References

1. Upadhyaya, M.; Cooper, D.N. Facioscapulohumeral Muscular Dystrophy (FSHD). In Clinical Medicine and Molecular Cell Biology; Upadhyaya, M., Cooper, D.N., Eds.; BIOS Scientific Publishers (a member of the Taylor and Francis Group): Oxford, 2004.

2. Wijmenga, C.; Frants, R.R.; Brouwer, O.F.; Moerer, P.; Weber, J.L.; Padberg, G.W. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990, 336, 651-653.

3. Upadhyaya, M.; Lunt, P.W.; Sarfarazi, M.; Broadhead, W.; Daniels, J.; Owen, M.; Harper, P.S. DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease. Lancet 1990, 336, 11211320.

4. Wijmenga, C.; Hewitt, J.E.; Sandkuijl, L.A.; Clark, L.N.; Wright, T.J.; Dauwerse, H.G.; Gruter, A.M.; Hofker, M.H.; Moerer, P.; Williamson, R.; van Ommen, G.J.B.; Padberg, G.W.; Frants, R.R. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat. Genet. 1992, 2, 26-30.

5. van Deutekom, J.C.T.; Wijmenga, C.; van Tienhoven, E.A.E.; Gruter, A.M.; Hewitt, J.E.; Padberg, G.W.; van Ommen, G.J.B.; Hofker, M.H.; Frants, R.R. FSHD

associated DNA rearrangements are due to deletions of integral copies of a 3.3 kb tandemly repeated unit. Hum. Mol. Genet. 1993, 2, 2037 -2042. 15.

6. Deidda, G.; Caccuri, S.; Grisanti, P.; Piazzo, N.; Felicetti, L. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the FSHD locus on chromosome 4qter. Eur. J. Hum. Genet. 16.

7. Hewitt, J.E.; Lyle, R.; Clark, L.N.; Valleley, E.M.; Wright, T.J.; Wijmenga, C.; van Deutekom, J.C.T.; Francis, F.; Sharpe, P.T.; Hofker, M.; Frants, R.R.; Williamson, R. Analysis of tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum. Mol. 17. Genet. 1994, 3, 1287-1295.

8. Lunt, P.W.; Jardine, P.E.; Koch, M.C.; Maynard, J.; Osborn, M.; Williams, M.; Harper, P.S.; Upadhyaya, M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use with a possible generational-effect accounts for much phenotypic variation in 4q35- 18. facioscapulohumeral muscular dystrophy (FSHD). Hum. Mol. Genet. 1995, 4, 951-958.

9. Tupler, R.; Bernardinelli, A.; Barbierato, L.; Frants, R.; Hewitt, J.E.; Lanzi, G.; Maraschio, P.; Tiepolo, L. Monosomy of distal 4q does not cause facioscapulohu- 19. meral muscular dystrophy. J. Med. Genet. 1996, 33, 366370.

10. Deidda, G.; Caccuri, S.; Piazzo, N.; Felicetti, L. Direct detection of 4q35 rearrangements implicated in faciosca- 20. pulohumeral muscular dystrophy (FSHD). J. Med. Genet.

11. van Deutekom, J.C.T.; Bakker, E.; Lemmers, R.J.L.F.; van der Wielen, M.J.R.; Bik, E.; Hofker, M.H.; Padberg, G.W.; Frants, R.R. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 21. 4q35 and 10q26: Implications for genetic counselling and etiology of FSHD1. Hum. Mol. Genet. 1996, 5, 581-590.

12. Van der Maarel, S.; Deidda, S.M.; Lemmers, R.J.; van Overveld, P.G.; van der Wielen; Hewitt, J.E.; Sandkuijl, L.; Bakkar, B.; van Ommen, G.J.; Padberg, G.W.; Frants, 22. R.R. De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am. J. Hum. Genet. 2000, 66, 26-35. 23.

13. Zatz, M.; Marie, S.K.; Cerquiera, A.; Vainzof, M.; Pavanello, R.C.M.; Passos-Bueno, M.R. The facioscapulo-humeral muscular dystrophy (FSHD) gene affects males more severely and more frequently than females. Am. J. Med. Genet. 1998, 77, 155-161.

14. Bakker, E.; Van der Weilen, M.J.; Voorhoeve, E.; Ippel, 24. P.F.; Padberg, G.W.; Frants, R.R. Diagnostic, predictive and prenatal testing for facioscapulohumeral muscular dystrophy: Diagnostic approach for sporadic and familial cases. J. Med. Genet. 1996, 33, 29-35. Upadhyaya, M.; MacDonald, M.; Ravine, D. Molecular prenatal diagnosis in 12 facioscapulohumeral muscular dystrophy (FSHD) families. Prenat. Diagn. 1999, 19, 959965.

Lemmers, R.J.; de Kievit, P.; van Geel, M.; van der Wielen, J.R.; Bakker, E.; Padberg, G.W.; Frants, R.R.; van der Maarel, S.M. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann. Neurol. 2001, 50, 816-819.

Gabriels, J.; Beckers, M.C.; Ding, H.; DeVriese, A.; Plaisance, S.; van der Maarel, S.M.; Padberg, G.W.; Frants, R.R.; Hewitt, J.; Collen, D.; Belayew, A. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 1999, 236, 25-32. Winokur, S.T.; Chen, Y.; Masny, P.S.; Martin, J.H.; Ehmsen, J.T.; Tapscott, S.J.; van der Maarel, S.M.; Hayashi, Y.; Flanigan, K.M. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum. Mol. Genet. 2003, 12, 2895-2907. Gabellini, D.; Green, M.R.; Tupler, R. Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002, 110, 339-348.

Jiang, G.; Yang, F.; Overveld, P.G.M.; Vedanarayanan, V.; van der Maarel, S.; Ehrlich, M. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum. Mol. Genet. 2003,12, 2909 -2921.

van Geel, M.; Heather, L.J.; Lyle, R.; Hewitt, J.E.; Frants, R.R.; de Jong, P. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudo-genes and a high density of repeat elements. Genomics 1999, 61, 55-65.

Lemmers, R.J.L.F.; Kievit, P.; Sandkuiijl, L.; Padberg, G.W.; van Ommen, G.J.B.; Frants, R.R.; Maarel, S.M. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat. Genet. 2002, 32, 235-236.

Van Overveld, P.G.M.; Lemmers, R.J.F.L.; Sandkuiijl, L.W.; Enthoven, L.; Winokur, S.T.; Bakels, F.; Padberg, G.W.; van Ommen, G.J.B.; Frants, R.R.; van der Maarel, S. Hypomethylation of D4Z4 in 4q-linked facioscapulo-humeral muscular dystrophy. Nat. Genet. 2003, 35, 315317.

Kissel, J.T.; McDermott, M.P.; Natarajan, R.; et al. Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. Neurology 1998, 50, 1402-1406.

Factor IX Deficiency

Marian Hill Gerry Dolan

Nottingham Haemophilia Comprehensive Care Centre, Nottingham, U.K.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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