Exon-specific U1s correct SPINK5 exon 11 skipping caused by a synonymous substitution that affects a bifunctional splicing regulatory element

Human Mutation

Volumn 36, Issue 5, 2015, Pages 504-512

  Dal Mas, Andrea ^a   Fortugno, Paola ^b   Donadon, Irving ^a   Levati, Lauretta ^b   Castiglia, Daniele ^b   Pagani, Franco ^a  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

ESE; ESS; LEKTI; SPINK5; Splicing defect; U1 snRNA

Indexed keywords

EXONS PECIFIC U1 SMALL NUCLEAR RIBONUCLEIC ACID; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; LEKTI PROTEIN; NUCLEAR PROTEIN; PROTEIN; PROTEIN TRA2BETA; SMALL NUCLEAR RNA; UNCLASSIFIED DRUG; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HNRNP A1; HNRNP A2; LEUKOCYTE ELASTASE INHIBITOR; MESSENGER RNA; NERVE PROTEIN; PROTEIN BINDING; RNA BINDING PROTEIN; SPINK5 PROTEIN, HUMAN; TRA2B PROTEIN, HUMAN; U1 SMALL NUCLEAR RNA;

ARTICLE; BINDING SITE; CONTROLLED STUDY; ELECTROSPRAY MASS SPECTROMETRY; ENHANCER REGION; EXON; EXON 11; EXON SKIPPING; GENE; GENE OVEREXPRESSION; GENE SILENCING; HUMAN; HUMAN CELL; IMMUNOBLOTTING; KERATINOCYTE; MASS SPECTROMETRY; NETHERTON DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTERACTION ASSAY; PROTEIN RNA BINDING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SERINE PROTEASE INHIBITOR KAZAL TYPE 5 GENE; SILENCER GENE; SPLICING DEFECT; ALTERNATIVE RNA SPLICING; CELL LINE; GENE EXPRESSION; GENETICS; METABOLISM; MUTATION; REGULATORY SEQUENCE;

ALTERNATIVE SPLICING; CELL LINE; EXONS; GENE EXPRESSION; GENE SILENCING; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP A-B; HUMANS; KERATINOCYTES; MUTATION; NERVE TISSUE PROTEINS; NETHERTON SYNDROME; NUCLEAR PROTEINS; PROTEIN BINDING; PROTEINASE INHIBITORY PROTEINS, SECRETORY; REGULATORY SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; RNA, SMALL NUCLEAR; RNA-BINDING PROTEINS;

EID: 84928213104     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22762     Document Type: Article

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