Gene Review:
FSHMD1A - facioscapulohumeral muscular dystrophy 1A
Homo sapiens
Synonyms:
FMD, FSHD, FSHD1A, FSHMD
- Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). Fisher, J., Upadhyaya, M. Neuromuscul. Disord. (1997)
- The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. Tam, R., Smith, K.P., Lawrence, J.B. J. Cell Biol. (2004)
- The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region. Winokur, S.T., Bengtsson, U., Vargas, J.C., Wasmuth, J.J., Altherr, M.R., Weiffenbach, B., Jacobsen, S.J. Hum. Mol. Genet. (1996)
- Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Tawil, R., Figlewicz, D.A., Griggs, R.C., Weiffenbach, B. Ann. Neurol. (1998)
- Preterm birth, vascular function, and risk factors for atherosclerosis. Singhal, A., Kattenhorn, M., Cole, T.J., Deanfield, J., Lucas, A. Lancet (2001)
- Modifications of brain tissue volumes in facioscapulohumeral dystrophy. Quarantelli, M., Lanzillo, R., Del Vecchio, W., Mollica, C., Prinster, A., Iadicicco, L., Iodice, V., Santoro, L., Salvatore, M. Neuroimage (2006)
- Frequent mental distress status among adults with arthritis age 45 years and older, 2001. Strine, T.W., Hootman, J.M., Okoro, C.A., Balluz, L., Moriarty, D.G., Owens, M., Mokdad, A. Arthritis Rheum. (2004)
- Effect of alcohol consumption on endothelial function in men with coronary artery disease. Teragawa, H., Fukuda, Y., Matsuda, K., Higashi, Y., Yamagata, T., Matsuura, H., Chayama, K. Atherosclerosis (2002)
- Social adjustment in adult males affected with progressive muscular dystrophy. Eggers, S., Zatz, M. Am. J. Med. Genet. (1998)
- The effect of motor learning in facioscapulohumeral muscular dystrophy patients. Bakhtiary, A.H., Phoenix, J., Edwards, R.H., Frostick, S.P. European journal of applied physiology. (2000)
- Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Gabellini, D., Green, M.R., Tupler, R. Cell (2002)
- Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events. Weiffenbach, B., Dubois, J., Storvick, D., Tawil, R., Jacobsen, S.J., Gilbert, J., Wijmenga, C., Mendell, J.R., Winokur, S., Altherr, M.R. Nat. Genet. (1993)
- Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. 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. Nat. Genet. (1992)
- Androgenic anabolic steroids and arterial structure and function in male bodybuilders. Sader, M.A., Griffiths, K.A., McCredie, R.J., Handelsman, D.J., Celermajer, D.S. J. Am. Coll. Cardiol. (2001)
- A folate- and methyl-deficient diet alters the expression of DNA methyltransferases and methyl CpG binding proteins involved in epigenetic gene silencing in livers of F344 rats. Ghoshal, K., Li, X., Datta, J., Bai, S., Pogribny, I., Pogribny, M., Huang, Y., Young, D., Jacob, S.T. J. Nutr. (2006)
- Endothelial dysfunction: methods of assessment and application to hypertension. Nadar, S., Blann, A.D., Lip, G.Y. Curr. Pharm. Des. (2004)
- A phase II study to evaluate the combination of fludarabine, mitoxantrone and dexamethasone (FMD) in patients with follicular lymphoma. Crawley, C.R., Foran, J.M., Gupta, R.K., Rohatiner, A.Z., Summers, K., Matthews, J., Micallef, I.N., Radford, J.A., Johnson, S.A., Johnson, P.W., Sweetenham, J.W., Lister, T.A. Ann. Oncol. (2000)
- FSHD-like patients without 4q35 deletion. Yamanaka, G., Goto, K., Ishihara, T., Oya, Y., Miyajima, T., Hoshika, A., Nishino, I., Hayashi, Y.K. J. Neurol. Sci. (2004)
- Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Winokur, S.T., Chen, Y.W., Masny, P.S., Martin, J.H., Ehmsen, J.T., Tapscott, S.J., van der Maarel, S.M., Hayashi, Y., Flanigan, K.M. Hum. Mol. Genet. (2003)
- Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease? Masny, P.S., Bengtsson, U., Chung, S.A., Martin, J.H., van Engelen, B., van der Maarel, S.M., Winokur, S.T. Hum. Mol. Genet. (2004)
- Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Jiang, G., Yang, F., van Overveld, P.G., Vedanarayanan, V., van der Maarel, S., Ehrlich, M. Hum. Mol. Genet. (2003)
- Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease. Slipetz, D.M., Aprille, J.R., Goodyer, P.R., Rozen, R. Am. J. Hum. Genet. (1991)
- The effect of vitamin E on endothelial function of micro- and macrocirculation and left ventricular function in type 1 and type 2 diabetic patients. Economides, P.A., Khaodhiar, L., Caselli, A., Caballero, A.E., Keenan, H., Bursell, S.E., King, G.L., Johnstone, M.T., Horton, E.S., Veves, A. Diabetes (2005)
- Early statin therapy restores endothelial function in children with familial hypercholesterolemia. de Jongh, S., Lilien, M.R., op't Roodt, J., Stroes, E.S., Bakker, H.D., Kastelein, J.J. J. Am. Coll. Cardiol. (2002)
- Cardiovascular risk factors in healthy women with previous gestational hypertension. Paradisi, G., Biaggi, A., Savone, R., Ianniello, F., Tomei, C., Caforio, L., Caruso, A. J. Clin. Endocrinol. Metab. (2006)
- The effects of atorvastatin on endothelial function in diabetic patients and subjects at risk for type 2 diabetes. Economides, P.A., Caselli, A., Tiani, E., Khaodhiar, L., Horton, E.S., Veves, A. J. Clin. Endocrinol. Metab. (2004)
- Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. Kissel, J.T., McDermott, M.P., Natarajan, R., Mendell, J.R., Pandya, S., King, W.M., Griggs, R.C., Tawil, R. Neurology (1998)
- Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Wijmenga, C., Padberg, G.W., Moerer, P., Wiegant, J., Liem, L., Brouwer, O.F., Milner, E.C., Weber, J.L., van Ommen, G.B., Sandkuyl, L.A. Genomics (1991)
- D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Lemmers, R.J., Osborn, M., Haaf, T., Rogers, M., Frants, R.R., Padberg, G.W., Cooper, D.N., van der Maarel, S.M., Upadhyaya, M. Neurology (2003)
- A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD). Winokur, S.T., Schutte, B., Weiffenbach, B., Washington, S.S., McElligott, D., Chakravarti, A., Wasmuth, J.H., Altherr, M.R. Am. J. Hum. Genet. (1993)
- 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-facioscapulohumeral muscular dystrophy (FSHD). Lunt, P.W., Jardine, P.E., Koch, M.C., Maynard, J., Osborn, M., Williams, M., Harper, P.S., Upadhyaya, M. Hum. Mol. Genet. (1995)
- Somatic mosaicism in FSHD often goes undetected. Lemmers, R.J., van der Wielen, M.J., Bakker, E., Padberg, G.W., Frants, R.R., van der Maarel, S.M. Ann. Neurol. (2004)