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1                                              EDMD is also caused by X-linked recessive loss-of-functi
2                                              EDMD-linked genes were necessary for the initial separat
3 rs of mitochondria across a larger set of 14 EDMD spectrum patients and 7 controls.
4                                           AD-EDMD patients with LMNA mutations show the same cellular
5 nclude Emery-Dreifuss muscular dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature agi
6 minant Emery-Dreifuss muscular dystrophy (AD-EDMD), which affects skeletal and cardiac muscle.
7 oid LmnaDelta9 mutant mice are models for AD-EDMD and HGPS, respectively.
8 MJs) are part of the disease mechanism in AD-EDMD.
9 isms for the muscle-specific phenotype of AD-EDMD.
10 /C-mediated NMJ defects contribute to the AD-EDMD disease phenotype and provide insights into the cel
11 ons show the same cellular defects as the AD-EDMD mouse models.
12                                       Two AD-EDMD mouse models show innervation defects including mis
13 ing interactions were common features of all EDMD patient fibroblasts.
14  on cells from 10 patients diagnosed with an EDMD spectrum disease with different mutations in seven
15         A key result was that in some areas, EDMD clusters matched observed group home ranges, whilst
16 f blood cells, which suggests that autosomal EDMD is not caused by indirect reduction of emerin level
17 1 and LAP2, suggesting Lmo7 activity is both EDMD-relevant and inhibited by direct binding to emerin.
18 nctions of emerin are poorly understood, but EDMD affects mainly skeletal and cardiac muscle.
19 n, but not emerin mutant P183H (which causes EDMD and selectively disrupts binding to Lmo7), decrease
20 an wild-type and M371K lamin A, which causes EDMD.
21 popular extended dynamic mode decomposition (EDMD) algorithm.
22 tion of extended dynamic mode decomposition (EDMD) to uncover patterns relating to badger social orga
23 howed that the two nuclear envelope defects (EDMD LMNA, EDMD emerin) were highly related disorders an
24 tioselective desymmetrisation of meso-diols (EDMD) by small molecule catalysts has emerged as a power
25 knock-in mice, a model of autosomal dominant EDMD.
26 ively, cause X-linked and autosomal dominant EDMD.
27 ease in both X-linked and autosomal dominant EDMD.
28 te to disease severity in autosomal dominant EDMD.
29 linked to Emery-Dreifuss muscular dystrophy (EDMD) and centronuclear myopathy (CNM) in Drosophila and
30  dominant Emery-Dreifuss muscular dystrophy (EDMD) and related disorders with a predominant cardiomyo
31  dominant Emery-Dreifuss muscular dystrophy (EDMD) as well as dilated cardiomyopathy (DCM).
32 lies with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by em
33           Emery-Dreifuss muscular dystrophy (EDMD) is a genetically and clinically variable disorder.
34           Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous late-onset disease involving sk
35           Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder characterized by slowly p
36           Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDM
37 ly proven Emery-Dreifuss muscular dystrophy (EDMD) who followed an unusual course and had uncommon cl
38 ated with Emery-Dreifuss muscular dystrophy (EDMD) with conduction defects and dilated cardiomyopathy
39  those of Emery-Dreifuss muscular dystrophy (EDMD), caused by mutations in A-type lamins (LMNA) and o
40 t include Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscula
41 icated in Emery-Dreifuss muscular dystrophy (EDMD), one of the three major X-linked dystrophies.
42  model of Emery-Dreifuss muscular dystrophy (EDMD), we show here that lamin A loss deregulated PcG po
43 in causes Emery-Dreifuss muscular dystrophy (EDMD).
44  dominant Emery-Dreifuss muscular dystrophy (EDMD).
45 ch causes Emery-Dreifuss muscular dystrophy (EDMD).
46 A/C cause Emery-Dreifuss muscular dystrophy (EDMD).
47 ective in Emery-Dreifuss muscular dystrophy (EDMD).
48 , such as Emery-Dreifuss muscular dystrophy (EDMD).
49 of these, Emery-Dreifuss muscular dystrophy (EDMD-AD) and a form of dilated cardiomyopathy (CMD1A), i
50  dominant Emery-Dreifuss muscular dystrophy (EDMD-AD) and in dilated cardiomyopathy and conduction-sy
51 plate for establishing a biomarker panel for EDMD and direct further investigation into its pathomech
52  missense mutations that are responsible for EDMD-AD.
53 esting a simple diagnostic antibody test for EDMD families.
54 To identify disease-specific transcripts for EDMD, we applied a leave-one-out (LOO) cross-validation
55                                           In EDMD, the additional absence of lamin B1 from heart and
56  upon the hypothesis that cardiac defects in EDMD are caused by absence of emerin from intercalated d
57    We observe that Net39 is downregulated in EDMD patients, implicating Net39 in the pathogenesis of
58 the nuclear envelope and Rb and MyoD fail in EDMD at the point of myoblast exit from the cell cycle,
59 sprin-2, telethonin, and FHL-2 identified in EDMD with DCM and hypertrophic cardiomyopathy patients.
60 ition is disrupted by distinct mechanisms in EDMD and CNM.
61 , where each was specifically upregulated in EDMD.
62 125 U133A, 125 U133B microarrays), including EDMD patients with LMNA and emerin mutations.
63                                     X-linked EDMD results from mutations in emerin, a lamin A-associa
64  from Emd knockout mice, a model of X-linked EDMD, using Affymetrix GeneChips.
65 of a family with molecularly proven X-linked EDMD.
66 clude emerin mutations in suspected X-linked EDMD.
67 the two nuclear envelope defects (EDMD LMNA, EDMD emerin) were highly related disorders and were also
68 conclude that Lmo7 positively regulates many EDMD-relevant genes (including emerin), and is feedback-
69 own as autosomal dominant Emery-Dreifuss MD (EDMD-AD) and dilated cardiomyopathy and conduction-syste
70              In the three autosomal cases of EDMD, emerin was normal on western blots of blood cells,
71 human LEM2 mutations as a potential cause of EDMD and further suggest human LEM2 mutations might caus
72                 Whereas the genetic cause of EDMD has been described and the proteins well characteri
73 in complexes are discussed in the context of EDMD disease mechanisms and potential in vivo functions.
74 al contribution to the molecular etiology of EDMD.
75 ecapitulated key skeletal muscle features of EDMD, including muscle wasting, impaired muscle contract
76 A, a candidate gene for an autosomal form of EDMD.
77  a direct contributor to the pathogenesis of EDMD that acts by protecting against mechanical stress a
78  role in the muscle-specific pathogenesis of EDMD.
79 gene expression model of the pathogenesis of EDMD.
80 ients with the autosomal dominant variant of EDMD, we examined the lamin A/C gene, identifying a de-n
81                           Interestingly, one EDMD-AD mutation also interfered with the interaction be
82 sprin-2 (SYNE2) in 190 probands with EDMD or EDMD-like phenotypes identified four heterozygous missen
83 te-specific amino acid substitutions in PLD, EDMD-AD and CMD1A reveals distinct functional domains of
84      Taken together, these data suggest that EDMD may be caused, in part, by uncoupling of the nucleo
85 n of easily accessible catalysts used in the EDMD and compares their performance with the existing en
86            We found that the genes linked to EDMD and CNM were each necessary to properly position nu
87 ized in Lmna mutant cells and also linked to EDMD and DCM, restored MKL1 nuclear translocation and re
88 anifest as a dystrophic condition related to EDMD.
89                    Lmo7 appeared relevant to EDMD because a deletion that removes Lmo7 (plus eight ex
90 trophic phenotypes observed in patients with EDMD.
91 ) and nesprin-2 (SYNE2) in 190 probands with EDMD or EDMD-like phenotypes identified four heterozygou
92 -linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in emerin, a nuclea
93 1, LAP2, RBL2) known to be misregulated in X-EDMD patients and emerin-null mice was confirmed by real