Related references
Note: Only part of the references are listed.A Transcription Regulatory Sequence in the 5′ Untranslated Region of SARS-CoV-2 Is Vital for Virus Replication with an Altered Evolutionary Pattern against Human Inhibitory MicroRNAs
Manijeh Mohammadi-Dehcheshmeh et al.
CELLS (2021)
Alternative RNA splicing in stem cells and cancer stem cells: Importance of transcript-based expression analysis
Esmaeil Ebrahimie et al.
WORLD JOURNAL OF STEM CELLS (2021)
Cervical cancer development, chemoresistance, and therapy: a snapshot of involvement of microRNA
Tandrima Mitra et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2021)
A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
Daniela Tavian et al.
GENES & DISEASES (2021)
Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype
Loann Raud et al.
TRANSFUSION (2019)
Aberrant expression of alternative splicing variants in multiple sclerosis - A systematic review
Michael Hecker et al.
AUTOIMMUNITY REVIEWS (2019)
Characterization of the c.793-1G>A splicing variant in CHEK2 gene as pathogenic: a case report
Konstantinos Agiannitopoulos et al.
BMC MEDICAL GENETICS (2019)
A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency
Sara Al-Khawaga et al.
FRONTIERS IN PEDIATRICS (2019)
Non-coding and coding genomic variants distinguish prostate cancer, castration-resistant prostate cancer, familial prostate cancer, and metastatic castration-resistant prostate cancer from each other
Ibrahim O. Alanazi et al.
MOLECULAR CARCINOGENESIS (2019)
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child
Rocio Rius et al.
MOLECULAR GENETICS AND METABOLISM (2019)
STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets
Damian Szklarczyk et al.
NUCLEIC ACIDS RESEARCH (2019)
An epigenome-wide association study of sex-specific chronological ageing
Daniel L. McCartney et al.
GENOME MEDICINE (2019)
Splicing mutations in human genetic disorders: examples, detection, and confirmation
Anna Abramowicz et al.
JOURNAL OF APPLIED GENETICS (2018)
Inhibition of CD45 Phosphatase Activity Induces Cell Cycle Arrest and Apoptosis of CD45+ Lymphoid Tumors Ex Vivo and In Vivo
Michael Perron et al.
MOLECULAR PHARMACOLOGY (2018)
Cathepsin F Knockdown Induces Proliferation and Inhibits Apoptosis in Gastric Cancer Cells
Ce Ji et al.
ONCOLOGY RESEARCH (2018)
SpliceDetector: a software for detection of alternative splicing events in human and model organisms directly from transcript IDs
Mandana Baharlou Houreh et al.
SCIENTIFIC REPORTS (2018)
Functional and radiological outcomes of a minimally invasive surgical approach to monostotic fibrous dysplasia
Mamer S. Rosario et al.
WORLD JOURNAL OF SURGICAL ONCOLOGY (2017)
A novel hypothesis-unbiased method for Gene Ontology enrichment based on transcriptome data
Mario Fruzangohar et al.
PLOS ONE (2017)
SIFT missense predictions for genomes
Robert Vaser et al.
NATURE PROTOCOLS (2016)
Towards Stratified Medicine in Plasma Cell Myeloma
Philip Egan et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2016)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Hallmarks of alternative splicing in cancer
S. Oltean et al.
ONCOGENE (2014)
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
Xiaoming Liu et al.
HUMAN MUTATION (2013)
RBFOX2 Is an Important Regulator of Mesenchymal Tissue-Specific Splicing in both Normal and Cancer Tissues
Julian P. Venables et al.
MOLECULAR AND CELLULAR BIOLOGY (2013)
Comparative GO: A Web Application for Comparative Gene Ontology and Gene Ontology-Based Gene Selection in Bacteria
Mario Fruzangohar et al.
PLOS ONE (2013)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions
Xiaoming Liu et al.
HUMAN MUTATION (2011)
An EMT-Driven Alternative Splicing Program Occurs in Human Breast Cancer and Modulates Cellular Phenotype
Irina M. Shapiro et al.
PLOS GENETICS (2011)
An ESRP-regulated splicing programme is abrogated during the epithelial-mesenchymal transition
Claude C. Warzecha et al.
EMBO JOURNAL (2010)
Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
Sarah E. Flanagan et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2010)
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus
Eugene V. Davydov et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
Ariadne's ChemEffect and Pathway Studio knowledge base
Anton Yuryev et al.
EXPERT OPINION ON DRUG DISCOVERY (2009)
The basics of epithelial-mesenchymal transition
Raghu Kalluri et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
Cancer-associated regulation of alternative splicing
Julian P. Venables et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)
Alternative isoform regulation in human tissue transcriptomes
Eric T. Wang et al.
NATURE (2008)
Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
Qun Pan et al.
NATURE GENETICS (2008)
Interpreting missense variants:: Comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)
Philip A. Chan et al.
HUMAN MUTATION (2007)
Alternative splicing: an emerging topic in molecular and clinical oncology
Maria J. Pajares et al.
LANCET ONCOLOGY (2007)
Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption
P Lastella et al.
JOURNAL OF MEDICAL GENETICS (2004)
MedScan, a natural language processing engine for MEDLINE abstracts
S Novichkova et al.
BIOINFORMATICS (2003)
Pathway studio - the analysis and navigation of molecular networks
A Nikitin et al.
BIOINFORMATICS (2003)
Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers
IP Gorlov et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Human non-synonymous SNPs: server and survey
V Ramensky et al.
NUCLEIC ACIDS RESEARCH (2002)
Modification of alternative splicing of Bcl-x Pre-mRNA in prostate and breast cancer cells - Analysis of apoptosis and cell death
DR Mercatante et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)