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1 FSHD expression profiles generated by oligonucleotide mi
2 FSHD has recently been hypothesized to involve abnormal
3 FSHD is a common muscular dystrophy that has been linked
4 FSHD is a gain-of-function disease characterized by the
5 FSHD is an autosomal dominant disease linked to chromoso
6 FSHD is now known to be associated with large deletions
7 FSHD patients have too few copies of a tandem 3.3-kb rep
8 FSHD region gene 1 (FRG1) is a dynamic nuclear and cytop
9 FSHD results from a unique combination of genetic and ep
10 FSHD typically results from contraction of a critical nu
11 ncluding several genetically diagnosed adult FSHD subjects yet to show clinical manifestations of the
24 d experiments and validates the fidelity and FSHD relevance of multiple distinct models of DUX4 expre
25 d that in muscle of FRG1 transgenic mice and FSHD patients, specific pre-mRNAs undergo aberrant alter
27 the 4q35 and 10q26 D4Z4 arrays in normal and FSHD lymphoid cells were like those in unexpressed euchr
29 additional 26 subjects and predicted them as FSHD or control with 90% accuracy based on biceps and 80
31 criptions of phenotypic similarities between FSHD and an FSHD-like condition caused by FAT1 mutations
33 n between DME2 and the DUX4 promoter in both FSHD and unaffected primary myocytes was greatly reduced
35 del for how the 4q35 array-shortening causes FSHD is that it results in a loss of postulated D4Z4 het
36 have been examined as candidates for causing FSHD, including the DUX4 homeobox gene in the D4Z4 repea
39 re, we choose facioscapulohumeral dystrophy (FSHD) as a model to determine whether or not targeting k
61 ases facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat in the
69 ying facioscapulohumeral muscular dystrophy (FSHD) much closer to the telomere in human 4q than in th
70 rder facioscapulohumeral muscular dystrophy (FSHD) results from integral deletions of the subtelomeri
72 uses facioscapulohumeral muscular dystrophy (FSHD) when occurring on a specific haplotype of 4qter (4
74 d in facioscapulohumeral muscular dystrophy (FSHD), a dominant disease thought to involve local patho
76 for facioscapulohumeral muscular dystrophy (FSHD), whereby de-repression of the D4Z4 macrosatellite
83 ray (facioscapulohumeral muscular dystrophy, FSHD) despite sequence conservation in repeat units thro
85 t mice with disrupted Fat1 functions exhibit FSHD-like phenotypes, we have investigated the expressio
86 gene expression is the underlying basis for FSHD, distinguishing it from other forms of muscular dys
93 ear lamina protein lamin A/C is required for FSHD region chromatin localization to the nuclear envelo
96 4-fl expression per se is not sufficient for FSHD muscle pathology and indicate that quantitative mod
97 ral other mechanisms have been suggested for FSHD pathophysiology and it remains unknown whether DUX4
99 ogenic cells and muscle tissues derived from FSHD affected subjects, including several genetically di
100 re, we have utilized myoblasts isolated from FSHD patients (FSHD myoblasts) to investigate the effect
102 fects in nuclear envelope proteins, however, FSHD may result from inappropriate chromatin interaction
103 DUX4 in myoblasts, and differentiated human FSHD myocytes expressing endogenous DUX4-and show that t
106 facilitate pairwise comparisons to identify FSHD-specific differences and are expected to create new
109 Indeed, many of the transcripts affected in FSHD represent direct targets of the transcription facto
111 ect suggests the presence of anticipation in FSHD and raises the possibility of an underlying dynamic
112 e majority of the gene expression changes in FSHD skeletal muscle together with an immune cell infilt
117 scription when epigenetically derepressed in FSHD, resulting in the pathological misexpression of DUX
118 However, DUX4 is difficult to detect in FSHD muscle biopsies and it is debatable how robust chan
119 ith short telomeres, while not detectable in FSHD myoblasts with long telomeres or in healthy myoblas
120 s regulated by DUX4 are reliably detected in FSHD muscle but not in controls, providing direct suppor
121 protein, DUX4-FL, which has been detected in FSHD, but not in unaffected control myogenic cells and m
122 ier that underlie sex-related differences in FSHD by protecting against myoblast differentiation impa
124 ly based on endogenous expression of DUX4 in FSHD cells or by mis-expression of DUX4 in control human
127 previous studies showed DUX4 was elevated in FSHD patient muscles, our data support the hypothesis th
129 R-133b, and miR-206 were highly expressed in FSHD myoblasts, which nonetheless did not prematurely en
131 nsistent with 'bursts' of DUX4 expression in FSHD muscle, and has implications for FSHD pathogenesis.
135 ase in transcript levels from these genes in FSHD skeletal muscle samples compared with controls.
138 However, DUX4 expression is extremely low in FSHD muscle, and there is no DUX4 animal model that mirr
142 entified in this region are overexpressed in FSHD myoblasts, including the double homeobox genes DUX4
143 ion leads to inappropriate overexpression in FSHD skeletal muscle of 4q35 genes located upstream of D
145 that up-regulation of both DUX4 and PITX1 in FSHD muscles may play critical roles in the molecular me
149 Clinical and molecular genetic research in FSHD has since helped define it as a distinct clinical e
151 some of the structures at the sarcolemma in FSHD samples were misaligned with respect to the underly
153 The relative chromatin DNaseI sensitivity in FSHD and control myoblasts and lymphoblasts was as follo
154 pression is the major molecular signature in FSHD muscle together with a gene expression signature co
157 s could be accounted for by the fact that in FSHD myoblasts, functionally important target genes, inc
159 n, one unaffected individual without a known FSHD-causing mutation showed the expression of DUX4 targ
160 a sibling with FSHD and also without a known FSHD-causing mutation, suggesting the presence of an uni
164 evelopment over time is noted for GHD and LH/FSHD with possible associations between nontreatment of
165 t prevalence was 46.5% for GHD, 10.8% for LH/FSHD, 7.5% for TSHD, and 4% for ACTHD, and the cumulativ
166 le mass and exercise tolerance; untreated LH/FSHD was associated with hypertension, dyslipidemia, low
168 GHD; doses >/= 22 Gy were associated with LH/FSHD; and doses >/= 30 Gy were associated with TSHD and
169 besity were significantly associated with LH/FSHD; white race was significant associated with LH/FSHD
170 e sequencing analysis indicated that in most FSHD myocytes, both enhancers are associated with nucleo
171 icism for D4Z4 repeat contraction in de novo FSHD, we have established a clonal myogenic cell model f
173 g was corroborated by expression analysis of FSHD muscle using a custom cDNA microarray containing 51
178 model for the molecular genetic etiology of FSHD, such as, differential long-distance cis looping th
179 PAX7 target gene repression is a hallmark of FSHD that should be considered in the investigation of F
180 ession of PAX7 target genes is a hallmark of FSHD, and that it is as major a signature of FSHD muscle
182 counteract the differentiation impairment of FSHD myoblasts without affecting cell proliferation or s
185 hese findings suggest specific mechanisms of FSHD pathology and identify candidate biomarkers for dis
187 ata generated from three different models of FSHD-lentiviral-based DUX4 expression in myoblasts, doxy
188 s derived from biceps and deltoid muscles of FSHD affected subjects and their unaffected first-degree
189 inct muscles obtained from a large number of FSHD subjects and their unaffected first-degree relative
192 To better understand the pathophysiology of FSHD and develop mRNA-based biomarkers of affected muscl
193 Our results show that the pathophysiology of FSHD includes novel changes in the organization of the s
195 en developed to study the pathophysiology of FSHD, frequently based on endogenous expression of DUX4
201 es not account for the tissue specificity of FSHD pathology, which requires stable expression of an a
202 muscles that are affected at early stages of FSHD progression than in muscles that are affected later
204 DUX4 protein is present in a small subset of FSHD muscle cells, making its detection and analysis of
209 lized myoblasts isolated from FSHD patients (FSHD myoblasts) to investigate the effect of estrogens o
210 eat D4Z4) localize to the nuclear periphery, FSHD likely arises instead from improper interactions wi
212 his is shown using meta-analysis of over six FSHD muscle biopsy gene expression studies, and validate
216 cis; however which candidate gene causes the FSHD phenotype, and through what mechanism, is unknown.
217 e observations complicate the search for the FSHD gene but also imply the presence of a potentially n
218 great apes and lower primates identified the FSHD-associated repeat on chromosome 4q as the likely an
221 expression recapitulates key features of the FSHD molecular phenotype, including repression of MyoD a
223 from genetically unaffected relatives of the FSHD subjects, although at a significantly lower frequen
226 In contrast to most other telomeres, the FSHD region at 4q35.2 localizes to the nuclear periphery
227 rtantly, none of the genes localizing to the FSHD region at 4q35 were found to exhibit a significantl
228 ric chromosomes, we investigated whether the FSHD region on 4q is involved in sub-nuclear localizatio
231 enic differentiation and could contribute to FSHD pathology by preventing satellite cell-mediated rep
234 ough no gene has been conclusively linked to FSHD development, recent evidence supports a role for th
238 (D4Z4) on chromosome 4q35 is associated with FSHD but otherwise the molecular basis of the disease an
239 and unaffected muscle) from individuals with FSHD served to monitor expression changes during the pro
240 n data from muscle biopsies of patients with FSHD to those of 11 other neuromuscular disorders, paire
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