Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
about
Aberrant RNA splicing and its functional consequences in cancer cellsSplicing in action: assessing disease causing sequence changesEvolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphismsRecombineering: a homologous recombination-based method of genetic engineeringIn silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.Genomic features defining exonic variants that modulate splicing.Hypertension from targeted ablation of chromogranin A can be rescued by the human orthologModelling human regulatory variation in mouse: finding the function in genome-wide association studies and whole-genome sequencingImpact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.Mouse models of inherited cancer syndromesFirst description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case reportComparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.A comprehensive literature review of haplotyping software and methods for use with unrelated individuals.Patterns and functional implications of rare germline variants across 12 cancer typesMouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects.Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.Bridging the gap from genetic association to functional understanding: the next generation of mouse models of multiple sclerosis.Mouse models of BRCA1 and their application to breast cancer research.Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
P2860
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P2860
Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Aberrant splicing induced by m ...... from a humanized mouse model.
@en
Aberrant splicing induced by m ...... from a humanized mouse model.
@nl
type
label
Aberrant splicing induced by m ...... from a humanized mouse model.
@en
Aberrant splicing induced by m ...... from a humanized mouse model.
@nl
prefLabel
Aberrant splicing induced by m ...... from a humanized mouse model.
@en
Aberrant splicing induced by m ...... from a humanized mouse model.
@nl
P2093
P356
P1476
Aberrant splicing induced by m ...... from a humanized mouse model.
@en
P2093
Betty K Martin
Shyam K Sharan
Srividya Swaminathan
Yongping Yang
P304
P356
10.1093/HMG/DDG222
P577
2003-07-08T00:00:00Z