ライフサイエンスコーパス: Ehlers-Danlos syndrome

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

2 association between conjunctiovochalasis and Ehlers-Danlos syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

36 Ehlers-Danlos syndrome (EDS) designates a heterogeneous

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

59 1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [ED

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

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

62 /=50 years of age with Marfan syndrome, LDS, Ehlers-Danlos syndrome, or nonspecific connective tissue

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

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

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

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

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

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

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

70 Ehlers-Danlos syndrome type IV results from mutations in

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

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

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

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

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

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

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

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

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

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

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

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