Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.
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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated NeuronsSplicing Regulation of Pro-Inflammatory Cytokines and Chemokines: At the Interface of the Neuroendocrine and Immune SystemsA splice mutation in the PHKG1 gene causes high glycogen content and low meat quality in pig skeletal muscleGuidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsAssociation between regulator of G protein signaling 9-2 and body weightThe UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.Role of non-coding sequence variants in cancer.Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genesA novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.Identification of splicing defects caused by mutations in the dysferlin gene.A polymorphism of HMGA1 protects against proliferative diabetic retinopathy by impairing HMGA1-induced VEGFA expression.Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.Estimating the prevalence of functional exonic splice regulatory information.Kinetochore KMN network gene CASC5 mutated in primary microcephaly.Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies.Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.The Changing Landscape of Lynch Syndrome due to PMS2 Mutations.Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.Identification of genetic variants for clinical management of familial colorectal tumors.Identification of Single Nucleotide Non-coding Driver Mutations in Cancer.Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria.
P2860
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P2860
Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Use of splicing reporter minig ...... unclassified genetic variants.
@en
Use of splicing reporter minig ...... unclassified genetic variants.
@nl
type
label
Use of splicing reporter minig ...... unclassified genetic variants.
@en
Use of splicing reporter minig ...... unclassified genetic variants.
@nl
prefLabel
Use of splicing reporter minig ...... unclassified genetic variants.
@en
Use of splicing reporter minig ...... unclassified genetic variants.
@nl
P2093
P1476
Use of splicing reporter minig ...... unclassified genetic variants
@en
P2093
Alexandra Martins
Audrey Killian
Isabelle Tournier
Mario Tosi
Thierry Frébourg
P304
P356
10.1007/978-1-60761-759-4_15
P407
P577
2010-01-01T00:00:00Z