-
2
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2-kb tandemly repeated unit
-
van Deutekom J.C., Wijmenga C., van Tienhoven E.A., et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2-kb tandemly repeated unit. Hum Mol Genet 2 (1993) 2037-2042
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2037-2042
-
-
van Deutekom, J.C.1
Wijmenga, C.2
van Tienhoven, E.A.3
-
3
-
-
8844227430
-
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
-
Lemmers R.J., Wohlgemuth M., Frants R.R., et al. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet 75 (2004) 1124-1130
-
(2004)
Am J Hum Genet
, vol.75
, pp. 1124-1130
-
-
Lemmers, R.J.1
Wohlgemuth, M.2
Frants, R.R.3
-
4
-
-
34147177128
-
A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere
-
Thomas N.S., Wiseman K., Spurlock G., et al. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. J Med Genet 44 (2007) 215-218
-
(2007)
J Med Genet
, vol.44
, pp. 215-218
-
-
Thomas, N.S.1
Wiseman, K.2
Spurlock, G.3
-
5
-
-
33745715007
-
Facioscapulohumeral muscular dystrophy
-
Tawil R., and van der Maarel S.M. Facioscapulohumeral muscular dystrophy. Muscle Nerve 34 (2006) 1-15
-
(2006)
Muscle Nerve
, vol.34
, pp. 1-15
-
-
Tawil, R.1
van der Maarel, S.M.2
-
7
-
-
0037047439
-
Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle
-
Gabellini D., Green M.R., and Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110 (2002) 339-348
-
(2002)
Cell
, vol.110
, pp. 339-348
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
8
-
-
0141994824
-
Perturbations of chromatin structure in human genetic disease: recent advances
-
Bickmore W.A., and van der Maarel S.M. Perturbations of chromatin structure in human genetic disease: recent advances. Hum Mol Genet 12 Suppl. 2 (2003) R207-R213
-
(2003)
Hum Mol Genet
, vol.12
, Issue.SUPPL. 2
-
-
Bickmore, W.A.1
van der Maarel, S.M.2
-
9
-
-
4544273261
-
Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
-
Masny P.S., Bengtsson U., Chung S.A., et al. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?. Hum Mol Genet 13 (2004) 1857-1871
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1857-1871
-
-
Masny, P.S.1
Bengtsson, U.2
Chung, S.A.3
-
10
-
-
7244252921
-
The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres
-
Tam R., Smith K.P., and Lawrence J.B. The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. J Cell Biol 167 (2004) 269-279
-
(2004)
J Cell Biol
, vol.167
, pp. 269-279
-
-
Tam, R.1
Smith, K.P.2
Lawrence, J.B.3
-
11
-
-
0344875044
-
Expression profiling of FHSD muscle supports a defect in specific stages of myogenic differentiation
-
Winokur S.T., Chen Y.W., Masny P.S., et al. Expression profiling of FHSD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet 12 (2003) 2895-2907
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2895-2907
-
-
Winokur, S.T.1
Chen, Y.W.2
Masny, P.S.3
-
12
-
-
0345227304
-
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.M., Vedanarayanan V., van der Maarel S., and Erlich 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 12 (2003) 2909-2921
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2909-2921
-
-
Jiang, G.1
Yang, F.2
van Overveld, P.G.M.3
Vedanarayanan, V.4
van der Maarel, S.5
Erlich, M.6
-
13
-
-
0029113034
-
The FSHD associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subset of which are clustered on the short arms of the acrocentric chromosomes
-
Lyle R., Wright T.J., Clark L.N., and Hewitt J.E. The FSHD associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subset of which are clustered on the short arms of the acrocentric chromosomes. Genomics 28 (1995) 389-397
-
(1995)
Genomics
, vol.28
, pp. 389-397
-
-
Lyle, R.1
Wright, T.J.2
Clark, L.N.3
Hewitt, J.E.4
-
14
-
-
0029798271
-
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., et al. The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region. Hum Mol Genet 5 (1996) 1567-1575
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1567-1575
-
-
Winokur, S.T.1
Bengtsson, U.2
Vargas, J.C.3
-
15
-
-
0027959197
-
High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q
-
Bengtsson U., Altherr M.R., Wasmuth J.J., and Winokour S.T. High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q. Hum Mol Genet 3 (1994) 1801-1805
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1801-1805
-
-
Bengtsson, U.1
Altherr, M.R.2
Wasmuth, J.J.3
Winokour, S.T.4
-
16
-
-
0029195881
-
Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy
-
Altherr M.R., Bengtsson U., Markovich R.P., and Winokour S.T. Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy. Muscle Nerve 2 (1995) S32-S38
-
(1995)
Muscle Nerve
, vol.2
-
-
Altherr, M.R.1
Bengtsson, U.2
Markovich, R.P.3
Winokour, S.T.4
-
17
-
-
33646485687
-
Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts
-
Petrov A., Pirozhkova I., Carnac G., Laoudj D., Lipinski M., and Vassetzky Y.S. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci USA 103 (2006) 6982-6987
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 6982-6987
-
-
Petrov, A.1
Pirozhkova, I.2
Carnac, G.3
Laoudj, D.4
Lipinski, M.5
Vassetzky, Y.S.6
-
18
-
-
9244232833
-
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
-
van Deutekom J.C., Lemmers R.J., Grewal P.K., et al. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 5 (1996) 581-590
-
(1996)
Hum Mol Genet
, vol.5
, pp. 581-590
-
-
van Deutekom, J.C.1
Lemmers, R.J.2
Grewal, P.K.3
-
20
-
-
33846589302
-
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing
-
van Koningsbruggen S., Straasheijm K.R., Sterrenburg E., et al. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. Chromosoma 116 (2007) 53-64
-
(2007)
Chromosoma
, vol.116
, pp. 53-64
-
-
van Koningsbruggen, S.1
Straasheijm, K.R.2
Sterrenburg, E.3
-
21
-
-
33644522383
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
Gabellini D., D'Antona G., Moggio M., et al. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 439 (2006) 973-977
-
(2006)
Nature
, vol.439
, pp. 973-977
-
-
Gabellini, D.1
D'Antona, G.2
Moggio, M.3
-
22
-
-
8744240156
-
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
-
Rijkers T., Deidda G., van Koningsbruggen S., et al. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet 41 (2004) 826-839
-
(2004)
J Med Genet
, vol.41
, pp. 826-839
-
-
Rijkers, T.1
Deidda, G.2
van Koningsbruggen, S.3
-
23
-
-
0038458638
-
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection
-
Lemmers R.J., Osborn M., Haaf T., et al. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 61 (2003) 178-183
-
(2003)
Neurology
, vol.61
, pp. 178-183
-
-
Lemmers, R.J.1
Osborn, M.2
Haaf, T.3
-
24
-
-
18344417892
-
Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35
-
van Geel M., van Deutekom J.C., van Staalduinen A., et al. Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35. Cytogenet Cell Genet 88 (2000) 316-321
-
(2000)
Cytogenet Cell Genet
, vol.88
, pp. 316-321
-
-
van Geel, M.1
van Deutekom, J.C.2
van Staalduinen, A.3
-
25
-
-
0031708755
-
Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements
-
Ding H., Beckers M.C., Plaisance S., et al. Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements. Hum Mol Genet 7 (1998) 1681-1694
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1681-1694
-
-
Ding, H.1
Beckers, M.C.2
Plaisance, S.3
-
26
-
-
0035819550
-
Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements
-
Beckers M., Gabriëls J., van der Maarel S., et al. Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. Gene 264 (2001) 51-57
-
(2001)
Gene
, vol.264
, pp. 51-57
-
-
Beckers, M.1
Gabriëls, J.2
van der Maarel, S.3
-
27
-
-
0344436078
-
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
-
Gabriëls J., Beckers M.C., Ding H., et al. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 236 (1999) 25-32
-
(1999)
Gene
, vol.236
, pp. 25-32
-
-
Gabriëls, J.1
Beckers, M.C.2
Ding, H.3
-
28
-
-
0028040601
-
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy
-
Hewitt J.E., Lyle R., Clark L.N., et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 3 (1994) 1287-1295
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1287-1295
-
-
Hewitt, J.E.1
Lyle, R.2
Clark, L.N.3
-
29
-
-
8844271878
-
The DUX gene family and FSHD
-
Upadhyaya M., and Cooper D.N. (Eds), Bios Scientific Publisher Ltd, Oxford
-
Coppée F., Matteotti C., Ansseau E., et al. The DUX gene family and FSHD. In: Upadhyaya M., and Cooper D.N. (Eds). Facioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology (2004), Bios Scientific Publisher Ltd, Oxford 117-134
-
(2004)
Facioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology
, pp. 117-134
-
-
Coppée, F.1
Matteotti, C.2
Ansseau, E.3
-
30
-
-
0022904751
-
Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila
-
Bopp D., Burri M., Baumgartner S., Frigerio G., and Noll M. Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila. Cell 47 (1986) 1033-1040
-
(1986)
Cell
, vol.47
, pp. 1033-1040
-
-
Bopp, D.1
Burri, M.2
Baumgartner, S.3
Frigerio, G.4
Noll, M.5
-
31
-
-
0025108424
-
The orthodenticle gene encodes a novel homeo domain protein involved in the development of the Drosophila nervous system and ocellar visual structures
-
Finkelstein R., Smouse D., Capaci T.M., Spradling A.C., and Perrimon N. The orthodenticle gene encodes a novel homeo domain protein involved in the development of the Drosophila nervous system and ocellar visual structures. Genes Dev 4 (1990) 1516-1527
-
(1990)
Genes Dev
, vol.4
, pp. 1516-1527
-
-
Finkelstein, R.1
Smouse, D.2
Capaci, T.M.3
Spradling, A.C.4
Perrimon, N.5
-
32
-
-
33748419667
-
Myogenic progenitor cells and skeletal myogenesis in vertebrates
-
Buckingham M. Myogenic progenitor cells and skeletal myogenesis in vertebrates. Curr Opin Genet Dev 16 (2006) 525-532
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 525-532
-
-
Buckingham, M.1
-
34
-
-
16844364725
-
Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle
-
Laoudj-Chenivesse D., Carnac G., Bisbal C., et al. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med 83 (2005) 216-224
-
(2005)
J Mol Med
, vol.83
, pp. 216-224
-
-
Laoudj-Chenivesse, D.1
Carnac, G.2
Bisbal, C.3
-
36
-
-
0037468461
-
Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation
-
Yip D.J., and Picketts D.J. Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation. FEBS Lett 537 (2003) 133-138
-
(2003)
FEBS Lett
, vol.537
, pp. 133-138
-
-
Yip, D.J.1
Picketts, D.J.2
-
37
-
-
0028892445
-
High affinity YY1 binding motifs: identification of two core types (ACAT and CCAT) and distribution of potential binding sites within the human beta globin cluster
-
Yant S.R., Zhu W., Millinoff D., Slightom J.L., Goodman M., and Gumucio D.L. High affinity YY1 binding motifs: identification of two core types (ACAT and CCAT) and distribution of potential binding sites within the human beta globin cluster. Nucleic Acids Res 23 (1995) 4353-4362
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 4353-4362
-
-
Yant, S.R.1
Zhu, W.2
Millinoff, D.3
Slightom, J.L.4
Goodman, M.5
Gumucio, D.L.6
-
38
-
-
0030955703
-
Integral membrane proteins of the nuclear envelope are dispersed throughout the endoplasmic reticulum during mitosis
-
Yang L., Guan T., and Gerace L. Integral membrane proteins of the nuclear envelope are dispersed throughout the endoplasmic reticulum during mitosis. J Cell Biol 137 (1997) 1199-1210
-
(1997)
J Cell Biol
, vol.137
, pp. 1199-1210
-
-
Yang, L.1
Guan, T.2
Gerace, L.3
-
39
-
-
0032575671
-
Colocalization of emerin and lamins in interphase nuclei and changes during mitosis
-
Manilal S., Nguyen T.M., and Morris G.E. Colocalization of emerin and lamins in interphase nuclei and changes during mitosis. Biochem Biophys Res Commun 249 (1998) 643-647
-
(1998)
Biochem Biophys Res Commun
, vol.249
, pp. 643-647
-
-
Manilal, S.1
Nguyen, T.M.2
Morris, G.E.3
-
40
-
-
33749039999
-
Genome-wide hypomethylation in human glioblastomas associated with specific copy number alteration, methylenetetra-hydrofolate reductase allele status, and increased proliferation
-
Cadieux B., Ching T.T., Vandenberg S.R., and Costello J.F. Genome-wide hypomethylation in human glioblastomas associated with specific copy number alteration, methylenetetra-hydrofolate reductase allele status, and increased proliferation. Cancer Res 66 (2006) 8469-8476
-
(2006)
Cancer Res
, vol.66
, pp. 8469-8476
-
-
Cadieux, B.1
Ching, T.T.2
Vandenberg, S.R.3
Costello, J.F.4
-
41
-
-
33745283008
-
Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation
-
Kawamura-Saito M., Yamazaki Y., Kaneko K., et al. Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation. Hum Mol Genet 15 (2006) 2125-2137
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2125-2137
-
-
Kawamura-Saito, M.1
Yamazaki, Y.2
Kaneko, K.3
-
42
-
-
0033607231
-
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy
-
(Erratum in: Proc Natl Acad Sci USA 2000;29:2397)
-
Tupler R., Perini G., Pellegrino M.A., and Green M.R. Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. Proc Natl Acad Sci USA 26 (1999) 12650-12654 (Erratum in: Proc Natl Acad Sci USA 2000;29:2397)
-
(1999)
Proc Natl Acad Sci USA
, vol.26
, pp. 12650-12654
-
-
Tupler, R.1
Perini, G.2
Pellegrino, M.A.3
Green, M.R.4
-
43
-
-
0043095483
-
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress
-
Winokur S.T., Barrett K., Martin J.H., et al. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord 13 (2003) 322-333
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 322-333
-
-
Winokur, S.T.1
Barrett, K.2
Martin, J.H.3
|