相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants
Nicole Weisschuh et al.
PLOS ONE (2021)
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity
Juan Manuel Chao de la Barca et al.
HUMAN MOLECULAR GENETICS (2020)
In or Out? New Insights on Exon Recognition through Splice-Site Interdependency
Mubeen Khan et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Structural insights into G domain dimerization and pathogenic mutation of OPA1
Caiting Yu et al.
JOURNAL OF CELL BIOLOGY (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson et al.
HUMAN GENETICS (2020)
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
Bastien Le Roux et al.
ORPHANET JOURNAL OF RARE DISEASES (2019)
A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family
Shaoyi Mei et al.
JOURNAL OF OPHTHALMOLOGY (2019)
Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan et al.
CELL (2019)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides
Sidi Zhang et al.
GENOME RESEARCH (2018)
Splicing mutations in human genetic disorders: examples, detection, and confirmation
Anna Abramowicz et al.
JOURNAL OF APPLIED GENETICS (2018)
OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model
Emmanuelle Sarzi et al.
SCIENTIFIC REPORTS (2018)
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models
Valentina Del Dotto et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2018)
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Alejandro Moles-Fernandez et al.
FRONTIERS IN GENETICS (2018)
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions
Valentina Del Dotto et al.
CELL REPORTS (2017)
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Johan T. den Dunnen et al.
HUMAN MUTATION (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
In silico tools for splicing defect prediction: a survey from the viewpoint of end users
Xueqiu Jian et al.
GENETICS IN MEDICINE (2014)
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
Matthew Mort et al.
GENOME BIOLOGY (2014)
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%
Gitte J. Almind et al.
BMC MEDICAL GENETICS (2012)
Guidelines for Splicing Analysis in Molecular Diagnosis Derived from a Set of 327 Combined In Silico/In Vitro Studies on BRCA1 and BRCA2 Variants
Claude Houdayer et al.
HUMAN MUTATION (2012)
NIH Image to ImageJ: 25 years of image analysis
Caroline A. Schneider et al.
NATURE METHODS (2012)
Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
Fabian Sievers et al.
MOLECULAR SYSTEMS BIOLOGY (2011)
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
Kian Huat Lim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
The VSGB 2.0 model: A next generation energy model for high resolution protein structure modeling
Jianing Li et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2011)
Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu-Wai-Man et al.
BRAIN (2010)
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau et al.
BRAIN (2008)
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
Claudia Zanna et al.
BRAIN (2008)
Structural model of the OPAL GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy
Sharareh Dadgar et al.
EXPERIMENTAL EYE RESEARCH (2006)
OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion
Christian Frezza et al.
CELL (2006)
Mitochondrial dynamics and disease, OPA1
Aurelien Olichon et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2006)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
A Olichon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
L Cartegni et al.
NATURE REVIEWS GENETICS (2002)
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
UEA Pesch et al.
HUMAN MOLECULAR GENETICS (2001)
GeneSplicer: a new computational method for splice site prediction
M Pertea et al.
NUCLEIC ACIDS RESEARCH (2001)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
Analysis of canonical and non-canonical splice sites in mammalian genomes
M Burset et al.
NUCLEIC ACIDS RESEARCH (2000)
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
C Delettre et al.
NATURE GENETICS (2000)
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
C Alexander et al.
NATURE GENETICS (2000)
分享论文
