to aberrant splicing patternsleadingto aberrant splicing patterns

to exon skipping cleadingto exon skipping c

exon skipping ( 35causingexon skipping ( 35

in ( multi)exon skippingresultingin ( multi)exon skipping

to in frame exon skipping.12 From our own mutation screening in retinoblastoma familiesleadingto in frame exon skipping.12 From our own mutation screening in retinoblastoma families

exon skipping without frameshiftcausingexon skipping without frameshift

to aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention [ 20usually leadto aberrant pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention [ 20

aberrant splicing , such as exon skipping or intron retention , and mutations in promoter sequences can result in altered gene expressionto causeaberrant splicing , such as exon skipping or intron retention , and mutations in promoter sequences can result in altered gene expression

exon skipping leading to aberrant , out of frame transcriptscausedexon skipping leading to aberrant , out of frame transcripts

exon skipping occur at around the frequencycauseexon skipping occur at around the frequency

within the genome to induce exon skippingare createdwithin the genome to induce exon skipping

to exon - skipping or activation of cryptic splice sites ... 24]–[26can leadto exon - skipping or activation of cryptic splice sites ... 24]–[26

to abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retention [ 25usually leadto abnormal pre - mRNA splicing , which results in exon skipping , activation of cryptic splice sites , creation of pseudo - exons within introns , and intron retention [ 25

to a limited array of products , including exon skipping , use of cryptic splice - acceptor or -donor sites , and intron inclusionleadto a limited array of products , including exon skipping , use of cryptic splice - acceptor or -donor sites , and intron inclusion

to exon skipping or utilization of cryptic acceptor - splice sitesledto exon skipping or utilization of cryptic acceptor - splice sites

optiond part ... in exon - skipping in more 3 positions in the generesultoptiond part ... in exon - skipping in more 3 positions in the gene

either cryptic splice site usage or exon skippingcan causeeither cryptic splice site usage or exon skipping

in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention , among which exon skipping is the most frequent outcome [ 32to resultin exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention , among which exon skipping is the most frequent outcome [ 32

in exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention , among which exon skipping is the most frequent outcome [ 38to resultin exon skipping , activation of cryptic splice sites , creation of a pseudo - exon within an intron , or intron retention , among which exon skipping is the most frequent outcome [ 38

Transcription - coupled RNA surveillance in human genetic diseases(passive) caused byTranscription - coupled RNA surveillance in human genetic diseases

skipping of exon 3 ( 22causesskipping of exon 3 ( 22

to improper splicing and the production of aberrant proteinscan leadto improper splicing and the production of aberrant proteins

to complete skipping of exon 3 of MRAPleadto complete skipping of exon 3 of MRAP

in skipping of exon 3 during the pre - mRNA splicingresultingin skipping of exon 3 during the pre - mRNA splicing

abnormal splicing events(passive) caused byabnormal splicing events

in incorrect splicing of the mRNA which leads to either exon skipping or addition of extra region to the final productresultin incorrect splicing of the mRNA which leads to either exon skipping or addition of extra region to the final product

animal models for human genetic diseases(passive) caused byanimal models for human genetic diseases

exon skipping and lead to the loss of RNA expression , which suggest that haploinsufficiency is the most likely underlying molecular mechanism.3 4can causeexon skipping and lead to the loss of RNA expression , which suggest that haploinsufficiency is the most likely underlying molecular mechanism.3 4

approximately 15 % of human genetic diseases [ 3causeapproximately 15 % of human genetic diseases [ 3

Rrp6-mediatedcauseRrp6-mediated

autosomal dominant congenital cataract ( ADCC ) with “ snail - like ” phenotype in a large Chinese family ( our laboratorycausingautosomal dominant congenital cataract ( ADCC ) with “ snail - like ” phenotype in a large Chinese family ( our laboratory

to either exon skipping or retention of intronic sequences through the use of cryptic splice sites comprised of non - classical splicing signalsto leadto either exon skipping or retention of intronic sequences through the use of cryptic splice sites comprised of non - classical splicing signals

abnormal splicing of hERG mRNA(passive) caused byabnormal splicing of hERG mRNA

to in - frame exonic deletions as well as in - frame deletionsleadingto in - frame exonic deletions as well as in - frame deletions

to the production of more than one abnormal splicing productleadingto the production of more than one abnormal splicing product

in deletion of exon 4resultedin deletion of exon 4

deletion of exon 41causingdeletion of exon 41

to haploinsufficiency of EXT2 mRNAleadsto haploinsufficiency of EXT2 mRNA

Retinal degenerations and other genetic diseases(passive) are often caused byRetinal degenerations and other genetic diseases

skipping of exon 3 ... and thereby omission of 28 amino acids from DNAL4 proteincausedskipping of exon 3 ... and thereby omission of 28 amino acids from DNAL4 protein