hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

Human Molecular Genetics

Volumn 17, Issue 24, 2008, Pages 4022-4035

  Masuda, Akio ^a   Shen, Xin Ming ^b   Ito, Mikako ^a   Matsuura, Tohru ^a   Engel, Andrew G ^b   Ohno, Kinji ^a,b  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; ADENOSINE; CHOLINESTERASE INHIBITOR; FAS ANTIGEN; GENE PRODUCT; GUANOSINE; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H; NICOTINIC RECEPTOR; NUCLEAR RECEPTOR COACTIVATOR 2; PROTEIN CHRNA1; PROTEIN NRCAM; PROTEIN VSP13C; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; URIDINE;

3' UNTRANSLATED REGION; ADULT; ARTICLE; BINDING AFFINITY; CASE REPORT; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; DOWN REGULATION; EXON; FEMALE; GENE DISRUPTION; GENE IDENTIFICATION; GENE MUTATION; GENE SILENCING; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HUMAN GENOME; HUMAN TISSUE; INTRON; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN MOTIF; RNA SPLICING;

3' FLANKING REGION; ADOLESCENT; AMINO ACID MOTIFS; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; EXONS; FEMALE; HELA CELLS; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP F-H; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MOTOR ENDPLATE; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; POINT MUTATION; PROTEIN BINDING; RECEPTORS, NICOTINIC; RNA SPLICING;

HOMINIDAE;

EID: 57149106806     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn305     Document Type: Article

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