Affiliation: University of Cambridge
- Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS)Diana Baralle
Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, United Kingdom
Am J Med Genet A 119:1-8. 2003..These results show that NFNS can in some cases result from different mutations in the NF1 gene and therefore represents a variant form of NF1...
- Splicing in action: assessing disease causing sequence changesD Baralle
Department of Medical Genetics, Box 134, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, UK
J Med Genet 42:737-48. 2005..The fact that human pathology can provide pointers to new modulatory elements of splicing should be exploited...
- Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonizationM Raponi
Department of Pathology, University of Cambridge, Cambridge, United Kingdom
Hum Mutat 27:294-5. 2006..Significantly an additional single nucleotide change disrupting the cryptic 5'ss consensus sequence rescues the effect of the pathogenetic mutation resulting in normal splicing...
- hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genesEmanuele Buratti
International Centre for Genetic Engineering and Biotechnology, 34012 Trieste, Italy
Nucleic Acids Res 32:4224-36. 2004..Thus, the reason why similar nucleotide substitutions can be either neutral or very disruptive of splicing function can be explained by the presence of specific binding signatures depending on local contexts...
- Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domainC Mattocks
Department of Medical Genetics, Box 134, Addenbrooke s Hospital, Cambridge, UK
J Med Genet 41:e48. 2004
- A prospective study of neurofibromatosis type 1 cancer incidence in the UKL Walker
Department of Medical Genetics, Addenbrookes Hospital, Hills Road, Cambridge CB2 2QQ, UK
Br J Cancer 95:233-8. 2006..27). The most frequent types of cancer were connective tissue (14% risk by age 70, 95% CI 7.8-24%) and brain tumours (7.9, 95% CI 3.9-16%). There was no statistically significant excess of cancers at other sites (P=0.22)...
- Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)Jill Yardley
Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, United Kingdom
Invest Ophthalmol Vis Sci 45:3683-9. 2004..To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos...
- NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 regionMarco Baralle
International Centre for Genetic Engineering and Biotechnology, ICGEB, Padriciano 99, 34012 Trieste, Italy
FEBS Lett 580:4449-56. 2006..This is a unique example of what may be a more general phenomena involved in the tuning of pre-mRNA processing and gene expression modulation in the chromosomal setting...
- A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain sizeJacquelyn Bond
Molecular Medicine Unit, University of Leeds, St James s University Hospital, Beckett Street, Leeds LS9 7TF, UK
Nat Genet 37:353-5. 2005....
- PMS2 mutations in childhood cancerMichel De Vos
University of Leeds, Yorkshire Regional Genetics Service, United Kingdom
J Natl Cancer Inst 98:358-61. 2006..This cancer syndrome can be mistaken for neurofibromatosis type 1, with important management implications including the risk of the disorder occurring in siblings and the likelihood of tumor development in affected individuals...
- Can donor splice site recognition occur without the involvement of U1 snRNP?Michela Raponi
Human Genetics Division, University of Southampton, Duthie Building Mailpoint 808, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK
Biochem Soc Trans 36:548-50. 2008..We suggest that, in clinical molecular genetics, it is important to evaluate sequence variants for aberrant splicing even in those cases where the variant is not thought to alter the U1 snRNA interaction...