ライフサイエンスコーパス: Alport syndrome

1 ften associated with sensorineural deafness (Alport syndrome).

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

3 OL4A3/A4/A5 genes, which are also mutated in Alport syndrome.

4 disease: Adriamycin-induced nephropathy and Alport Syndrome.

5 cell cycle indicator) of mice with X-linked Alport Syndrome.

6 clinical translation of chaperone therapy in Alport syndrome.

7 so non-diabetic glomerular disease including Alport syndrome.

8 ubular injury in the genetic murine model of Alport syndrome.

9 vestigation of its role in a murine model of Alport syndrome.

10 t baseline in mice with experimental DKD and Alport syndrome.

11 a mediator of disease progression in DKD and Alport syndrome.

12 titutions in X-linked and autosomal dominant Alport syndrome.

13 e useful for the early clinical treatment of Alport syndrome.

14 r vehicles in gene therapy for patients with Alport syndrome.

15 es to glomerular injury and renal decline in Alport Syndrome.

16 ds promise for progressive kidney disease in Alport syndrome.

17 ovision of appropriate genetic counseling in Alport syndrome.

18 the routine diagnosis of autosomal recessive Alport syndrome.

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

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

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

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

23 erring therapeutic benefit for patients with Alport syndrome.

24 failure in patients with autosomal recessive Alport syndrome.

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

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

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

28 ailure in Col4a3(-/-) mice, a model of human Alport syndrome.

29 y diseases, including disease progression of Alport syndrome.

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

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

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

33 several features of the GBM abnormalities of Alport syndrome.

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

35 lomerular basement membrane of patients with Alport syndrome.

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

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

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

39 In Alport syndrome, a progressive disease primarily affecti

40 In Alport syndrome, affecting millions of people worldwide,

41 L and fetal PregnAncy outcomes of women with AlpoRT syndrome), an international collaboration of 17 c

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

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

44 ssion of kidney disease in mice with DKD and Alport syndrome and increases lifespan in Alport syndrom

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

46 Mouse models of Alport Syndrome and models with either podocyte-specific

47 s have been identified as critical causes of Alport syndrome and other genetic chronic kidney disease

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

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

50 ts in this study had not been diagnosed with Alport syndrome, and consequently, many had not received

51 membrane diseases, Goodpasture's disease and Alport syndrome, and determined the long-awaited crystal

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

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

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

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

56 ch, we show that men and women with X-linked Alport syndrome are at higher risk of related phenotypic

57 The population frequencies for Alport syndrome are suggested by the frequencies of pred

58 c disorders, such as retinitis pigmentosa or Alport syndrome, are caused by the co-inheritance of DNA

59 5 and COL4A6 on chromosome Xq22 give rise to Alport syndrome (AS) and associated diffuse leiomyomatos

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

61 How GEC affect the pathology of Alport syndrome (AS) however, is unclear.

62 Alport syndrome (AS) is a hereditary nephropathy caused

63 , variants in COL4A3, COL4A4 or COL4A5 cause Alport syndrome (AS), a disorder of variable severity th

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

65 Alport syndrome (AS), a rare disease of basement membran

66 ane diseases, Goodpasture's disease (GP) and Alport syndrome (AS), and phenocopies of AS in knock-in

67 sm and podocyte lipotoxicity in experimental Alport syndrome (AS).

68 tion in women with COL4A3-5 related disease (Alport Syndrome, (AS)) in a large multicenter cohort.

69 lpha 3 alpha 4 alpha 5(IV) is synthesized in Alport syndrome because of missense variants.

70 models of triple-negative breast cancer and Alport Syndrome, both caused by miR-21 overexpression.

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

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

73 diabetic db/db mice, mice with experimental Alport syndrome, C57BL/6 mice, and STING knockout mice t

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

75 glomerular disease, we used a mouse model of Alport syndrome (Col4a5 G5X) which were treated with met

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

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

78 Our knowledge of X-linked Alport syndrome comes mostly from selected cohorts with

79 rotein in podocytes in G1, in a patient with Alport Syndrome, confirming our proteomics data in the h

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

81 tor of proteinuria and podocyte integrity in Alport Syndrome, decoupling proteinuria from kidney fail

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

83 ing a therapeutic strategy for patients with Alport syndrome depends on understanding these mechanism

84 of a 24-year-old male patient with X-linked Alport syndrome diagnosis due to a COL4A5 pathogenic mut

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

86 or biallelic) or male patients with X-linked Alport syndrome due to protein-truncating variants.

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

88 hogenesis of kidney injuries associated with Alport syndrome, especially in glomeruli, and suggested

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

90 .G799R) identified previously from one large Alport syndrome family into mice.

91 Alport syndrome features a defective glomerular basement

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

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

94 ffolds and to develop therapies for managing Alport syndrome, Goodpasture's disease, and cancerous tu

95 nd developing therapies for diseases such as Alport syndrome, Gould syndrome, psoriasis, eye abnormal

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

97 ons in collagen genes and the development of Alport Syndrome has been clearly established and a numbe

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

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

100 Alport syndrome, hereditary glomerulonephritis with hear

101 Archived Alport Syndrome human biopsies were used for immunohisto

102 ssion of glomerular diseases such as DKD and Alport syndrome, immortalized human and murine podocytes

103 begin dissecting the pathogenesis of murine Alport Syndrome in detail.

104 y nephropathy (XLHN) are an animal model for Alport syndrome in humans and progressive chronic kidney

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

106 examined the phenotypic spectrum of X-linked Alport syndrome in men and women with a genotype-based a

107 t mediate the development and progression of Alport syndrome in mice.

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

109 49R mutation is a relatively common cause of Alport syndrome in the western United States, in part be

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

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

112 Alport syndrome is a common hereditary basement membrane

113 Alport syndrome is a genetic disorder characterized by a

114 Alport syndrome is a genetic disorder resulting from mut

115 X-linked Alport syndrome is a genetic kidney disease caused by pa

116 Alport syndrome is a glomerular basement membrane (GBM)

117 Alport syndrome is a hereditary disorder of basement mem

118 Alport syndrome is a hereditary glomerular disease that

119 Alport syndrome is a hereditary nephropathy caused by mu

120 Alport syndrome is a human hereditary glomerulonephritis

121 Alport syndrome is a progressive, hereditary disorder of

122 Alport syndrome is an inherited disease characterized by

123 Alport syndrome is an inherited disorder characterized b

124 Alport syndrome is an inherited kidney disease, which ca

125 Alport syndrome is an inherited nephropathy associated w

126 Alport syndrome is caused by pathogenic variants in COL4

127 Autosomal recessive Alport syndrome is suspected in consanguineous families

128 Alport syndrome is the commonest inherited kidney diseas

129 in fibrotic kidney disease, but its role in Alport syndrome is unknown.

130 how that the phenotypic spectrum of X-linked Alport syndrome is wider than previously known.

131 Chronic kidney disease, including Alport Syndrome, is linked to collagen type IV mutations

132 including diabetic kidney disease (DKD) and Alport syndrome, is unknown.

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

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

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

136 ssociation with autophagic podocyte death in Alport syndrome mice and with apoptotic podocyte death i

137 nd Alport syndrome and increases lifespan in Alport syndrome mice.

138 omerular injury and extended the lifespan in Alport syndrome mice.

139 Here, we constructed a transgenic Alport syndrome mouse model by generating a mutation (Co

140 In an Alport syndrome mouse model, renal IL-11 is upregulated,

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

142 1 expression by molecular analyses and in an Alport syndrome mouse model.

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

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

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

146 en and 16% of women had a known diagnosis of Alport syndrome or thin basement membrane disease.

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

148 In Col4a3(-/-) mice, a model of Alport syndrome, PDGF-D mRNA and protein were significan

149 Overall, penetrance (having any Alport syndrome phenotypic feature) was the highest for

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

151 3(-/-) mice, a model for autosomal recessive Alport syndrome, progress to renal failure significantly

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

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

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

155 riants in the COL4A3-COL4A5 genes that cause Alport syndrome result in Gly substitutions.

156 Alport syndrome results from mutations in genes encoding

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

158 dney phenotypes found in human patients with Alport Syndrome through albuminuria and GFR measurements

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

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

161 alpha 5(IV), which is not made in autosomal Alport syndrome (two pathogenic variants in trans or bia

162 In Alport syndrome, variants in COL4A3, 4, or 5 genes, enco

163 The reported prevalence of Alport syndrome varies from one in 5000 to one in 53,000

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

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

166 en Variation Database in males with X-linked Alport syndrome were correlated with age at kidney failu

167 ffecting Gly (n = 304) in autosomal dominant Alport syndrome were correlated with the risk of haematu

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

169 h as steroid-resistant nephrotic syndrome or Alport syndrome were often the primary clinical diagnosi

170 rine podocytes isolated from mouse models of Alport Syndrome were profiled using Illumina.

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

172 a range of hereditary human diseases such as Alport syndrome, which is caused by defects in the genes

173 Variants in COL4A3, COL4A4, and COL4A5 cause Alport syndrome, which is characterized by abnormal asse

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

175 col4a4 depleted zebrafish larvae (a model of Alport syndrome) with captopril reduced proteinuria in t

176 ciated with the typical features of X-linked Alport syndrome, with a median age at kidney failure of

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

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

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

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

181 are responsible for 80% of cases of X-linked Alport Syndrome (XLAS).

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

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