of Ldb1 in the Generation, Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development
por: Xiao, Dongchang, et al.
Publicado: (2018)

Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families
por: Shen, Chang, et al.
Publicado: (2022)

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
por: Otto, Edgar A., et al.
Publicado: (2010)

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide
por: Yang, Tsai-Hsuan, et al.
Publicado: (2023)

Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections
por: Malvasi, Mariaelena, et al.
Publicado: (2023)

Gene therapy in hereditary retinal dystrophy
por: Chien, Jia-Ying, et al.
Publicado: (2022)

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations
por: Tiwari, Amit, et al.
Publicado: (2016)

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies
por: González-del Pozo, María, et al.
Publicado: (2022)

Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities
por: Cukras, Catherine, et al.
Publicado: (2012)

Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China
por: Liu, Yang, et al.
Publicado: (2021)

Modeling retinitis pigmentosa through patient-derived retinal organoids
por: Li, Yan-Ping, et al.
Publicado: (2021)

ER membrane protein complex subunit 6 (EMC6) is a novel tumor suppressor in gastric cancer
por: Wang, Xiaokun, et al.
Publicado: (2017)

Proteomic Analysis of Retinal Mitochondria-Associated ER Membranes Identified Novel Proteins of Retinal Degeneration in Long-Term Diabetes
por: Wang, Joshua J., et al.
Publicado: (2022)

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study
por: Wang, Likun, et al.
Publicado: (2018)

Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing
por: Abu‐Ameerh, Mohammed, et al.
Publicado: (2020)

INHERITED RETINAL DYSTROPHY IN THE RAT
por: Dowling, John E., et al.
Publicado: (1962)

Cannot write session to /tmp/vufind_sessions/sess_cl1s16g4fcq30sa87820caucer