ライフサイエンスコーパス: Alport syndrome

1 ften associated with sensorineural deafness (Alport syndrome).

2 ovision of appropriate genetic counseling in Alport syndrome.

3 the routine diagnosis of autosomal recessive Alport syndrome.

4 in this GBM architecture in a mouse model of Alport syndrome.

5 graft in transplanted patients with X-linked Alport syndrome.

6 support for testing cell-based therapies for Alport syndrome.

7 fibrosis in Col4A3-/- mice, a mouse model of Alport syndrome.

8 erring therapeutic benefit for patients with Alport syndrome.

9 failure in patients with autosomal recessive Alport syndrome.

10 ed in glomeruli of both humans and dogs with Alport syndrome.

11 the glomerular basement membrane (GBM) cause Alport syndrome.

12 omponent of two different diseases, PPCD and Alport syndrome.

13 y diseases, including disease progression of Alport syndrome.

14 alpha3, alpha4, alpha5, and alpha6 chains in Alport syndrome.

15 on of glomerulonephritis in a mouse model of Alport syndrome.

16 ne (GBM) at 2 weeks of age resemble those in Alport syndrome.

17 several features of the GBM abnormalities of Alport syndrome.

18 lpha4(IV) chains in the GBM of patients with Alport syndrome.

19 lomerular basement membrane of patients with Alport syndrome.

20 ults in a delayed onset renal disease called Alport syndrome.

21 the basis for organ involvement in X-linked Alport syndrome, a disorder in which these genes are mut

22 This function is impaired in Alport syndrome, a hereditary disorder that is caused by

23 n in the glomerular basement membrane causes Alport syndrome, a hereditary glomerulonephritis progres

24 In Alport syndrome, a progressive disease primarily affecti

25 Using a mouse model of Alport syndrome and an inducible transgene system, we fo

26 l4a3(-/-) mouse model of autosomal recessive Alport syndrome and increased proteinuria in Col4a5(+/-)

27 males; the treatment of males with X-linked Alport syndrome and individuals with autosomal recessive

28 ng as the gold standard for the diagnosis of Alport syndrome and the demonstration of its mode of inh

29 s of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenbu

30 maly, Fechtner syndrome, Sebastian syndrome, Alport syndrome, and Epstein syndrome are commonly chara

31 hropathy, Denys-Drash, diabetic nephropathy, Alport syndrome, and other diseases related to the inter

32 ly high, and the autosomal dominant forms of Alport syndrome appear more frequently than reported pre

33 s from a patient who had autosomal recessive Alport syndrome (ARAS) and developed posttransplantation

34 5 and COL4A6 on chromosome Xq22 give rise to Alport syndrome (AS) and associated diffuse leiomyomatos

35 hin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephrop

36 s in the COL4A5 gene, located at Xq22, cause Alport syndrome (AS), a nephritis characterized by progr

37 ogression to kidney failure in patients with Alport syndrome but is not a cure.

38 eviously generated a knockout mouse model of Alport syndrome by mutating Col4a3.

39 including defects in molecular filtration in Alport syndrome, cell differentiation in hereditary leio

40 Here, we used a mouse model of Alport syndrome, Col4a5(-/-) mice, to determine whether

41 This new animal model of Alport syndrome, Col4Delta3-4, lacks both alpha3 and alp

42 nes have been identified for Usher syndrome, Alport syndrome, deafness with fixation of the stapes an

43 play a renal phenotype strikingly similar to Alport syndrome: decreased glomerular filtration (leadin

44 females that exhibit a mild form of X-linked Alport syndrome due to mosaic deposition of collagen alp

45 rogression of renal fibrosis in animals with Alport Syndrome, enhancing kidney function and improving

46 onset and severity observed in patients with Alport syndrome, even for family members who share the s

47 the affected mothers of males with X-linked Alport syndrome from renal donation because of their own

48 ry) binding site for TCF8 in the promoter of Alport syndrome gene COL4A3, which encodes collagen type

49 An independent cohort of patients with Alport syndrome had a 23-fold increase in urinary podocy

50 Fifteen percent of patients with Alport syndrome have autosomal recessive inheritance cau

51 Animal models of Alport syndrome have begun to provide insights into the

52 Alport syndrome, hereditary glomerulonephritis with hear

53 Their disease is analogous to Alport syndrome in humans, and they also serve as a good

54 ation of genetic testing to exclude X-linked Alport syndrome in some individuals with thin basement m

55 49R mutation is a relatively common cause of Alport syndrome in the western United States, in part be

56 t with skin and glomerulus of a patient with Alport syndrome in which the basement membranes are devo

57 l affected members of a family with X-linked Alport syndrome, including most mothers of affected male

58 Alport syndrome is a common hereditary basement membrane

59 Alport syndrome is a genetic disorder resulting from mut

60 Alport syndrome is a glomerular basement membrane (GBM)

61 Alport syndrome is a hereditary disorder of basement mem

62 Alport syndrome is a hereditary glomerular disease that

63 Alport syndrome is a human hereditary glomerulonephritis

64 Alport syndrome is an inherited disease characterized by

65 Alport syndrome is an inherited nephropathy associated w

66 Autosomal recessive Alport syndrome is suspected in consanguineous families

67 In Alport syndrome, lack of tolerance toward alpha345(IV) c

68 te that the irregular GBM that characterizes Alport syndrome may be mediated, in part, by focal degra

69 ggesting that mutations in the NC1 domain in Alport syndrome may disrupt the assembly of the alpha3.a

70 xamine the glomerulopathy in a Col4a3 mutant/Alport syndrome mouse model.

71 In Alport syndrome, mutations in any of the genes encoding

72 r studies of a gene knockout mouse model for Alport syndrome noted thickening of strial capillary bas

73 finding could help explain the wide range of Alport syndrome onset and severity observed in patients

74 he diagnosis and management of patients with Alport syndrome or thin basement membrane nephropathy.

75 as diabetic nephropathy, chronic rejection, Alport syndrome, polycystic kidney disease, and inherite

76 3(-/-) mice, a model for autosomal recessive Alport syndrome, progress to renal failure significantly

77 Patients with Alport syndrome progressively lose renal function as a r

78 t collagen type 4 alpha3-deficient mice with Alport syndrome-related progressive CKD displayed system

79 IgA nephropathy, Goodpasture's syndrome, and Alport syndrome renal epithelium.

80 Alport syndrome results from mutations in genes encoding

81 -scanning electron microscopy to investigate Alport syndrome, the commonest monogenic glomerular dise

82 e were bred with Col4a3-/- mice, a model for Alport syndrome, to determine whether gelB influences th

83 collagen (Col4A3 knockout mice), a model for Alport syndrome, transplantation of wild-type bone marro

84 bodies from renal transplant recipients with Alport syndrome was decreased, whereas epitope binding t

85 A mouse model for the autosomal form of Alport syndrome was produced.

86 th X-linked and autosomal-recessive forms of Alport syndrome were examined by immunofluorescence for

87 merular basement membrane lesions typical of Alport syndrome were significantly more frequent in homo

88 openia syndromes: Epstein syndrome (EPS) and Alport syndrome with macrothrombocytopenia (APSM).

89 e pathogenesis of end-stage renal disease in Alport syndrome, with potentially important implications

90 from the glomeruli in patients with X-linked Alport syndrome (XAS).

91 Some patients with X-linked Alport syndrome (XLAS) develop post-transplant nephritis

92 X-linked Alport syndrome (XLAS) is a progressive disorder of base

93 t in the diagnosis and prognosis of X-linked Alport syndrome (XLAS).

94 Mutations in the COL4A5 gene cause X-linked Alport syndrome (XLAS).