Splicing regulation as a potential genetic modifier

Trends in Genetics

Volumn 18, Issue 3, 2002, Pages 123-127

  Nissim Rafinia, Malka ^a   Kerem, Batsheva ^a  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE SEVERITY; DNA MODIFICATION; DNA SPLICING; EXON; HUMAN; MUTATION; PHENOTYPE; PRIORITY JOURNAL; REGULATORY MECHANISM; REVIEW;

EID: 0036498543     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(01)02619-1     Document Type: Note

References (59)

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3. Alternative splicing in the control of gene expression
4. Pre-mRNA splicing in the new millennium
5. Alternative pre-mRNA splicing: The logic of combinatorial control
6. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
7. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome
8. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
9. The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C→T mutation
10. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis
11. Testicular CFTR splice variants in patients with congenital absence of the vas deferens
12. Variable levels of normal RNA in different organs carrying the CFTR splicing mutation 3849+10kb C→T
13. Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
14. The association of nonsense codons with exon skipping
15. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
16. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
17. Differential SMN2 expression associated with SMA severity
18. Alternative splicing: Increasing diversity in the proteomic world
19. Analysis of expressed sequence tags indicates 35 000 human genes
20. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
21. Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion
22. A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies
23. Modification of alternative splicing pathways as a potential approach to chemotherapy
24. Soluble CD44 isoforms in serum as potential markers of metastatic gastric carcinoma
25. Stage-specific changes in SR splicing factors and alternative splicing in mammary tumorigenesis
26. Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors
27. Cell type-specific expression of hnRNP proteins
28. Distinct functions of SR proteins in alternative pre-mRNA splicing
29. Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors
30. Pre-mRNA splicing in the absence of an SR protein RS domain
31. The subcellular localization of SF2/ASF is regulated by direct interaction with SR protein kinases (SRPKs)
32. Nucleocytoplasmic shuttling of heterodimeric splicing factor U2AF
33. The dynamics of a pre-mRNA splicing factor in living cells
34. Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations
35. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
36. Regulation of Ich-1 pre-mRNA alternative splicing and apoptosis by mammalian splicing factors
37. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse
38. Expression of antisense CD44 variant 6 inhibits colorectal tumor metastasis and tumor growth in a wound environment
39. Treatment of spinal muscular atrophy by sodium butyrate
40. Effect of sodium butyrate on the expression of genes transduced by retroviral vectors
41. Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3′-splice site selection and cause Sandhoff disease
42. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy
43. Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency
44. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
45. Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors
46. Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus
47. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms
48. Donor splice-site mutations in WT1 are responsible for Frasier syndrome
49. WT1 splicing alterations in Wilms' tumors
50. A BRCA1 nonsense mutation causes exon skipping
51. Increased level of exon 12 alternatively spliced BRCA2 transcripts in tumor breast tissue compared with normal tissue
52. Expression of CD44 adhesion molecules in nonpapillary renal cell carcinoma and normal kidneys
53. Restricted patterns of CD44 variant exon expression in human papillary thyroid carcinoma
54. Aberrant FHIT transcripts in Merkel cell carcinoma
55. FHIT gene alterations in head and neck squamous cell carcinomas
56. Alternative and aberrant messenger RNA splicing of the mdm2 oncogene in invasive breast cancer
57. Expression of alternatively-spliced MDM2 transcripts in giant cell tumours of bone
58. Alternative splicing of fibroblast growth factor receptors in human prostate cancer
59. Mechanism for elimination of a tumor suppressor: Aberrant splicing of a brain-specific exon causes loss of function of Bin1 in melanoma