ライフサイエンスコーパス: EDMD

1 EDMD is also caused by X-linked recessive loss-of-functi

2 EDMD-linked genes were necessary for the initial separat

3 AD-EDMD patients with LMNA mutations show the same cellular

4 nclude Emery-Dreifuss muscular dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature agi

5 minant Emery-Dreifuss muscular dystrophy (AD-EDMD), which affects skeletal and cardiac muscle.

6 oid LmnaDelta9 mutant mice are models for AD-EDMD and HGPS, respectively.

7 MJs) are part of the disease mechanism in AD-EDMD.

8 isms for the muscle-specific phenotype of AD-EDMD.

9 /C-mediated NMJ defects contribute to the AD-EDMD disease phenotype and provide insights into the cel

10 ons show the same cellular defects as the AD-EDMD mouse models.

11 Two AD-EDMD mouse models show innervation defects including mis

12 ing interactions were common features of all EDMD patient fibroblasts.

13 f blood cells, which suggests that autosomal EDMD is not caused by indirect reduction of emerin level

14 1 and LAP2, suggesting Lmo7 activity is both EDMD-relevant and inhibited by direct binding to emerin.

15 nctions of emerin are poorly understood, but EDMD affects mainly skeletal and cardiac muscle.

16 n, but not emerin mutant P183H (which causes EDMD and selectively disrupts binding to Lmo7), decrease

17 an wild-type and M371K lamin A, which causes EDMD.

18 howed that the two nuclear envelope defects (EDMD LMNA, EDMD emerin) were highly related disorders an

19 tioselective desymmetrisation of meso-diols (EDMD) by small molecule catalysts has emerged as a power

20 knock-in mice, a model of autosomal dominant EDMD.

21 ively, cause X-linked and autosomal dominant EDMD.

22 ease in both X-linked and autosomal dominant EDMD.

23 te to disease severity in autosomal dominant EDMD.

24 linked to Emery-Dreifuss muscular dystrophy (EDMD) and centronuclear myopathy (CNM) in Drosophila and

25 dominant Emery-Dreifuss muscular dystrophy (EDMD) and related disorders with a predominant cardiomyo

26 dominant Emery-Dreifuss muscular dystrophy (EDMD) as well as dilated cardiomyopathy (DCM).

27 lies with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by em

28 Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous late-onset disease involving sk

29 Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder characterized by slowly p

30 ly proven Emery-Dreifuss muscular dystrophy (EDMD) who followed an unusual course and had uncommon cl

31 t include Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscula

32 icated in Emery-Dreifuss muscular dystrophy (EDMD), one of the three major X-linked dystrophies.

33 in causes Emery-Dreifuss muscular dystrophy (EDMD).

34 dominant Emery-Dreifuss muscular dystrophy (EDMD).

35 ch causes Emery-Dreifuss muscular dystrophy (EDMD).

36 A/C cause Emery-Dreifuss muscular dystrophy (EDMD).

37 ective in Emery-Dreifuss muscular dystrophy (EDMD).

38 of these, Emery-Dreifuss muscular dystrophy (EDMD-AD) and a form of dilated cardiomyopathy (CMD1A), i

39 dominant Emery-Dreifuss muscular dystrophy (EDMD-AD) and in dilated cardiomyopathy and conduction-sy

40 missense mutations that are responsible for EDMD-AD.

41 esting a simple diagnostic antibody test for EDMD families.

42 To identify disease-specific transcripts for EDMD, we applied a leave-one-out (LOO) cross-validation

43 In EDMD, the additional absence of lamin B1 from heart and

44 upon the hypothesis that cardiac defects in EDMD are caused by absence of emerin from intercalated d

45 the nuclear envelope and Rb and MyoD fail in EDMD at the point of myoblast exit from the cell cycle,

46 ition is disrupted by distinct mechanisms in EDMD and CNM.

47 , where each was specifically upregulated in EDMD.

48 125 U133A, 125 U133B microarrays), including EDMD patients with LMNA and emerin mutations.

49 X-linked EDMD results from mutations in emerin, a lamin A-associa

50 from Emd knockout mice, a model of X-linked EDMD, using Affymetrix GeneChips.

51 of a family with molecularly proven X-linked EDMD.

52 clude emerin mutations in suspected X-linked EDMD.

53 the two nuclear envelope defects (EDMD LMNA, EDMD emerin) were highly related disorders and were also

54 conclude that Lmo7 positively regulates many EDMD-relevant genes (including emerin), and is feedback-

55 own as autosomal dominant Emery-Dreifuss MD (EDMD-AD) and dilated cardiomyopathy and conduction-syste

56 In the three autosomal cases of EDMD, emerin was normal on western blots of blood cells,

57 human LEM2 mutations as a potential cause of EDMD and further suggest human LEM2 mutations might caus

58 Whereas the genetic cause of EDMD has been described and the proteins well characteri

59 in complexes are discussed in the context of EDMD disease mechanisms and potential in vivo functions.

60 A, a candidate gene for an autosomal form of EDMD.

61 role in the muscle-specific pathogenesis of EDMD.

62 gene expression model of the pathogenesis of EDMD.

63 ients with the autosomal dominant variant of EDMD, we examined the lamin A/C gene, identifying a de-n

64 Interestingly, one EDMD-AD mutation also interfered with the interaction be

65 sprin-2 (SYNE2) in 190 probands with EDMD or EDMD-like phenotypes identified four heterozygous missen

66 te-specific amino acid substitutions in PLD, EDMD-AD and CMD1A reveals distinct functional domains of

67 Taken together, these data suggest that EDMD may be caused, in part, by uncoupling of the nucleo

68 n of easily accessible catalysts used in the EDMD and compares their performance with the existing en

69 We found that the genes linked to EDMD and CNM were each necessary to properly position nu

70 ized in Lmna mutant cells and also linked to EDMD and DCM, restored MKL1 nuclear translocation and re

71 anifest as a dystrophic condition related to EDMD.

72 Lmo7 appeared relevant to EDMD because a deletion that removes Lmo7 (plus eight ex

73 trophic phenotypes observed in patients with EDMD.

74 ) and nesprin-2 (SYNE2) in 190 probands with EDMD or EDMD-like phenotypes identified four heterozygou

75 -linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in emerin, a nuclea

76 1, LAP2, RBL2) known to be misregulated in X-EDMD patients and emerin-null mice was confirmed by real