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 is a human autosomal dominant developm

11 Alagille syndrome is an autosomal dominant disorder caus

12 Alagille syndrome is an autosomal dominant disorder char

13 Alagille syndrome is an autosomal dominant disorder char

14 Alagille syndrome is caused by mutations in the Jagged 1

15 Alagille syndrome, a chronic hepatobiliary disease, is c

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

17 Alagille's syndrome is inherited in an autosomal dominan

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

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

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

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

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

23 rtical infarcts and leukoencephalopathy) and Alagille syndrome.

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

25 surgery type other than complete repair and Alagille syndrome.

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

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

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

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

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

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

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

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

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

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

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

37 -causing gene for the developmental disorder Alagille syndrome.

38 ptors, cause the autosomal dominant disorder Alagille syndrome.

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

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

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

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

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

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

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

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

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

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

49 e variable phenotypic expression observed in Alagille syndrome patients.

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

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

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

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

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

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

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

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

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

59 Moreover, Alagille patients with a NOTCH2 haploinsufficiency displ

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

61 t exhibit other phenotypes characteristic of Alagille syndrome patients.

62 evelopmental abnormalities characteristic of Alagille syndrome.

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

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

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

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

67 abnormalities or characteristic features of Alagille's syndrome.

68 d not recapitulate the midface hypoplasia of Alagille syndrome.

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

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

71 ulated the midfacial hypoplasia phenotype of Alagille syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

88 Notch2 haploinsufficiency is associated with Alagille syndrome.

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

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

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

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

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

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

95 Patients with Alagille syndrome have midface hypoplasia giving them a

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

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