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注意：仅列出部分参考文献，下载原文获取全部文献信息。Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
M. Stemerdink et al.
HUMAN GENETICS (2022)
Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome
Liying Liang et al.
STEM CELL RESEARCH (2022)
Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa
Carla Sanjurjo-Soriano et al.
STEM CELL RESEARCH (2022)
Usher Syndrome
Alessandro Castiglione et al.
AUDIOLOGY RESEARCH (2022)
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome
Talah T. Wafa et al.
CLINICAL GENETICS (2021)
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene
Khine Zaw et al.
STEM CELL RESEARCH (2021)
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations
Kalyan Dulla et al.
MOLECULAR THERAPY (2021)
Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants
Tian Zhu et al.
STEM CELL RESEARCH (2021)
Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells
Xuezhong Liu et al.
GENES (2021)
Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles
Carla Sanjurjo-Soriano et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2020)
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa
Marianthi Karali et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
RNA-Targeting CRISPR-Cas Systems and Their Applications
Michal Burmistrz et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Oral N-acetylcysteine improves cone function in retinitis pigmentosa patients in phase I trial
Peter A. Campochiaro et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
CRISPR TREATMENT INSERTED DIRECTLY INTO BODY FOR THE FIRST TIME
Heidi Ledford
NATURE (2020)
Genome editing with CRISPR-Cas nucleases, base editors, transposases and prime editors
Andrew V. Anzalone et al.
NATURE BIOTECHNOLOGY (2020)
Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene
Samuel McLenachan et al.
STEM CELL RESEARCH (2019)
Gene Transfer with AAV9-PHP.B Rescues Hearing in a Mouse Model of Usher Syndrome 3A and Transduces Hair Cells in a Non-human Primate
Bence Gyorgy et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2019)
Modeling Retinitis Pigmentosa: Retinal Organoids Generated From the iPSCs of a Patient With the USH2A Mutation Show Early Developmental Abnormalities
Yonglong Guo et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2019)
Cochlear histopathology in human genetic hearing loss: State of the science and future prospects
Krishna Bommakanti et al.
HEARING RESEARCH (2019)
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
J. Kim et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Genetics of Usher Syndrome: New Insights From a Meta-analysis
Guillaume Jouret et al.
OTOLOGY & NEUROTOLOGY (2019)
Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene
Marina Riera et al.
STEM CELL RESEARCH (2019)
A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains
Weiming Yan et al.
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2018)
Usherin defects lead to early-onset retinal dysfunction in zebrafish
Margo Dona et al.
EXPERIMENTAL EYE RESEARCH (2018)
Triple Vectors Expand AAV Transfer Capacity in the Retina
Andrea Maddalena et al.
MOLECULAR THERAPY (2018)
UniProt: the universal protein knowledgebase (vol 45, pg D158, 2017)
Alexandre Renaux
NUCLEIC ACIDS RESEARCH (2018)
Generation of an iPS cell line via a non-integrative method using urine-derived cells from a patient with USH2A-associated retinitis pigmentosa
Yonglong Guo et al.
STEM CELL RESEARCH (2018)
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G > T; p.Cys759Phe in the USH2A gene
Francisco Zurita-Diaz et al.
STEM CELL RESEARCH (2018)
Generating inner ear organoids containing putative cochlear hair cells from human pluripotent stem cells
Minjin Jeong et al.
CELL DEATH & DISEASE (2018)
Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa
Carla Sanjurjo-Soriano et al.
STEM CELL RESEARCH (2018)
Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2
Carla Sanjurjo-Soriano et al.
STEM CELL RESEARCH (2018)
Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A
Ralph Slijkerman et al.
ZEBRAFISH (2018)
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Stephen Russell et al.
LANCET (2017)
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c
Bifeng Pan et al.
NATURE BIOTECHNOLOGY (2017)
Generation of inner ear organoids containing functional hair cells from human pluripotent stem cells
Karl R. Koehler et al.
NATURE BIOTECHNOLOGY (2017)
Usher's Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation
Giuseppe Magliulo et al.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY (2017)
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life
Bas P. Hartel et al.
OTOLOGY & NEUROTOLOGY (2017)
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G
Alice Emptoz et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Evaluating Efficiencies of Dual AAV Approaches for Retinal Targeting
Livia S. Carvalho et al.
FRONTIERS IN NEUROSCIENCE (2017)
USH2A Gene Editing Using the CRISPR System
Carla Fuster-Garcia et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2017)
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa
Laurence H. M. Pierrache et al.
OPHTHALMOLOGY (2016)
The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome
Lu Yao et al.
PLOS ONE (2016)
Functional development of mechanosensitive hair cells in stem cell-derived organoids parallels native vestibular hair cells
Xiao-Ping Liu et al.
NATURE COMMUNICATIONS (2016)
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation
Radulfus WN Slijkerman et al.
Molecular Therapy-Nucleic Acids (2016)
Is There Excess Oxidative Stress and Damage in Eyes of Patients with Retinitis Pigmentosa?
Peter A. Campochiaro et al.
ANTIOXIDANTS & REDOX SIGNALING (2015)
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
Eva Lenassi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Identification of extracellularly phosphorylated membrane proteins
Sandra Burghoff et al.
PROTEOMICS (2015)
Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients
Fiona Blanco-Kelly et al.
JAMA OPHTHALMOLOGY (2015)
Off-target Effects in CRISPR/Cas9-mediated Genome Engineering
Xiao-Hui Zhang et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2015)
Photoreceptor Sensory Cilium: Traversing the Ciliary Gate
Hemant Khanna
CELLS (2015)
Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots
David Baux et al.
HUMAN MUTATION (2014)
Whirlin and PDZ Domain-containing 7 (PDZD7) Proteins Are Both Required to Form the Quaternary Protein Complex Associated with Usher Syndrome Type 2
Qian Chen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Dual Adeno-Associated Virus Vectors Result in Efficient In Vitro and In Vivo Expression of an Oversized Gene, MYO7A
Frank M. Dyka et al.
HUMAN GENE THERAPY METHODS (2014)
Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
Kane L. Greer et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2014)
CRISPR-Mediated Modular RNA-Guided Regulation of Transcription in Eukaryotes
Luke A. Gilbert et al.
CELL (2013)
Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus
V. S. Lopes et al.
GENE THERAPY (2013)
Expressivity of hearing loss in cases with Usher syndrome type IIA
Andre M. Sadeghi et al.
INTERNATIONAL JOURNAL OF AUDIOLOGY (2013)
CRISPR interference (CRISPRi) for sequence-specific control of gene expression
Matthew H. Larson et al.
NATURE PROTOCOLS (2013)
Myosin7a Deficiency Results in Reduced Retinal Activity Which Is Improved by Gene Therapy
Pasqualina Colella et al.
PLOS ONE (2013)
Altered Antioxidant-Oxidant Status in the Aqueous Humor and Peripheral Blood of Patients with Retinitis Pigmentosa
Cristina Martinez-Fernandez de la Camara et al.
PLOS ONE (2013)
Current understanding of usher syndrome type II
Jun Yang et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2012)
Usher Syndrome Type 2 Caused by Activation of an USH2A Pseudoexon: Implications for Diagnosis and Therapy
Christel Vache et al.
HUMAN MUTATION (2012)
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice
Iman Sahly et al.
JOURNAL OF CELL BIOLOGY (2012)
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
William J. Kimberling et al.
GENETICS IN MEDICINE (2010)
Nasal Epithelial Cells are a Reliable Source to Study Splicing Variants in Usher Syndrome
Christel Vache et al.
HUMAN MUTATION (2010)
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
Inga Ebermann et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss
Jun Yang et al.
PLOS GENETICS (2010)
Update on Usher syndrome
Zubin Saihan et al.
CURRENT OPINION IN NEUROLOGY (2009)
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
Mounira Hmani-Aifa et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
Erwin van Wijk et al.
HUMAN MOLECULAR GENETICS (2009)
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
Bo Dreyer et al.
HUMAN MUTATION (2008)
Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
David S. Williams
VISION RESEARCH (2008)
Antioxidants slow photoreceptor cell death in mouse models of retinitis pigmentosa
Keiichi Komeima et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2007)
Molecular and in sillico analyses of the full-length isoform of usherlin identify new pathogenic alleles in usher type II patients
David Baux et al.
HUMAN MUTATION (2007)
Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript
Steve D. Wilton et al.
MOLECULAR THERAPY (2007)
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
Nicolas Michalski et al.
JOURNAL OF NEUROSCIENCE (2007)
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
Xiaoqing Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Antioxidants reduce cone cell death in a model of retinitis pigmentosa
Keiichi Komeima et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Molecular basis of human Usher syndrome:: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
Jan Reiners et al.
EXPERIMENTAL EYE RESEARCH (2006)
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
E van Wijk et al.
HUMAN MOLECULAR GENETICS (2006)
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
J Reiners et al.
HUMAN MOLECULAR GENETICS (2005)
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
A Adato et al.
HUMAN MOLECULAR GENETICS (2005)
Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes
G Battacharya et al.
BIOCHEMISTRY (2005)
Oxidative damage is a potential cause of cone cell death in retinitis pigmentosa
JK Shen et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2005)
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
E van Wijk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure
G Bhattacharya et al.
JOURNAL OF CELL SCIENCE (2004)
Pure tone hearing thresholds and speech recognition scores in dutch patients carrying mutations in the USH2A gene
RJE Pennings et al.
OTOLOGY & NEUROTOLOGY (2003)
Intravitreal injection of adeno-associated viral vectors results in the transduction of different types of retinal neurons in neonatal and adult rats: A comparison with lentiviral vectors
AR Harvey et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2002)
Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome-type IIa
G Bhattacharya et al.
HEARING RESEARCH (2002)
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation
B Dreyer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
PDZ domains and the organization of supramolecular complexes
M Sheng et al.
ANNUAL REVIEW OF NEUROSCIENCE (2001)
Missense mutation in the USH2A gene:: Association with recessive retinitis pigmentosa without hearing loss
C Rivolta et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Genomic structure and identification of novel mutations in Usherin, the gene responsible for Usher syndrome type IIa
MD Weston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
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