ライフサイエンスコーパス: Ehlers-Danlos syndrome

1 of dysfunctional B3GalT6 (spondylodysplastic Ehlers-Danlos-syndrome).

2 V expression in the pathobiology in classic Ehlers-Danlos syndrome.

3 ar to the hypermobility phenotype in classic Ehlers-Danlos syndrome.

4 association between conjunctiovochalasis and Ehlers-Danlos syndrome.

5 ations in human Cd7 that have been linked to Ehlers-Danlos syndrome.

6 are associated with the most severe forms of Ehlers-Danlos syndrome.

7 ishes the Loeys-Dietz syndrome from vascular Ehlers-Danlos syndrome.

8 with the onset of vascular diseases such the Ehlers-Danlos syndrome.

9 lycans manifest several clinical features of Ehlers-Danlos syndrome.

10 Mutations in TNXB are a cause of Ehlers-Danlos syndrome.

11 erextensibility, similar to individuals with Ehlers-Danlos syndrome.

12 the diagnostic criteria for either Marfan or Ehlers-Danlos syndrome.

13 ty and fragility resembling certain types of Ehlers-Danlos syndrome.

14 od vessels, similar to patients with type IV Ehlers-Danlos syndrome.

15 dermal asthenia (HERDA), an equine model of Ehlers-Danlos syndromes.

16 ment Lyme disease syndrome, 163; hypermobile Ehlers-Danlos syndrome, 213; neurogenic orthostatic hypo

17 he human Col3a1 gene are associated with the Ehlers-Danlos syndrome, a connective tissue disorder tha

18 e have been implicated as a cause of type IV Ehlers-Danlos syndrome, a disease leading to aortic rupt

19 in-X deficiency in humans is associated with Ehlers-Danlos syndrome, a generalized connective tissue

20 yndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency,

21 yers in the pathogenesis of certain types of Ehlers-Danlos syndrome and other connective tissue disor

22 are involved in the human cartilage disorder Ehlers-Danlos Syndrome and other disorders associated wi

23 confirms a causative role for TNXB in human Ehlers-Danlos syndrome and suggests that tenascin-X is a

24 erlie the connective tissue disorder classic Ehlers-Danlos syndrome, and autoimmune responses against

25 Collagen V mutations underlie classic Ehlers-Danlos syndrome, and joint hypermobility is an im

26 The Ehlers-Danlos syndromes are a heterogenous group of dise

27 hough unlikely to present with frank classic Ehlers-Danlos syndrome, are likely to have fragile conne

28 sulting in spondyloepiphyseal dysplasias and Ehlers-Danlos syndrome, as well as fibrillin defects ass

29 referral center for a suspicion of vascular Ehlers-Danlos syndrome between January 2001 and March 20

30 lycystic kidney disease, Marfan syndrome, or Ehlers-Danlos syndrome; body mass index 30 or greater; u

31 in COL3A1, which is responsible for vascular Ehlers-Danlos syndrome, but arterial events are rare in

32 However, no classic Ehlers-Danlos syndrome case has yet been associated with

33 n the GALT-II gene (B3GALT6) associated with Ehlers-Danlos syndrome cause proteoglycan maturation def

34 ng to the identification of a new variant of Ehlers-Danlos syndrome causing connective tissue disrupt

35 Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragil

36 or the COL5A2 gene underlie cases of classic Ehlers-Danlos syndrome, characterized by fragile, hypere

37 chalasis who was subsequently diagnosed with Ehlers Danlos Syndrome, Classic Type.

38 he chains of Type II collagen), and vascular Ehlers-Danlos syndrome (COL3A1 encoding the chains of Ty

39 atosparaxis in animals, and a subtype of the Ehlers-Danlos syndrome (dermatosparactic type or VIIC) i

40 S-2) cause dermatosparaxis in cattle and the Ehlers-Danlos syndrome (dermatosparactic type) in humans

41 sufficient collagen V mouse model of classic Ehlers Danlos syndrome (EDS) had decreased biomechanical

42 structural parameters of collagen fibrils in Ehlers Danlos Syndrome (EDS).

43 ) locus cosegregated with the gravis form of Ehlers-Danlos syndrome (EDS) (type I) in a three generat

44 phenotype similar to some of the subtypes of Ehlers-Danlos syndrome (EDS) and cutis laxa.

45 of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or compl

46 e most commonly identified mutations causing Ehlers-Danlos syndrome (EDS) classic type result in hapl

47 Ehlers-Danlos syndrome (EDS) designates a heterogeneous

48 Ehlers-Danlos syndrome (EDS) is a genetic disease leadin

49 Ehlers-Danlos syndrome (EDS) is a genetically and pathog

50 Ehlers-Danlos syndrome (EDS) is a group of collagen diso

51 Ehlers-Danlos syndrome (EDS) is a group of connective ti

52 Ehlers-Danlos syndrome (EDS) is a heterogeneous group of

53 Vascular Ehlers-Danlos syndrome (EDS) is a rare connective tissue

54 Vascular Ehlers-Danlos syndrome (EDS) results from mutations in t

55 Ehlers-Danlos syndrome (EDS) type I (the classical varie

56 Vascular Ehlers-Danlos syndrome (EDS) type IV is the most severe

57 Ehlers-Danlos syndrome (EDS) type IV results from mutati

58 Ehlers-Danlos syndrome (EDS) types I and II, which compr

59 As in Ehlers-Danlos syndrome (EDS) VIIA/B, fibrils containing

60 type V collagen in the classical form of the Ehlers-Danlos syndrome (EDS), a heritable connective-tis

61 of FKBP22 leads to a kyphoscoliotic type of Ehlers-Danlos syndrome (EDS), and this type of EDS is cl

62 I procollagen result in the vascular form of Ehlers-Danlos syndrome (EDS), EDS type IV, if they alter

63 e been identified in some cases of classical Ehlers-Danlos syndrome (EDS), in which aberrant collagen

64 e V collagen is the primary cause of classic Ehlers-Danlos syndrome (EDS).

65 etal fragility, they have characteristics of Ehlers-Danlos syndrome (EDS).

66 disease in conjunction with the features of Ehlers-Danlos syndrome (EDS).

67 onnective tissue findings are typical of the Ehlers-Danlos syndrome (EDS).

68 The Ehlers-Danlos syndromes (EDS) are a heterogeneous group

69 Because TNXB is the first Ehlers-Danlos syndrome gene that does not encode a fibri

70 The revised diagnostic criteria for vascular Ehlers-Danlos syndrome have increased specificity, but i

71 tive tissue disorders, such as some forms of Ehlers-Danlos syndrome, have been associated with severe

72 ility Spectrum Disorder (HSD) or Hypermobile Ehlers-Danlos Syndrome (hEDS).

73 electronic medical records of patients with Ehlers-Danlos Syndrome hypermobility type (HEDS), includ

74 diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT),

75 uals from a family of three generations with Ehlers-Danlos Syndrome II.

76 causes a phenotype similar to hypermobility Ehlers-Danlos syndrome involving joint hypermobility, sk

77 tened awareness of undiagnosed or underlying Ehlers Danlos Syndrome is important for patients and pro

78 Vascular Ehlers-Danlos syndrome is a rare genetic disorder charac

79 Vascular Ehlers-Danlos syndrome is a rare inherited connective ti

80 The diagnosis of vascular Ehlers-Danlos syndrome is challenging, and patient selec

81 Binding Protein 22 kDa) cause kyphoscoliotic Ehlers-Danlos Syndrome (kEDS).

82 1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [ED

83 and in 12 probands presenting with vascular Ehlers-Danlos syndrome (Loeys-Dietz syndrome type II).

84 senting with symptoms like those of vascular Ehlers-Danlos syndrome may be used to guide therapy, inc

85 ic arterial events in patients with vascular Ehlers-Danlos syndrome on background celiprolol therapy.

86 r blocker irbesartan in adults with vascular Ehlers-Danlos syndrome on stable background celiprolol t

87 /=50 years of age with Marfan syndrome, LDS, Ehlers-Danlos syndrome, or nonspecific connective tissue

88 ited connective tissue disorders, among them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan

89 Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant d

90 fibril profiles resembled those seen in some Ehlers-Danlos Syndrome phenotypes.

91 primary outcome was defined as any vascular Ehlers-Danlos syndrome-related fatal or nonfatal arteria

92 cause the spondylocheiro dysplastic form of Ehlers-Danlos syndrome (SCD-EDS), a heritable connective

93 yndrome types 1, 2, and 2B; Marfan syndrome; Ehlers-Danlos syndrome type 4; and juvenile glaucoma.

94 ernias resembling symptoms of a mild form of Ehlers-Danlos syndrome type III.

95 index patients with biochemically confirmed Ehlers-Danlos syndrome type IV and 199 of their affected

96 Ehlers-Danlos syndrome type IV results from mutations in

97 ve the first and second major complications, Ehlers-Danlos syndrome type IV results in premature deat

98 Ehlers-Danlos syndrome type IV, the vascular type, resul

99 ovascular complications, Marfan syndrome and Ehlers-Danlos syndrome type IV.

100 proven to be a powerful diagnostic test for Ehlers-Danlos syndrome type IV.

101 diagnosis of a patient with the phenotype of Ehlers-Danlos syndrome type VI was confirmed biochemical

102 tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VIIB.

103 8), Turner syndrome (TS) (n = 298), vascular Ehlers-Danlos syndrome (vEDS) (n = 149), and Loeys-Dietz

104 Vascular Ehlers-Danlos syndrome (VEDS) causes reduced life expect

105 Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissu

106 Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connecti

107 Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connec

108 Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant c

109 The vascular type of the Ehlers-Danlos syndrome (vEDS) is caused by dominant-nega

110 inates in vascular walls, result in vascular Ehlers-Danlos syndrome (vEDS), leading to arterial, uter

111 in the ADAMTS-2 gene in dermatosparaxis and Ehlers-Danlos syndrome VIIC show this enzyme to be respo

112 poor wound healing and wide scar morphology, Ehlers-Danlos syndrome was confirmed in the patient.

113 c overlap between this syndrome and vascular Ehlers-Danlos syndrome, we screened an additional cohort

114 This series describes patients with Ehlers Danlos Syndrome whose diagnosis was discovered in

115 ional cohort of 40 patients who had vascular Ehlers-Danlos syndrome without the characteristic type I