ライフサイエンスコーパス: Alagille syndrome

1 Notch2 haploinsufficiency is associated with Alagille syndrome.

2 ulated the midfacial hypoplasia phenotype of Alagille syndrome.

3 d not recapitulate the midface hypoplasia of Alagille syndrome.

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

5 surgery type other than complete repair and Alagille syndrome.

6 rtical infarcts and leukoencephalopathy) and Alagille syndrome.

7 -causing gene for the developmental disorder Alagille syndrome.

8 evelopmental abnormalities characteristic of Alagille syndrome.

9 ptors, cause the autosomal dominant disorder Alagille syndrome.

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

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

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

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

14 Alagille syndrome, a chronic hepatobiliary disease, is c

15 Alagille syndrome (AGS) causes intractable pruritus and

16 Alagille syndrome (AGS) is a dominantly inherited disord

17 Alagille syndrome (AGS) is a dominantly inherited disord

18 Alagille syndrome (AGS) is a dominantly inherited multis

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

20 Alagille syndrome (AGS) is a heterogeneous developmental

21 Alagille syndrome (AGS) is an autosomal dominant disorde

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

23 Alagille syndrome (AGS) is caused by heterozygous mutati

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

53 Patients with Alagille syndrome have midface hypoplasia giving them a

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

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

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

57 Alagille syndrome is a human autosomal dominant developm

58 Alagille syndrome is an autosomal dominant disorder caus

59 Alagille syndrome is an autosomal dominant disorder char

60 Alagille syndrome is an autosomal dominant disorder char

61 Alagille syndrome is caused by mutations in the Jagged 1

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

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

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

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

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

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

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

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

70 e variable phenotypic expression observed in Alagille syndrome patients.

71 t exhibit other phenotypes characteristic of Alagille syndrome patients.

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

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

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

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

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

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

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

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

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

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

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

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

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

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