-
1
-
-
0034882438
-
Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
-
DOI 10.1016/S0960-8966(01)00201-2, PII S0960896601002012
-
Flanigan, K.M. et al. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul. Disord. 11, 525-529 (2001). (Pubitemid 32761794)
-
(2001)
Neuromuscular Disorders
, vol.11
, Issue.6-7
, pp. 525-529
-
-
Flanigan, K.M.1
Coffeen, C.M.2
Sexton, L.3
Stauffer, D.4
Brunner, S.5
Leppert, M.F.6
-
2
-
-
66549122709
-
Facioscapulohumeral muscular dystrophy: Epidemiological and molecular study in a north-east Italian population sample
-
Mostacciuolo, M.L. et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin. Genet. 75, 550-555 (2009).
-
(2009)
Clin. Genet.
, vol.75
, pp. 550-555
-
-
Mostacciuolo, M.L.1
-
4
-
-
0028918407
-
Facioscapulohumeral muscular dystrophy in the Dutch population
-
Padberg, G.W. et al. Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve 2, S81-S84 (1995).
-
(1995)
Muscle Nerve
, vol.2
-
-
Padberg, G.W.1
-
5
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
van Deutekom, J.C. 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, 2037-2042 (1993). (Pubitemid 24003395)
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.12
, pp. 2037-2042
-
-
Van Deutekom, J.C.T.1
Wijmenga, C.2
Van Tienhoven, E.A.E.3
Gruter, A.-M.4
Hewitt, J.E.5
Padberg, G.W.6
Van Ommen, G.-J.B.7
Hofker, M.H.8
Frants, R.R.9
-
6
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga, C. et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat. Genet. 2, 26-30 (1992).
-
(1992)
Nat. Genet.
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
-
7
-
-
37549005500
-
Facioscapulohumeral dystrophy
-
Pandya, S., King, W.M. & Tawil, R. Facioscapulohumeral dystrophy. Phys. Ther. 88, 105-113 (2008).
-
(2008)
Phys. Ther.
, vol.88
, pp. 105-113
-
-
Pandya, S.1
King, W.M.2
Tawil, R.3
-
8
-
-
36749026295
-
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
-
DOI 10.1073/pnas.0708659104
-
Dixit, M. et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc. Natl. Acad. Sci. USA 104, 18157-18162 (2007). (Pubitemid 350210837)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.46
, pp. 18157-18162
-
-
Dixit, M.1
Ansseau, E.2
Tassin, A.3
Winokur, S.4
Shi, R.5
Qian, H.6
Sauvage, S.7
Matteotti, C.8
Van Acker, A.M.9
Leo, O.10
Figlewicz, D.11
Barro, M.12
Laoudj-Chenivesse, D.13
Belayew, A.14
Coppee, F.15
Chen, Y.-W.16
-
9
-
-
0344436078
-
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
-
DOI 10.1016/S0378-1119(99)00267-X, PII S037811199900267X
-
Gabriëls, J. 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, 25-32 (1999). (Pubitemid 29347656)
-
(1999)
Gene
, vol.236
, Issue.1
, pp. 25-32
-
-
Gabriels, J.1
Beckers, M.-C.2
Ding, H.3
De Vriese, A.4
Plaisance, S.5
Van Der Maarel, S.M.6
Padberg, G.W.7
Frants, R.R.8
Hewitt, J.E.9
Collen, D.10
Belayew, A.11
-
10
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
Lemmers, R.J. et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 329, 1650-1653 (2010).
-
(2010)
Science
, vol.329
, pp. 1650-1653
-
-
Lemmers, R.J.1
-
11
-
-
54349088194
-
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
-
Bosnakovski, D. et al. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J. 27, 2766-2779 (2008).
-
(2008)
EMBO J.
, vol.27
, pp. 2766-2779
-
-
Bosnakovski, D.1
-
12
-
-
34447104322
-
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
-
DOI 10.1016/j.nmd.2007.04.002, PII S0960896607001216
-
Kowaljow, V. et al. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul. Disord. 17, 611-623 (2007). (Pubitemid 47030917)
-
(2007)
Neuromuscular Disorders
, vol.17
, Issue.8
, pp. 611-623
-
-
Kowaljow, V.1
Marcowycz, A.2
Ansseau, E.3
Conde, C.B.4
Sauvage, S.5
Matteotti, C.6
Arias, C.7
Corona, E.D.8
Nunez, N.G.9
Leo, O.10
Wattiez, R.11
Figlewicz, D.12
Laoudj-Chenivesse, D.13
Belayew, A.14
Coppee, F.15
Rosa, A.L.16
-
13
-
-
78449250235
-
Facioscapulohumeral dystrophy: Incomplete suppression of a retrotransposed gene
-
Snider, L. et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 6, e1001181 (2010).
-
(2010)
PLoS Genet.
, vol.6
-
-
Snider, L.1
-
14
-
-
84859478913
-
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy
-
Scionti, I. et al. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 90, 628-635 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 628-635
-
-
Scionti, I.1
-
15
-
-
84867068988
-
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: Evidence for disease modifiers and a quantitative model of pathogenesis
-
Jones, T.I. et al. Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum. Mol. Genet. 21, 4419-4430 (2012).
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 4419-4430
-
-
Jones, T.I.1
-
16
-
-
82755192899
-
Role of telomeres and telomerase in cancer
-
Shay, J.W. & Wright, W.E. Role of telomeres and telomerase in cancer. Semin. Cancer Biol. 21, 349-353 (2011).
-
(2011)
Semin. Cancer Biol.
, vol.21
, pp. 349-353
-
-
Shay, J.W.1
Wright, W.E.2
-
17
-
-
36749094748
-
Telomere position effect: Silencing near the end
-
eds. De Lange, T., Lundblad, V. & Blackburn, E.H. Cold Spring Harbor Laboratory
-
Mondoux, M. & Zakian, V.A. Telomere position effect: silencing near the end. in Telomeres (eds. De Lange, T., Lundblad, V. & Blackburn, E.H.) 261-316 (Cold Spring Harbor Laboratory, 2006).
-
(2006)
Telomeres
, pp. 261-316
-
-
Mondoux, M.1
Zakian, V.A.2
-
18
-
-
39049103917
-
Chromatin structure and the regulation of gene expression: The lessons of PEV in Drosophila
-
Girton, J.R. & Johansen, K.M. Chromatin structure and the regulation of gene expression: the lessons of PEV in Drosophila. Adv. Genet. 61, 1-43 (2008).
-
(2008)
Adv. Genet.
, vol.61
, pp. 1-43
-
-
Girton, J.R.1
Johansen, K.M.2
-
19
-
-
0025201982
-
Position effect at S
-
Gottschling, D.E., Aparicio, O.M., Billington, B.L. & Zakian, V.A. Position effect at S. cerevisiae telomeres: reversible repression of Pol II transcription. Cell 63, 751-762 (1990).
-
(1990)
Cerevisiae Telomeres: Reversible Repression of Pol II Transcription. Cell
, vol.63
, pp. 751-762
-
-
Gottschling, D.E.1
Aparicio, O.M.2
Billington, B.L.3
Zakian, V.A.4
-
20
-
-
0021259320
-
Transformation of white locus DNA in drosophila: Dosage compensation, zeste interaction, and position effects
-
Hazelrigg, T., Levis, R. & Rubin, G.M. Transformation of white locus DNA in Drosophila: dosage compensation, zeste interaction, and position effects. Cell 36, 469-481 (1984). (Pubitemid 14126235)
-
(1984)
Cell
, vol.36
, Issue.2
, pp. 469-481
-
-
Hazelrigg, T.1
Levis, R.2
Rubin, G.M.3
-
21
-
-
0035874977
-
Telomere position effect in human cells
-
DOI 10.1126/science.1062329
-
Baur, J.A., Zou, Y., Shay, J.W. & Wright, W.E. Telomere position effect in human cells. Science 292, 2075-2077 (2001). (Pubitemid 32691573)
-
(2001)
Science
, vol.292
, Issue.5524
, pp. 2075-2077
-
-
Baur, J.A.1
Zou, Y.2
Shay, J.W.3
Wright, W.E.4
-
22
-
-
37349057936
-
Telomeric transgenes are silenced in adult mouse tissues and embryo fibroblasts but are expressed in embryonic stem cells
-
DOI 10.1634/stemcells.2007-0478
-
Gao, Q. et al. Telomeric transgenes are silenced in adult mouse tissues and embryo fibroblasts but are expressed in embryonic stem cells. Stem Cells 25, 3085-3092 (2007). (Pubitemid 350294434)
-
(2007)
Stem Cells
, vol.25
, Issue.12
, pp. 3085-3092
-
-
Gao, Q.1
Reynolds, G.E.2
Innes, L.3
Pedram, M.4
Jones, E.5
Junabi, M.6
Gao, D.-W.7
Ricoul, M.8
Sabatier, L.9
Van Brocklin, H.10
Franc, B.L.11
Murnane, J.P.12
-
23
-
-
0036867444
-
Human telomeric position effect is determined by chromosomal context and telomeric chromatin integrity
-
DOI 10.1093/embo-reports/kvf215
-
Koering, C.E. et al. Human telomeric position effect is determined by chromosomal context and telomeric chromatin integrity. EMBO Rep. 3, 1055-1061 (2002). (Pubitemid 35469897)
-
(2002)
EMBO Reports
, vol.3
, Issue.11
, pp. 1055-1061
-
-
Koering, C.E.1
Pollice, A.2
Zibella, M.P.3
Bauwens, S.4
Puisieux, A.5
Brunori, M.6
Brun, C.7
Martins, L.8
Sabatier, L.9
Pulitzer, J.F.10
Gilson, E.11
-
24
-
-
33644502519
-
Telomere position effect and silencing of transgenes near telomeres in the mouse
-
Pedram, M. et al. Telomere position effect and silencing of transgenes near telomeres in the mouse. Mol. Cell Biol. 26, 1865-1878 (2006).
-
(2006)
Mol. Cell Biol.
, vol.26
, pp. 1865-1878
-
-
Pedram, M.1
-
25
-
-
77955596055
-
Telomere length regulates ISG15 expression in human cells
-
Lou, Z. et al. Telomere length regulates ISG15 expression in human cells. Aging (Albany, NY) 1, 608-621 (2009).
-
(2009)
Aging (Albany, NY)
, vol.1
, pp. 608-621
-
-
Lou, Z.1
-
26
-
-
61449143604
-
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy
-
Ottaviani, A. et al. The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy. PLoS Genet. 5, e1000394 (2009).
-
(2009)
PLoS Genet.
, vol.5
-
-
Ottaviani, A.1
-
27
-
-
77958029730
-
D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells
-
Ottaviani, A., Schluth-Bolard, C., Gilson, E. & Magdinier, F. D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells. Nucleus 1, 30-36 (2010).
-
(2010)
Nucleus
, vol.1
, pp. 30-36
-
-
Ottaviani, A.1
Schluth-Bolard, C.2
Gilson, E.3
Magdinier, F.4
-
28
-
-
84858340573
-
Establishment of clonal myogenic cell lines from severely affected dystrophic muscles-CDK4 maintains the myogenic population
-
Stadler, G. et al. Establishment of clonal myogenic cell lines from severely affected dystrophic muscles-CDK4 maintains the myogenic population. Skelet. Muscle 1, 12 (2011).
-
(2011)
Skelet. Muscle
, vol.1
, pp. 12
-
-
Stadler, G.1
-
29
-
-
84858334928
-
A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: Family, disease and cell function
-
Homma, S. et al. A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function. Eur. J. Hum. Genet. 20, 404-410 (2012).
-
(2012)
Eur. J. Hum. Genet.
, vol.20
, pp. 404-410
-
-
Homma, S.1
-
30
-
-
0037461928
-
Bypass of telomere-dependent replicative senescence (M1) upon overexpression of Cdk4 in normal human epithelial cells
-
DOI 10.1038/sj.onc.1206046
-
Ramirez, R.D. et al. Bypass of telomere-dependent replicative senescence (M1) upon overexpression of Cdk4 in normal human epithelial cells. Oncogene 22, 433-444 (2003). (Pubitemid 36194339)
-
(2003)
Oncogene
, vol.22
, Issue.3
, pp. 433-444
-
-
Ramirez, R.D.1
Herbert, B.-S.2
Vaughan, M.B.3
Zou, Y.4
Gandia, K.5
Morales, C.P.6
Wright, W.E.7
Shay, J.W.8
-
31
-
-
0037047439
-
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
-
Gabellini, D., Green, M.R. & Tupler, R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110, 339-348 (2002).
-
(2002)
Cell
, vol.110
, pp. 339-348
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
32
-
-
70450275779
-
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level
-
Klooster, R. et al. Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level. Eur. J. Hum. Genet. 17, 1615-1624 (2009).
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 1615-1624
-
-
Klooster, R.1
-
33
-
-
8744240156
-
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
-
DOI 10.1136/jmg.2004.019364
-
Rijkers, T. et al. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J. Med. Genet. 41, 826-836 (2004). (Pubitemid 39524309)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.11
, pp. 826-836
-
-
Rijkers, T.1
Deidda, G.2
Van Koningsbruggen, S.3
Van Geel, M.4
Lemmers, R.J.L.F.5
Van Deutekom, J.C.T.6
Figlewicz, D.7
Hewitt, J.E.8
Padberg, G.W.9
Frants, R.R.10
Van Der Maarel, S.M.11
-
34
-
-
0028040601
-
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy
-
Hewitt, J.E. et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum. Mol. Genet. 3, 1287-1295 (1994). (Pubitemid 24255461)
-
(1994)
Human Molecular Genetics
, vol.3
, Issue.8
, pp. 1287-1295
-
-
Hewitt, J.E.1
Lyle, R.2
Clark, L.N.3
Valleley, E.M.4
Wright, T.J.5
Wijmenga, C.6
Van Deutekom, J.C.T.7
Francis, F.8
Sharpe, P.T.9
Hofker, M.10
Frants, R.R.11
Williamson, R.12
-
35
-
-
33745283008
-
Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation
-
DOI 10.1093/hmg/ddl136
-
Kawamura-Saito, M. 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, 2125-2137 (2006). (Pubitemid 43923402)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.13
, pp. 2125-2137
-
-
Kawamura-Saito, M.1
Yamazaki, Y.2
Kaneko, K.3
Kawaguchi, N.4
Kanda, H.5
Mukai, H.6
Gotoh, T.7
Motoi, T.8
Fukayama, M.9
Aburatani, H.10
Takizawa, T.11
Nakamura, T.12
-
36
-
-
84855956147
-
DUX4 activates germline genes, retroelements, and immune mediators: Implications for facioscapulohumeral dystrophy
-
Geng, L.N. et al. DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev. Cell 22, 38-51 (2012).
-
(2012)
Dev. Cell
, vol.22
, pp. 38-51
-
-
Geng, L.N.1
-
37
-
-
0001641514
-
Mutations of bacteria from virus sensitivity to virus resistance
-
Luria, S.E. & Delbruck, M. Mutations of bacteria from virus sensitivity to virus resistance. Genetics 28, 491-511 (1943).
-
(1943)
Genetics
, vol.28
, pp. 491-511
-
-
Luria, S.E.1
Delbruck, M.2
-
38
-
-
0026821975
-
Zero-inflated Poisson regression, with an application to defects in manufacturing
-
Lambert, D. Zero-inflated Poisson regression, with an application to defects in manufacturing. Technometrics 34, 1-14 (1992).
-
(1992)
Technometrics
, vol.34
, pp. 1-14
-
-
Lambert, D.1
-
39
-
-
0030881301
-
Replicative potential and telomere length in human skeletal muscle: Implications for satellite cell-mediated gene therapy
-
Decary, S. et al. Replicative potential and telomere length in human skeletal muscle: implications for satellite cell-mediated gene therapy. Hum. Gene Ther. 8, 1429-1438 (1997). (Pubitemid 27393998)
-
(1997)
Human Gene Therapy
, vol.8
, Issue.12
, pp. 1429-1438
-
-
Decary, S.1
Mouly, V.2
Ben Hamida, C.3
Sautet, A.4
Barbet, J.P.5
Butler-Browne, G.S.6
-
40
-
-
3242885366
-
The relative lengths of individual telomeres are defined in the zygote and strictly maintained during life
-
DOI 10.1111/j.1474-9728.2004.00093.x
-
Graakjaer, J. et al. The relative lengths of individual telomeres are defined in the zygote and strictly maintained during life. Aging Cell 3, 97-102 (2004). (Pubitemid 40246672)
-
(2004)
Aging Cell
, vol.3
, Issue.3
, pp. 97-102
-
-
Graakjaer, J.1
Pascoe, L.2
Der-Sarkissian, H.3
Thomas, G.4
Kolvraa, S.5
Christensen, K.6
Londono-Vallejo, J.-A.7
-
41
-
-
0033901259
-
Telomere length inversely correlates with pulse pressure and is highly familial
-
Jeanclos, E. et al. Telomere length inversely correlates with pulse pressure and is highly familial. Hypertension 36, 195-200 (2000). (Pubitemid 30626988)
-
(2000)
Hypertension
, vol.36
, Issue.2
, pp. 195-200
-
-
Jeanclos, E.1
Schork, N.J.2
Kyvik, K.O.3
Kimura, M.4
Skurnick, J.H.5
Aviv, A.6
-
42
-
-
0035420646
-
Differences in telomere length between homologous chromosomes in humans
-
Londoño-Vallejo, J.A., DerSarkissian, H., Cazes, L. & Thomas, G. Differences in telomere length between homologous chromosomes in humans. Nucleic Acids Res. 29, 3164-3171 (2001). (Pubitemid 32750562)
-
(2001)
Nucleic Acids Research
, vol.29
, Issue.15
, pp. 3164-3171
-
-
Londono-Vallejo, J.A.1
DerSarkissian, H.2
Cazes, L.3
Thomas, G.4
-
43
-
-
0027184524
-
Silent domains are assembled continuously from the telomere and are defined by promoter distance and strength, and by SIR3 dosage
-
Renauld, H. et al. Silent domains are assembled continuously from the telomere and are defined by promoter distance and strength, and by SIR3 dosage. Genes Dev. 7, 1133-1145 (1993). (Pubitemid 23207406)
-
(1993)
Genes and Development
, vol.7
, Issue.7
, pp. 1133-1145
-
-
Renauld, H.1
Aparicio, O.M.2
Zierath, P.D.3
Billington, B.L.4
Chhablani, S.K.5
Gottschling, D.E.6
-
44
-
-
79955664112
-
Facioscapulohumeral muscular dystrophy and DUX4: Breaking the silence
-
van der Maarel, S.M., Tawil, R. & Tapscott, S.J. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol. Med. 17, 252-258 (2011).
-
(2011)
Trends Mol. Med.
, vol.17
, pp. 252-258
-
-
Van Der Maarel, S.M.1
Tawil, R.2
Tapscott, S.J.3
-
45
-
-
33947303168
-
Transposable elements and the epigenetic regulation of the genome
-
DOI 10.1038/nrg2072, PII NRG2072
-
Slotkin, R.K. & Martienssen, R. Transposable elements and the epigenetic regulation of the genome. Nat. Rev. Genet. 8, 272-285 (2007). (Pubitemid 46439291)
-
(2007)
Nature Reviews Genetics
, vol.8
, Issue.4
, pp. 272-285
-
-
Slotkin, R.K.1
Martienssen, R.2
-
46
-
-
84873187664
-
DUX4 expression in FSHD muscle cells: How could such a rare protein cause a myopathy
-
Tassin, A. et al. DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? J. Cell Mol. Med. 17, 76-89 (2013).
-
(2013)
J. Cell Mol. Med.
, vol.17
, pp. 76-89
-
-
Tassin, A.1
|