ライフサイエンスコーパス: collagen VI

1 that includes a subunit of the nonfibrillar collagen VI.

2 cellular matrix including an accumulation of Collagen VI.

3 y stages through secretion and processing of collagen VI.

4 utations in the extracellular matrix protein collagen VI.

5 scle and connective tissue have mutations in collagen VI.

6 nes in breast cancer and is coexpressed with collagen VI.

7 sive or dominant mutations in genes encoding collagen VI.

8 and its response to rescue agents other than collagen VI.

9 keratan sulfate, collagen I, collagen V, and collagen VI.

10 Collagen VI, a collagen with uncharacteristically large

11 mal collagen revealed a relative increase in collagen VI, accompanied by a decrease in collagen I, in

12 The identification of three novel long collagen VI alpha chains, alpha4, alpha5, and alpha6, le

13 XR1 by its natural ligand C5A, a fragment of collagen VI alpha3, increased stem cell self-renewal in

14 of NG2 also appears responsible for loss of collagen VI anchorage, in turn leading to reduced collag

15 mmunolabeled for collagenase, insulin, CK19, collagen VI and CD31, then assessed by confocal microsco

16 Localization of collagen VI and fibrillin within the gradient was achiev

17 Collagen VI and fibronectin mRNA expression increased in

18 alpha 2 chain, for all three alpha chains of collagen VI and for integrin alpha 2.

19 Unlike both Fras1 and Grip1 mutants, collagen VI and Fras1 deposition in the basement membran

20 Collagen VI and laminin protein levels were increased in

21 in the glomerular ECM together with abundant collagen VI and TINAGL1.

22 ead throughout the pancreas, associated with collagen VI, and adjacent to CK19-labeled ducts.

23 alpha 1/2(IV), appearance of fibronectin and collagen VI, and increased levels of perlecan.

24 ncluding genes for known binding partners of collagen VI, and those enzymes involved in its correct p

25 By qPCR, increases in levels of periostin, collagen VI, and transforming growth factor beta1 were l

26 These results identify collagen VI as an important component of the neuronal in

27 igands and identified the alpha 3 subunit of collagen VI as an interacting partner.

28 ins known to be involved in trimerization of collagen VI, as well as in collagen VII.

29 mportant for intracellular and extracellular collagen VI assembly and emphasize the importance of mol

30 VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular m

31 may substitute for the long alpha3 chain in collagen VI assembly.

32 Reduction of collagen VI augmented Abeta neurotoxicity, whereas treat

33 y, whereas treatment of neurons with soluble collagen VI blocked the association of Abeta oligomers w

34 affected, although heterozygous mutations in collagen VI caused Bethlem myopathy.

35 However, how loss of collagen VI causes mitochondrial dysfunction remains to

36 n summary, the discovery of three additional collagen VI chains doubles the collagen VI family and ad

37 Collagen VI (COL6) is highly expressed in adipose tissue

38 acellular matrix-associated genes, including collagen VI, collagen III, and tissue inhibitor of metal

39 Mean islet area and the proportional collagen VI content in specimens from younger subjects w

40 m CR increased the satellite cell number and collagen VI content of muscle, but resulted in a delayed

41 However, the proportional collagen VI content was not dependent on the age of the

42 cells in culture and is not specific to the collagen VI defect, and can in any case be rescued by a

43 ntly into microfibrils and there is a severe collagen VI deficiency in the extracellular matrix.

44 me in collagen VI-null mice, confirming that collagen VI-dependent basal lamina assembly is a critica

45 e coverage of endothelial cells) showed that collagen VI-dependent defects during the assembly of the

46 amino-telopeptide of type 1 collagen (ICTP), collagen VI, desmosine, matrix metalloproteinase 2 (MMP-

47 Although the ablation of collagen VI did not alter the abundance of blood vessels

48 he development of a mouse model for dominant collagen VI disorders by deleting exon 16 in the Col6a3

49 f molecular investigations for families with collagen VI disorders to ensure accurate diagnosis and g

50 developing treatment strategies for dominant collagen VI disorders.

51 ed Emery-Dreifuss muscular dystrophy and the collagen VI disorders.

52 Immuno-EM of collagen VI extracted from tissue revealed that like the

53 ee additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to col

54 compound heterozygous mutations in COL6A3, a collagen VI gene associated previously with muscular dys

55 ich can be caused by mutations in one of the collagen VI genes (COL6A1, COL6A2 and COL6A3).

56 We report the identification of three new collagen VI genes at a single locus on human chromosome

57 Mutations in any of the three collagen VI genes cause congenital muscular dystrophy ty

58 Dominant mutations in all three collagen VI genes had previously been associated with th

59 Dominant and recessive mutations in collagen VI genes, COL6A1, COL6A2, and COL6A3, cause a c

60 Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been

61 Collagen VI has a ubiquitous distribution throughout con

62 es of laminin alpha2, alpha-dystroglycan, or collagen VI in 50% of patients.

63 We hypothesized that a reduction of Collagen VI in a muscular dystrophy model that presents

64 obtain new insights into the organisation of collagen VI in assembled microfibrils.

65 agenases, targeting major substrates such as collagen VI in order to improve clinical islet isolation

66 leading to a loss of normal localization of collagen VI in the basement membrane surrounding muscle

67 sociated with a deficiency or dysfunction of collagen VI in the extracellular matrix of muscle are co

68 se in mice and involves deposition of excess collagen VI in the intestine by migrating ENS precursors

69 ibroblasts (the predominant source of muscle collagen VI), in myoblast cells from patients with other

70 Collagen VI is a highly enriched extracellular matrix co

71 Collagen VI is a major component of the islet-exocrine i

72 This appears to be due to the fact that collagen VI is a poor substratum for supporting eNCC mig

73 Collagen VI is a ubiquitously expressed extracellular mi

74 Collagen VI is abundantly expressed in adipocytes.

75 Collagen VI is an integral part of the skeletal muscle e

76 Some collagen VI is assembled, albeit more slowly than normal

77 repertoire of matrix constituents (decorin, collagen VI, laminin alpha2, endostatin, endorepellin, a

78 h encode the extra-cellular matrix component collagen VI, lead to Bethlem myopathy and Ullrich congen

79 Increased collagen VI levels during development mainly result in s

80 uced to 57-73% of the control, but long term collagen VI matrix depositions are comparable with that

81 In conclusion, our results reveal that Collagen VI-mediated fibrosis contributes to skeletal mu

82 Large collagen VI microfibrillar aggregates were present at th

83 ed and exerted a dominant-negative effect on collagen VI microfibrillar assembly.

84 e mutant mice are deficient in extracellular collagen VI microfibrils and exhibit myopathic features,

85 method is described for the purification of collagen VI microfibrils and fibrillin-containing microf

86 these aggregates and enabled purification of collagen VI microfibrils at a density of 1.33 g/ml.

87 nerated three-dimensional reconstructions of collagen VI microfibrils using automated electron tomogr

88 are also specifically surrounded by abundant collagen VI microfibrils, an outcome accentuated by Down

89 1(VI) and alpha2(VI) chains to form trimeric collagen VI molecules that were secreted from the cell.

90 he chain from assembling into triple-helical collagen VI molecules.

91 ferator-activated receptor gamma1 and higher collagen VI mRNA expression, which correlated with AT pO

92 s, we have generated zebrafish models of the collagen VI myopathies.

93 ion-dependent adhesion site, resulting in a collagen VI network containing thick fibrils and spots w

94 oduced a twofold decrease in tumor volume in collagen VI-null mice, confirming that collagen VI-depen

95 lanoma tumors in the brains of wild-type and collagen VI-null mice.

96 In 12-day collagen VI-null tumors, vascular endothelial growth fac

97 l size was correspondingly reduced in 12-day collagen VI-null tumors.

98 icating a distinct tissue-specific effect of collagen VI on collagen I fibrillogenesis.

99 Collagen VI promotes its growth-stimulatory and pro-surv

100 The mean peri-islet collagen VI proportion was significantly greater than th

101 on of Col6a4 expression that increases total collagen VI protein levels in the extracellular matrix (

102 Collagen VI-related myopathies are disorders of connecti

103 for the genetic evaluation of patients with collagen VI-related myopathies as well as for potential

104 ion in correlation to motor abilities in the collagen VI-related myopathies by analysing longitudinal

105 ar matrix of muscle are collectively termed 'collagen VI-related myopathies' and include Ullrich cong

106 our knowledge of the natural history of the collagen VI-related myopathies, enabling proactive optim

107 se patients were categorized as intermediate collagen VI-related myopathy and the remaining patients

108 s (+/-4.0) and in patients with intermediate collagen VI-related myopathy by 20.7 years (+/-1.5).

109 ion with motor function profiles to stratify collagen VI-related myopathy patients phenotypically.

110 genetically and/or pathologically confirmed collagen VI-related myopathy patients were performed at

111 imaging, pointed towards Bethlem myopathy, a collagen VI-related myopathy, we pursued Sanger sequenci

112 Mutations in collagen VI result in either Ullrich congenital muscular

113 The absence of collagen VI results in the uninhibited expansion of indi

114 The minute amount of collagen VI secreted by the R876S fibroblasts was solely

115 , kallekrein-14, serpin B6, tetranectin, and collagen VI showed a bias for reduction.

116 animals exposed to WNT-974, deletion of the collagen VI subunit, COL6A1, has been shown to decrease

117 Collagen VI tetramers containing the alpha2(VI) C2a chai

118 In 7-day tumors in the absence of collagen VI, the width of the vascular basal lamina was

119 In addition to rescue by cyclosporine A and collagen VI, this cellular phenotype was also rescued by

120 ease, increased mouse neuronal expression of collagen VI through a mechanism involving transforming g

121 llary acidic protein staining, and spread of collagen VI vascular immunolabeling.

122 istribution of the alpha3(VI)-like chains of collagen VI was not altered in mutant mice during develo

123 hese two patients, secretion and assembly of collagen VI were moderately affected by the E624K mutati

124 N- and C-terminal globular regions of collagen VI were recombinantly expressed and studied by