Long mutant dystrophins and variable phenotypes: Evasion of nonsense-mediated decay?

Human Genetics

Volumn 109, Issue 4, 2001, Pages 402-407

  Kerr, Tim P ^a,c   Sewry, Caroline A ^b,c   Robb, Stephanie A ^a,c   Roberts, Roland G ^c,d  

^a GUY S HOSPITAL   (United Kingdom)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

ADOLESCENT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; FRAMESHIFT MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HUMAN; MENTAL DISEASE; MUTANT; NONSENSE MUTATION; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DYSTROPHIN; FRAMESHIFT MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; PHENOTYPE; SEQUENCE DELETION;

EID: 0035168526     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100598     Document Type: Article

References (25)

1. Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts
2. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
3. Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain
4. Nonsense-mediated mRNA decay in health and disease
5. The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
6. Dystrophin nonsense mutation induces different levels by exon 29 skipping and leads to variable phenotypes within one BMD family
7. A perfect message: RNA surveillance and nonsense-mediated decay
8. Mechanisms of mRNA surveillance in eukaryotes
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12. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia
13. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
14. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy
15. Spectrum of small mutations in the dystrophin coding region
16. Nonsense mutations in a Becker muscular dystrophy and an intermediate patient
17. mRNA surveillance by the Caenorhabditis elegans smg genes
18. Point mutations in the dystrophin gene
19. Spatial learning and hippocampal long-term potentiation are not impaired in mdx mice
20. Immunological reagents and amplification systems
21. The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related
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23. Spatial discrimination learning and CA1 hippocampal synaptic plasticity in mdx and mdx3cv mice lacking dystrophin gene products
24. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: Mechanisms of dystrophin production