ライフサイエンスコーパス: Alagille

1 Alagille syndrome (AGS) causes intractable pruritus and

2 Alagille syndrome (AGS) is a dominantly inherited disord

3 Alagille syndrome (AGS) is a dominantly inherited disord

4 Alagille syndrome (AGS) is a dominantly inherited multis

5 Alagille syndrome (AGS) is a heterogeneous developmental

6 Alagille syndrome (AGS) is an autosomal dominant disorde

7 Alagille syndrome (AGS) is an autosomal-dominant disorde

8 Alagille syndrome (AGS) is caused by heterozygous mutati

9 Alagille syndrome (AGS) is caused by mutations in the ge

10 Alagille syndrome (ALGS) is a multisystem developmental

11 Alagille syndrome (ALGS) is characterized by chronic cho

12 Alagille syndrome is a human autosomal dominant developm

13 Alagille syndrome is a rare genetic disease that often p

14 Alagille syndrome is an autosomal dominant disorder caus

15 Alagille syndrome is an autosomal dominant disorder char

16 Alagille syndrome is an autosomal dominant disorder char

17 Alagille syndrome is caused by mutations in the Jagged 1

18 Alagille syndrome patients present with loss of function

19 Alagille syndrome, a chronic hepatobiliary disease, is c

20 Alagille's syndrome is a common cause of liver disease i

21 Alagille's syndrome is inherited in an autosomal dominan

22 BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by

23 n-Williams familial arteriopathy (n=12), and Alagille syndrome (n=3).

24 1 antitrypsin deficiency (A1AT; n = 78), and Alagille syndrome (ALGS; n = 65) and correlated with liv

25 For Angelman and Alagille syndromes, single genes have been identified, w

26 chronic intrahepatic cholestasis (CIC), and Alagille syndrome (ALGS).

27 noids from alpha1-antitrypsin deficiency and Alagille syndrome patients mirror the in vivo pathology.

28 cits associated with Alzheimer's disease and Alagille and Cadasil syndromes.

29 rtical infarcts and leukoencephalopathy) and Alagille syndrome.

30 Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome (AGS).

31 surgery type other than complete repair and Alagille syndrome.

32 The syndromes discussed include Angelman, Alagille, Williams, Langer-Giedeon, Prader-Willi, Smith-

33 ukemia and two hereditary syndromes known as Alagille and CADASIL.

34 omal-dominant, multisystem disorder known as Alagille syndrome, which is characterized by a congenita

35 ated with defective Notch signaling, such as Alagille syndrome, maybe mechanistically related to cili

36 viduals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for th

37 G1) result in a multi-system disorder called Alagille syndrome (AGS).

38 ltisystem autosomal dominant disorder called Alagille syndrome, which includes tetralogy of Fallot am

39 s of function of JAGGED1 in humans can cause Alagille syndrome, which has craniosynostosis as a featu

40 ing pathway and mutations in this gene cause Alagille syndrome (AGS).

41 JAGGED1 mutations cause Alagille syndrome, comprising a constellation of clinica

42 ligand in the Notch signaling pathway, cause Alagille syndrome (AGS).

43 nts underlie three inherited human diseases: Alagille syndrome, spondylocostal dysostosis, and cerebr

44 -causing gene for the developmental disorder Alagille syndrome.

45 ptors, cause the autosomal dominant disorder Alagille syndrome.

46 ith the JAG1/NOTCH2-related genetic disorder Alagille syndrome can thus experience hearing loss.

47 a primary cause of the multi-system disorder Alagille syndrome.

48 enetic disorders, including cystic fibrosis, Alagille syndrome, and Duchenne muscular dystrophy.

49 ormalities of the JAG1 gene as the basis for Alagille syndrome and some cases of isolated tetralogy o

50 for clinical variant classification both for Alagille syndrome and globally across other disease gene

51 ding evidence that it is the causal gene for Alagille syndrome.

52 erozygous Jagged1 knockout mice, a model for Alagille Syndrome (AGS), also display stapes and incus d

53 nciple, we applied DUCT to a mouse model for Alagille syndrome (Jag1(Ndr/Ndr) mice), characterized by

54 bl6 background to generate a mouse model for Alagille syndrome (Jag1(Ndr/Ndr) mice).

55 its in the Notch pathway are responsible for Alagille and Cadasil syndromes, which are associated wit

56 distinct coding mutations in JAG1 from four Alagille syndrome families, providing evidence that it i

57 lly detectable deletions including JAG1 have Alagille syndrome, supporting the hypothesis that haploi

58 e characterized by reduced numbers of IHBDs, Alagille syndrome, is associated with mutations in Notch

59 reatment paradigm for chronic cholestasis in Alagille syndrome.

60 maralixibat for children with cholestasis in Alagille syndrome.

61 Jagged1-deficient mice and, by corollary, in Alagille syndrome patients.

62 spectrum of cardiac phenotypes displayed in Alagille Syndrome and it demonstrates a crucial role for

63 e variable phenotypic expression observed in Alagille syndrome patients.

64 d in humans, since Notch2 mutations occur in Alagille syndrome (ALGS) 2 patients, which includes rena

65 a Notch ligand, have been shown to result in Alagille syndrome (AGS), however, the causal link betwee

66 The majority of JAG1 mutations seen in Alagille syndrome patients are null alleles, suggesting

67 adult mice that are reminiscent of those in Alagille syndrome.

68 al side effect profile in clinical trials in Alagille Ssyndrome and progressive familial intrahepatic

69 e a variety of congenital diseases including Alagille Syndrome and polycystic liver disease.

70 ously described clinical syndrome, including Alagille syndrome (AGS), caused by haploinsufficiency fo

71 ses affecting the skeletal tissue, including Alagille syndrome, spondylocostal dysostosis, and possib

72 NA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (progressive familial intrahe

73 phic mutations in the gene encoding Jagged1 (Alagille syndrome) failed to mount appropriate T(H)1 res

74 Moreover, Alagille patients with a NOTCH2 haploinsufficiency displ

75 Up to 40% of Alagille syndrome patients also display exocrine pancrea

76 t exhibit other phenotypes characteristic of Alagille syndrome patients.

77 evelopmental abnormalities characteristic of Alagille syndrome.

78 In two of the families, the diagnosis of Alagille syndrome was further established in one infant

79 ritical impact on the molecular diagnosis of Alagille syndrome.

80 malies are among the most common features of Alagille syndrome (AGS).

81 model can be used to study other features of Alagille syndrome and organ development.

82 Jag1(Ndr/Ndr) mice had many features of Alagille syndrome, including eye, heart, and liver defec

83 e use CLCs to model in vitro key features of Alagille syndrome, polycystic liver disease and cystic f

84 abnormalities or characteristic features of Alagille's syndrome.

85 d not recapitulate the midface hypoplasia of Alagille syndrome.

86 create a more representative mouse model of Alagille syndrome and provides a possible explanation of

87 We aimed to develop a mouse model of Alagille syndrome to elucidate these mechanisms.

88 using Jag1Ndr/Ndr mice, which are a model of Alagille syndrome.

89 ulated the midfacial hypoplasia phenotype of Alagille syndrome.

90 Given the variable presentation of Alagille's syndrome, we believe that it is necessary pre

91 These include the DiGeorge, Holt-Oram, Alagille, familial primary pulmonary hypertension, and N

92 xtrahepatic biliary atresia (four patients), Alagille's syndrome (one), drug-induced acute liver fail

93 upts bile duct development and recapitulates Alagille syndrome phenotypes in heart, eye, and craniofa

94 On multivariable Cox regression, Alagille syndrome (HR: 2.8; 95% CI: 1.4-5.7; P = 0.004),

95 inst Notch-based diseases (e.g. Alzheimer's, Alagille Syndrome, various cancers and other disease sta

96 Hepatocyte organoids have been used to study Alagille syndrome, fatty liver disease, Wilson disease,

97 cular structural defects of Marfan syndrome, Alagille syndrome, neurofibromatosis, and Cockayne's syn

98 in conotruncal defects, Holt-Oram syndrome, Alagille syndrome, and total anomalous pulmonary venous

99 The Alagille Syndrome (AGS) is a heritable disorder affectin

100 is gene is one of the mechanisms causing the Alagille syndrome phenotype.

101 rom a CpG island in a YAC clone covering the Alagille syndrome critical region at chromosome 20p12 (t

102 as been shown to be haploinsufficient in the Alagille syndrome.

103 S162 and D20S894 , an area that includes the Alagille syndrome critical region.

104 portant Notch transmembrane receptor, to the Alagille syndrome critical region within 20p12.

105 se physical location of this gene within the Alagille syndrome critical region.

106 al disease model with a similar phenotype to Alagille syndrome.

107 ically diagnosed children, including 20 with Alagille syndrome (ALGS), 16 with familial intrahepatic

108 ic variant in JAG1, the gene associated with Alagille syndrome, was identified in three large familie

109 Notch2 haploinsufficiency is associated with Alagille syndrome.

110 city is characteristic of children born with Alagille Syndrome (ALGS), a disease associated with JAGG

111 The patient was a 2.5-year-old child with Alagille syndrome suffering from tetralogy of Fallot wit

112 In children with Alagille syndrome, maralixibat is, to our knowledge, the

113 the living-related donors for children with Alagille's syndrome had no liver function abnormalities

114 aracteristic of Cm /+ mice or of humans with Alagille syndrome.

115 ies, one baby, who was born to a mother with Alagille syndrome, died from congenital birth defects.

116 iliary cirrhosis and biliary atresia or with Alagille syndrome, two major pediatric cholestatic condi

117 In patients with Alagille syndrome (ALGS), bile duct paucity often leads

118 For example, in patients with Alagille syndrome (ALGS), which is a genetic disease pri

119 liver transplantation (LT) in patients with Alagille syndrome (ALGS).

120 Patients with Alagille syndrome have midface hypoplasia giving them a

121 of liver tissues from mice and patients with Alagille syndrome identified dysregulated genes encoding

122 dr/Ndr) livers and livers from patients with Alagille syndrome, cross-referenced to the Human Protein

123 extension in children (aged 1-18 years) with Alagille syndrome (NCT02160782).