ライフサイエンスコーパス: laminopathy

1 mouse provides a novel model of human OM and laminopathy.

2 pathological abnormalities characteristic of laminopathy.

3 restrictive dermopathy as a lethal neonatal laminopathy.

4 ciated with FXTAS may represent a functional laminopathy.

5 and a subset of the disorder can be judged a laminopathy.

6 issue-specific disorders collectively called laminopathies.

7 se a variety of diseases collectively called laminopathies.

8 s accelerate the pathological progression of laminopathies.

9 atform for studies of the molecular basis of laminopathies.

10 ne protein SUN1 drives pathology in multiple laminopathies.

11 nstrate that miRNA expression is affected in laminopathies.

12 tissue-specific degenerative diseases termed laminopathies.

13 s of other mutations causing a wide range of laminopathies.

14 an A-type lamin gene lead to diseases called laminopathies.

15 understanding the mechanistic basis of human laminopathies.

16 ogy reminiscent of those observed in diverse laminopathies [14-16].

17 te to the disease development, especially in laminopathies affecting mechanically stressed tissue suc

18 suggest alternative strategies for treating laminopathies and aging.

19 dence that tauopathies are neurodegenerative laminopathies and identifies a new pathway mediating neu

20 A useful model for understanding both laminopathies and lamin A/C function is the Lmna(-/-) mo

21 Here, we review the laminopathies and the long strange trip from basic cell

22 NE) rupture and repair have been observed in laminopathy and cancer cells and result in intermittent

23 retina with definable transitions to severe laminopathy and visual loss.

24 artmentalization is associated with cancers, laminopathies, and aging.

25 itical role in development, virus infection, laminopathies, and cancer.

26 Laminopathies are a collection of phenotypically diverse

27 Laminopathies are caused by >300 distinct mutations in t

28 emerin in cell polarization and suggest that laminopathies are not directly associated with cells' in

29 sis for the pronounced tissue specificity of laminopathies are poorly understood.

30 To understand how the laminopathies arise from different mutations in a single

31 One of these laminopathies associated with missense mutations in LMNA

32 other pathological features mimicking human laminopathy associated with the LMNA mutation.

33 Laminopathy-associated mutations predicted to reduce ZMP

34 L and hyperthick INL were features of severe laminopathy at further eccentricities into the transitio

35 al progress in our understanding of not only laminopathies, but also the biological roles of nuclear

36 eatures of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lam

37 s indicate that RD is an autosomal recessive laminopathy caused by inactivating ZMPSTE24 mutations th

38 Laminopathies, caused by mutations in A-type nuclear lam

39 Laminopathies, caused by mutations in the LMNA gene enco

40 Our results link a laminopathy-causing lamin A mutation to an unsuspected d

41 s appears at all stages of disease and inner laminopathy complicates the phenotype at later stages.

42 Mutations in LMNA are associated with the laminopathies, congenital diseases affecting tissue rege

43 Fibroblasts from patients with the severe laminopathy diseases, restrictive dermopathy (RD) and Hu

44 ption for individuals with HGPS and/or other laminopathies due to Zmpste24 processing defects.

45 Laminopathies encompass a wide array of human diseases a

46 tulate the defective nuclear organization of laminopathies, featuring disruption of the actin cap.

47 ectrum, prognosis, and clinical relevance of laminopathies in DCM are unknown.

48 A and C, cause a panoply of human diseases ("laminopathies"), including muscular dystrophy, cardiomyo

49 atin organization associated with cancer and laminopathies, including the premature-aging disease Hut

50 , and they identify a potential mechanism of laminopathy involving a B-type lamin.

51 cellular consequence of lamin dysfunction in laminopathies is relaxation of heterochromatic DNA [1].

52 These disorders, often called "laminopathies," mainly affect mesenchymal tissues (e.g.,

53 fects of lamin A/C mutations observed in the laminopathies may arise from varying degrees of impaired

54 intriguing possibility that fat loss seen in laminopathies may be caused, at least in part, by reduce

55 mutations seen in many clinically disparate laminopathies may similarly alter Rb function, with rega

56 Laminopathy occurred first in more peripheral rod-rich r

57 Using skin fibroblasts from laminopathy patients and lamin A/C-deficient mouse embry

58 ese features resemble the pathology of human laminopathies, possibly revealing some profound patholog

59 s into possible disease mechanisms for human laminopathies, ranging from muscular dystrophy to accele

60 is and that HEM dysplasia and ichthyosis are laminopathies rather than inborn errors of cholesterol s

61 fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes.

62 ns to cellular viability can be gleaned from laminopathies, severe disorders caused by mutations in g

63 PSTE24 lead to diseases of lamin processing (laminopathies), such as the premature aging disease prog

64 1 mutant phenotypes are reminiscent of human laminopathies, suggesting that studies in Drosophila wil

65 in genes encoding LEM-D proteins cause human laminopathies that are associated with tissue-restricted

66 Human LMNA gene mutations result in laminopathies that include Emery-Dreifuss muscular dystr

67 s referred to as "nuclear envelopathies" or "laminopathies" that affect different tissues and organ s

68 in disparate diseases, known collectively as laminopathies, that affect distinct tissues, including s

69 e out links between altered pRB function and laminopathies, they fail to support such an assertion.

70 NL) and autofluorescence of the RPE melanin; laminopathy was found in the scotomas.

71 Because of the dominant family history, a laminopathy was suspected and a mutation in exon 11 of t

72 o a variety of degenerative disorders termed laminopathies, whereas changes in the expression of lami

73 aetiology for the cardiac phenotype in many laminopathies, whereby lamin A/C and emerin regulate gen

74 typically diverse genetic disorders known as laminopathies, which have symptoms that range from muscu

75 A/C (LMNA) gene-encoding nuclear LMNA cause laminopathies, which include partial lipodystrophies ass

76 LMNA) cause several disorders referred to as laminopathies, which include premature aging syndromes,

77 A gene, encoding A-type lamins, give rise to laminopathies, which include several types of muscular d