Information analysis of human splice site mutations

scientific article

Information analysis of human splice site mutations is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/(SICI)1098-1004(1998)12:3<153::AID-HUMU3>3.3.CO;2-O
P3181OpenCitations bibliographic resource ID2386966
P698PubMed publication ID9711873

P2093author name stringP K Rogan
T D Schneider
B M Faux
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectinformation analysisQ59162903
P304page(s)153-71
P577publication date1998-01-01
P1433published inHuman MutationQ5937269
P1476titleInformation analysis of human splice site mutations
P478volume12

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cites work (P2860)
Q57419715A PALB2 germline mutation associated with hereditary breast cancer in Italy
Q35563841A brief review of molecular information theory.
Q44640266A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma
Q24540271A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation
Q40437541A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia
Q40480300A survey of splice variants of the human hypoxanthine phosphoribosyl transferase and DNA polymerase beta genes: products of alternative or aberrant splicing?
Q34521706A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer
Q39113625Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization
Q41902269An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication
Q35658237Anatomy of Escherichia coli sigma70 promoters.
Q37218067Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping
Q37716568Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.
Q24533449Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
Q50456642Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses
Q34974639Claude Shannon: biologist. The founder of information theory used biology to formulate the channel capacity.
Q24683285Consensus sequence Zen
Q36059538Correlation between binding rate constants and individual information of E. coli Fis binding sites
Q24564424Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia
Q38289980Discovery and validation of information theory-based transcription factor and cofactor binding site motifs
Q36357793Discovery of Fur binding site clusters in Escherichia coli by information theory models.
Q24309282Disruption of PTPRO causes childhood-onset nephrotic syndrome
Q35126189Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions
Q36158405Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
Q34248616Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses
Q39812803Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene
Q36111760Exploration of molecular factors impairing superoxide dismutase isoforms activity in human senile cataractous lenses
Q90640119Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing
Q35667416Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies
Q56232628Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures
Q52683033Gene expression, intron density, and splice site strength in Drosophila and Caenorhabditis.
Q24801148Genome-wide prediction, display and refinement of binding sites with information theory-based models
Q34690818Global remodeling of nucleosome positions in C. elegans
Q35621619Haplotype of prostaglandin synthase 2/cyclooxygenase 2 is involved in the susceptibility to inflammatory bowel disease
Q24652427Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred
Q34546846Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans
Q34155922Identification of activated cryptic 5' splice sites using structure profiles and odds measure
Q40088295In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites
Q24812505Information theory based T7-like promoter models: classification of bacteriophages and differential evolution of promoters and their polymerases.
Q35086962Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
Q42773657Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences
Q34963709Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Q37274613Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients
Q24613414Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1
Q36212704Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases
Q34046959Ontogenomic study of the relationship between number of gene splice variants and GO categorization
Q30883650PIN1 gene variants in Alzheimer's disease
Q34211868PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing
Q91641465Pan-cancer repository of validated natural and cryptic mRNA splicing mutations
Q33704900Prediction and assessment of splicing alterations: implications for clinical testing
Q38700951Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia
Q37641177Promoter variants in the MSMB gene associated with prostate cancer regulate MSMB/NCOA4 fusion transcripts
Q57737866Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
Q24561544Sequence information for the splicing of human pre-mRNA identified by support vector machine classification
Q34290755The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function
Q35085116The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms
Q28366874The lac operator-repressor system is functional in the mouse
Q36274384Twenty Years of Delila and Molecular Information Theory: The Altenberg-Austin Workshop in Theoretical Biology Biological Information, Beyond Metaphor: Causality, Explanation, and Unification Altenberg, Austria, 11-14 July 2002.
Q37166644Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families
Q36107483VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans
Q30802918Validation of predicted mRNA splicing mutations using high-throughput transcriptome data
Q35809421Variability of CYP2J2 expression in human fetal tissues
Q36926546Xeroderma pigmentosum-variant patients from America, Europe, and Asia

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