4.5 Article

Splice-disrupt genomic variants in prostate cancer

Related references

Note: Only part of the references are listed.
Article Cell Biology

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.

Summary: This study reveals a distinct pattern of evolution in the leader sequence of SARS-CoV-2 and identifies several microRNAs with stable binding energy against coronaviruses, including hsa-MIR-5004-3p which targets both SARS and SARS-CoV-2 with reduced stability in the latter. Lack of innate human inhibitory microRNAs binding to the leader sequence of SARS-CoV-2 may contribute to its high replication in infected human cells.

CELLS (2021)

Review Cell & Tissue Engineering

Alternative RNA splicing in stem cells and cancer stem cells: Importance of transcript-based expression analysis

Esmaeil Ebrahimie et al.

Summary: Alternative RNA splicing leads to the assembly of different protein isoforms with distinct functions, some of which play key roles in maintaining stem cell and cancer stem cell properties. Splicing events regulate the self-renewal features in CSCs to maintain stemness and increase self-renewal properties and pluripotency in CSCs.

WORLD JOURNAL OF STEM CELLS (2021)

Article Cell Biology

Cervical cancer development, chemoresistance, and therapy: a snapshot of involvement of microRNA

Tandrima Mitra et al.

Summary: Studies have shown the significant role of miRNAs in the pathogenesis and treatment of cervical cancer, serving as diagnostic markers and aiding in overcoming chemoresistance.

MOLECULAR AND CELLULAR BIOCHEMISTRY (2021)

Article Biochemistry & Molecular Biology

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.

Summary: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder caused by enzymatic errors in lipid metabolism. It is characterized by skeletal muscle myopathy, variable cardiac and hepatic involvement, with mutations in the PNPLA2 gene being the underlying cause. Clinical presentation often includes early onset muscle weakness, particularly in the upper limbs, with a slowly evolving course over time.

GENES & DISEASES (2021)

Article Genetics & Heredity

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)

Article Endocrinology & Metabolism

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

Rocio Rius et al.

MOLECULAR GENETICS AND METABOLISM (2019)

Article Genetics & Heredity

An epigenome-wide association study of sex-specific chronological ageing

Daniel L. McCartney et al.

GENOME MEDICINE (2019)

Review Biotechnology & Applied Microbiology

Splicing mutations in human genetic disorders: examples, detection, and confirmation

Anna Abramowicz et al.

JOURNAL OF APPLIED GENETICS (2018)

Article Multidisciplinary Sciences

A novel hypothesis-unbiased method for Gene Ontology enrichment based on transcriptome data

Mario Fruzangohar et al.

PLOS ONE (2017)

Article Biochemical Research Methods

SIFT missense predictions for genomes

Robert Vaser et al.

NATURE PROTOCOLS (2016)

Review Biochemistry & Molecular Biology

Towards Stratified Medicine in Plasma Cell Myeloma

Philip Egan et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2016)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Review Biochemistry & Molecular Biology

Hallmarks of alternative splicing in cancer

S. Oltean et al.

ONCOGENE (2014)

Article Biochemistry & Molecular Biology

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)

Article Biochemistry & Molecular Biology

SIFT web server: predicting effects of amino acid substitutions on proteins

Ngak-Leng Sim et al.

NUCLEIC ACIDS RESEARCH (2012)

Article Biochemistry & Molecular Biology

An ESRP-regulated splicing programme is abrogated during the epithelial-mesenchymal transition

Claude C. Warzecha et al.

EMBO JOURNAL (2010)

Article Biochemistry & Molecular Biology

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)

Article Biochemical Research Methods

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)

Review Pharmacology & Pharmacy

Ariadne's ChemEffect and Pathway Studio knowledge base

Anton Yuryev et al.

EXPERT OPINION ON DRUG DISCOVERY (2009)

Review Medicine, Research & Experimental

The basics of epithelial-mesenchymal transition

Raghu Kalluri et al.

JOURNAL OF CLINICAL INVESTIGATION (2009)

Article Biochemistry & Molecular Biology

Cancer-associated regulation of alternative splicing

Julian P. Venables et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)

Article Multidisciplinary Sciences

Alternative isoform regulation in human tissue transcriptomes

Eric T. Wang et al.

NATURE (2008)

Review Oncology

Alternative splicing: an emerging topic in molecular and clinical oncology

Maria J. Pajares et al.

LANCET ONCOLOGY (2007)

Review Genetics & Heredity

Function of alternative splicing

S Stamm et al.

Article Genetics & Heredity

Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption

P Lastella et al.

JOURNAL OF MEDICAL GENETICS (2004)

Article Biochemical Research Methods

MedScan, a natural language processing engine for MEDLINE abstracts

S Novichkova et al.

BIOINFORMATICS (2003)

Article Biochemical Research Methods

Pathway studio - the analysis and navigation of molecular networks

A Nikitin et al.

BIOINFORMATICS (2003)

Article Genetics & Heredity

Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers

IP Gorlov et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Biochemistry & Molecular Biology

Human non-synonymous SNPs: server and survey

V Ramensky et al.

NUCLEIC ACIDS RESEARCH (2002)

Article Biochemistry & Molecular Biology

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)

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)