alagille syndrome

Summary

Summary: An autosomal dominant MUTATION involving CHROMOSOME 20. It is characterized by the almost normal LIVER that has few or no intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). Other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS.

Top Publications

  1. pmc NOTCH2 mutations in Alagille syndrome
    Binita Maya Kamath
    Division of Gastroenterology and Nutrition, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Canada
    J Med Genet 49:138-44. 2012
  2. ncbi Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
    L Li
    Stowers Institute for Medical Research, Department of Molecular Biotechnology, University of Washington, Seattle 98195 USA
    Nat Genet 16:243-51. 1997
  3. ncbi Mutations in the human Jagged1 gene are responsible for Alagille syndrome
    T Oda
    Laboratory of Gene Transfer, National Human Genome Research Institutes of Health, Bethesda, Maryland 20892 4442, USA
    Nat Genet 16:235-42. 1997
  4. ncbi A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency
    Brent McCright
    The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
    Development 129:1075-82. 2002
  5. pmc Alagille syndrome: pathogenesis, diagnosis and management
    Peter D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
    Eur J Hum Genet 20:251-7. 2012
  6. pmc NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
    Ryan McDaniell
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, PA 19104, USA
    Am J Hum Genet 79:169-73. 2006
  7. ncbi Facial features in Alagille syndrome: specific or cholestasis facies?
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:163-70. 2002
  8. ncbi Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital
    P Subramaniam
    Paediatric Liver Centre, King s College London School of Medicine at King s College Hospital, UK
    J Pediatr Gastroenterol Nutr 52:84-9. 2011
  9. pmc Analysis of liver repair mechanisms in Alagille syndrome and biliary atresia reveals a role for notch signaling
    Luca Fabris
    CeLiveR, Gastroenterology and Liver Transplant Unit, Ospedali Riuniti di Bergamo, Bergamo, Italy
    Am J Pathol 171:641-53. 2007
  10. ncbi Molecular basis of intrahepatic cholestasis
    Victoria E H Carlton
    Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, San Francisco, California 94110, USA
    Ann Med 36:606-17. 2004

Detail Information

Publications190 found, 100 shown here

  1. pmc NOTCH2 mutations in Alagille syndrome
    Binita Maya Kamath
    Division of Gastroenterology and Nutrition, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Canada
    J Med Genet 49:138-44. 2012
    b>Alagille syndrome (ALGS) is a dominant, multisystem disorder caused by mutations in the Jagged1 (JAG1) ligand in 94% of patients, and in the NOTCH2 receptor in <1%. There are only two NOTCH2 families reported to date...
  2. ncbi Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
    L Li
    Stowers Institute for Medical Research, Department of Molecular Biotechnology, University of Washington, Seattle 98195 USA
    Nat Genet 16:243-51. 1997
    b>Alagille syndrome is an autosomal dominant disorder characterized by abnormal development of liver, heart, skeleton, eye, face and, less frequently, kidney...
  3. ncbi Mutations in the human Jagged1 gene are responsible for Alagille syndrome
    T Oda
    Laboratory of Gene Transfer, National Human Genome Research Institutes of Health, Bethesda, Maryland 20892 4442, USA
    Nat Genet 16:235-42. 1997
    b>Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by intrahepatic cholestasis and abnormalities of heart, eye and vertebrae, as well as a characteristic facial appearance...
  4. ncbi A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency
    Brent McCright
    The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
    Development 129:1075-82. 2002
    b>Alagille syndrome is a human autosomal dominant developmental disorder characterized by liver, heart, eye, skeletal, craniofacial and kidney abnormalities...
  5. pmc Alagille syndrome: pathogenesis, diagnosis and management
    Peter D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
    Eur J Hum Genet 20:251-7. 2012
    b>Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of ..
  6. pmc NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
    Ryan McDaniell
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, PA 19104, USA
    Am J Hum Genet 79:169-73. 2006
    b>Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 (JAG1), which are found in 94% of patients...
  7. ncbi Facial features in Alagille syndrome: specific or cholestasis facies?
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:163-70. 2002
    b>Alagille syndrome is a complex multisystem disorder characterized by bile duct paucity, cholestasis, cardiac defects, vertebral anomalies, ophthalmologic changes, and facial dysmorphism...
  8. ncbi Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital
    P Subramaniam
    Paediatric Liver Centre, King s College London School of Medicine at King s College Hospital, UK
    J Pediatr Gastroenterol Nutr 52:84-9. 2011
    The aim of the study was to study the clinical and histological features of Alagille syndrome (AGS) at presentation comparing the value of the various modalities before the implementation of genetic diagnosis.
  9. pmc Analysis of liver repair mechanisms in Alagille syndrome and biliary atresia reveals a role for notch signaling
    Luca Fabris
    CeLiveR, Gastroenterology and Liver Transplant Unit, Ospedali Riuniti di Bergamo, Bergamo, Italy
    Am J Pathol 171:641-53. 2007
    Patients with Alagille syndrome (AGS), a genetic disorder of Notch signaling, suffer from severe ductopenia and cholestasis, but progression to biliary cirrhosis is rare...
  10. ncbi Molecular basis of intrahepatic cholestasis
    Victoria E H Carlton
    Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, San Francisco, California 94110, USA
    Ann Med 36:606-17. 2004
    ..b>Alagille syndrome patients carry mutations in JAG1, and mutations in VPS33B have been identified in patients with ..
  11. ncbi Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
    R P Colliton
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Hum Mutat 17:151-2. 2001
    b>Alagille syndrome (AGS) is an autosomal dominant disorder caused by mutations in Jagged1 (JAG1), a ligand in the evolutionarily conserved Notch signaling pathway...
  12. ncbi DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients
    Mandy L Heritage
    Joint Clinical Sciences Program, The Queensland Institute of Medical Research and The University of Queensland, Brisbane, Queensland, Australia
    Hum Mutat 20:481. 2002
    b>Alagille syndrome (AGS) is an autosomal dominant disorder characterized by abnormal development of the liver, heart, skeleton, eye, and face. Mutations in the Jagged1 gene have been found to result in the AGS phenotype...
  13. ncbi Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients
    Dorota Jurkiewicz
    Children s Memorial Health Institute, Department of Medical Genetics, Warsaw, Poland
    Hum Mutat 25:321. 2005
    b>Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities of the liver, heart, eyes, vertebrae, and face...
  14. ncbi Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate
    D M Warthen
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, 19104, USA
    Hum Mutat 27:436-43. 2006
    b>Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria...
  15. ncbi Alagille syndrome and liver transplantation
    Binita M Kamath
    Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    J Pediatr Gastroenterol Nutr 50:11-5. 2010
    b>Alagille syndrome is a multisystem disorder in which progressive liver disease with persistent cholestasis and dramatic pruritus often warrant consideration for liver transplantation...
  16. ncbi Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype
    Matthew J Ryan
    Division of Gastroenterology, Hepatology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Hepatology 48:1989-97. 2008
    b>Alagille syndrome (AGS) is a heterogeneous developmental disorder associated with bile duct paucity and various organ anomalies...
  17. ncbi Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome
    Doff B McElhinney
    Division of Cardiology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104 4318, USA
    Circulation 106:2567-74. 2002
    Cardiovascular anomalies are among the most common features of Alagille syndrome (AGS). Mutations of JAG1 are found in most individuals with AGS...
  18. ncbi Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene
    P Stankiewicz
    Institute of Human Genetics and Medical Biology, University Halle Wittenberg, Halle S, Germany
    Am J Med Genet 103:166-71. 2001
    ..JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS)...
  19. pmc Jagged1 in the portal vein mesenchyme regulates intrahepatic bile duct development: insights into Alagille syndrome
    Jennifer J Hofmann
    Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA 90095, USA
    Development 137:4061-72. 2010
    Mutations in the human Notch ligand jagged 1 (JAG1) result in a multi-system disorder called Alagille syndrome (AGS)...
  20. ncbi Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome
    Albrecht Röpke
    Institut fur Humangenetik und Medizinische Biologie, Martin Luther Universitat Halle Wittenberg, Halle, Germany
    Hum Mutat 21:100. 2003
    b>Alagille syndrome (AGS) is an autosomal dominant disorder characterized by five major symptoms: cholestasis, vertebral deformity, heart malformations, ocular defects and peculiar facial appearance...
  21. pmc Pathologic lower extremity fractures in children with Alagille syndrome
    Christina B Bales
    Department of Pediatrics, The Department of Biostatistics and Epidemiology at the University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    J Pediatr Gastroenterol Nutr 51:66-70. 2010
    In this retrospective study, we aimed to determine the incidence and distribution of fractures in patients with Alagille syndrome, 1 of the leading inherited causes of pediatric cholestatic liver disease.
  22. ncbi Parental mosaicism of JAG1 mutations in families with Alagille syndrome
    J Giannakudis
    Institut fur Humangenetik und Medizinische Biologie, University Halle Wittenberg, Halle, Germany
    Eur J Hum Genet 9:209-16. 2001
    The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression...
  23. ncbi JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
    K Guegan
    Department of Molecular Genetics Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, UK
    Clin Genet 82:33-40. 2012
    b>Alagille syndrome is a multisystem disorder characterized by highly variable expressivity, most frequently caused by heterozygous JAG1 gene mutations...
  24. ncbi The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome
    K M Loomes
    Division of Human Genetics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
    Hum Mol Genet 8:2443-9. 1999
    ..b>Alagille syndrome (AGS) is an autosomal dominant disorder characterized by developmental abnormalities of the heart, liver, ..
  25. pmc Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features
    Henry C Lin
    Division of Gastroenterology, Hepatology, and Nutrition, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 158:1005-13. 2012
    b>Alagille syndrome (ALGS, OMIM #118450) is an autosomal dominant disorder that affects multiple organ systems including the liver, heart, eyes, vertebrae, and face...
  26. ncbi Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
    M L Heritage
    Joint Clinical Sciences Program, Queensland Institute of Medical Research and University of Queensland, Brisbane, Queensland, Australia
    Hum Mutat 16:408-16. 2000
    b>Alagille syndrome (AGS) is an autosomal dominant disorder characterized by abnormal development of the liver, heart, skeleton, eye, and face...
  27. ncbi Jagged-1 mutation analysis in Italian Alagille syndrome patients
    G Pilia
    Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, Cagliari, Italy
    Hum Mutat 14:394-400. 1999
    b>Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region...
  28. ncbi The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome
    Z R Yuan
    National Children s Medical Research Center, Tokyo, Japan
    Clin Genet 59:330-7. 2001
    b>Alagille syndrome (AGS) is a congenital multi-system anomaly mainly characterized by paucity of intrahepatic bile ducts caused by haploinsufficiency of the Jagged 1 gene (JAG1)...
  29. ncbi Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome
    C Crosnier
    INSERM Unité 347 affiliée au CNRS, F 94276 Le Kremlin Bicetre, France
    Hum Mutat 17:72-3. 2001
    Mutations in the human JAGGED1 gene cause Alagille syndrome, an autosomal dominant developmental disorder. The gene encodes a transmembrane protein which is a ligand of Notch receptors...
  30. ncbi Renal anomalies in Alagille syndrome: a disease-defining feature
    Binita M Kamath
    Division of Gastroenterology, Hepatology and Nutrition at The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 158:85-9. 2012
    b>Alagille syndrome (ALGS) is an autosomal dominant condition, primarily caused by mutations in JAGGED1...
  31. ncbi Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome
    Honglian Wang
    Children s Hospital of Fudan University, Shanghai, China Institute of Biomedical Sciences, Fudan University, Shanghai, China
    Gene 499:191-3. 2012
    b>Alagille syndrome (AGS) is an autosomal dominant disorder characterized by bile duct paucity...
  32. ncbi Re: Article by Kamath et al.-"Facial features in Alagille Syndrome"
    Ronald J Sokol
    Am J Med Genet A 124:220-1; reply 222-3. 2004
  33. ncbi Case report: Alagille syndrome
    M G Guadagni
    Department of Dentistry and Stomatology University of Bologna, Alma Mater Studiorum Bologna, Italy
    Minerva Stomatol 54:593-600. 2005
    The clinical case of a boy aged 6 years suffering from Alagille syndrome is described...
  34. ncbi Alagille syndrome: an overview
    Pietro Vajro
    Medical School of Salerno, Salerno, Italy
    Clin Res Hepatol Gastroenterol 36:275-7. 2012
    b>Alagille syndrome is an embryofoetopathy, due to mutations in the gene JAG1. It is autosomic dominant with variable expressivity, or sporadic. Neonatal cholestasis is a main feature, due to the paucity of intrahepatic bile ducts...
  35. ncbi Bleeding tendency in children with Alagille syndrome
    Panayotis Lykavieris
    Service d hépatologie pédiatrique, Hopital de Bicetre, Le Kremlin Bicetre Cedex, France
    Pediatrics 111:167-70. 2003
    ..intracranial bleeding is now a widely recognized complication and cause of mortality in patients with Alagille syndrome. The pathogenesis of intracranial bleeding in these patients remains unclear...
  36. ncbi Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12
    T Oda
    Laboratory of Gene Transfer, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genomics 43:376-9. 1997
    ..have isolated the human homolog of the rat Jagged1 gene, JAG1, from a CpG island in a YAC clone covering the Alagille syndrome critical region at chromosome 20p12 (tel-SNAP-D20S186-cen)...
  37. ncbi Craniosynostosis in Alagille syndrome
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:176-80. 2002
    b>Alagille syndrome is a multisystem developmental disorder with primary involvement of the liver, heart, skeleton, eyes and facial structures, and demonstrates highly variable expressivity with respect to all of the involved systems...
  38. pmc Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients
    Ryan Humphreys
    Department of Surgery, Vanderbilt Medical Center, Nashville, TN 37232, USA
    Hum Mol Genet 21:1374-83. 2012
    JAGGED1 mutations cause Alagille syndrome, comprising a constellation of clinical findings, including biliary, cardiac and craniofacial anomalies...
  39. ncbi Renal abnormalities in a family with Alagille syndrome
    H Yucel
    Department of Internal Medicine, Catharina Hospital, Eindhoven, The Netherlands
    Neth J Med 68:38-9. 2010
    b>Alagille syndrome is largely unknown to the general internist because the diagnosis is usually made by a paediatrician...
  40. ncbi Medical management of Alagille syndrome
    Binita M Kamath
    Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada
    J Pediatr Gastroenterol Nutr 50:580-6. 2010
    b>Alagille syndrome is a highly variable, autosomal dominant disorder that affects the liver, heart, eyes, face, skeleton, kidneys, and vascular system...
  41. pmc Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome
    Jennifer J Hofmann
    Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA
    Development 139:4449-60. 2012
    ..the gene encoding the human Notch ligand jagged 1 result in a multisystem autosomal dominant disorder called Alagille syndrome, which includes tetralogy of Fallot among its more severe cardiac pathologies...
  42. ncbi A case of Takayasu disease with findings of incomplete Alagille syndrome
    Salih Kavukcu
    Department of Pediatrics, Medical Faculty, Dokuz Eylul University, Mithatpaşa Cad No 665 4, Kucukyali, 35280, Izmir, Turkey
    Rheumatol Int 25:555-7. 2005
    A 16-year-old girl being followed up for Takayasu arteritis for the last 3 years was also found to have Alagille syndrome upon findings of atypical facies, posterior embryotoxon, high-pitched voice, osteopenia and hypogonadism...
  43. ncbi Jagged1 mutations in alagille syndrome
    N B Spinner
    Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Hum Mutat 17:18-33. 2001
    We have summarized data on 233 Alagille syndrome patients reported with mutations in Jagged1 (JAG1). This data has been published by seven different laboratories in Europe, the United States, Australia, and Japan...
  44. ncbi Alagille syndrome: chipping away at the tip of the iceberg
    Ian D Krantz
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:160-2. 2002
  45. ncbi Lack of hepatocellular CD10 along bile canaliculi is physiologic in early childhood and persistent in Alagille syndrome
    Jane A Byrne
    Division of Gene and Cell Based Therapy, King s College London School of Medicine, London, UK
    Lab Invest 87:1138-48. 2007
    ..activity (NEA) has been recommended as a marker of cholestasis in adults but not in children with Alagille syndrome (AGS). We investigated ontogenic and disease-related differences in the expression of CD10...
  46. ncbi Peripheral bile duct paucity and cholestasis in the liver of a patient with Alagille syndrome: further evidence supporting a lack of postnatal bile duct branching and elongation
    Louis Libbrecht
    Department of Pathology, University Hospitals of Leuven, Minderbroedersstraat 12, 3000 Leuven, Belgium
    Am J Surg Pathol 29:820-6. 2005
    b>Alagille syndrome (AGS) is a developmental, multiorgan disease caused by mutations of the Jagged1 gene...
  47. ncbi Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome
    Andreas Fischer
    Theodor Boveri Institute Biocenter, Physiological Chemistry I, University of Wuerzburg, D 97074, Am Hubland, Wuerzburg, Germany
    Mamm Genome 15:711-6. 2004
    ..is one of the few Notch target genes, it is also conceivable that HEY2 mutations may account for cases of Alagille syndrome (AGS: variable combinations of heart, skeleton, eye, and facial malformations and cholestasis), in which the ..
  48. ncbi SR-BI- and ABCA1-mediated cholesterol efflux to serum from patients with Alagille syndrome
    Patricia G Yancey
    Division of Gastroenterology and Nutrition, Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    J Lipid Res 45:1724-32. 2004
    b>Alagille syndrome is associated with bile duct paucity resulting in liver disease. Patients can be divided into mildly and severely icteric groups, with both groups having altered lipoproteins...
  49. ncbi Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Circulation 109:1354-8. 2004
    b>Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations in Jagged1. Intracranial bleeding is a recognized complication and cause of mortality in AGS...
  50. ncbi Inhibition of Jagged-mediated Notch signaling disrupts zebrafish biliary development and generates multi-organ defects compatible with an Alagille syndrome phenocopy
    Kristin Lorent
    Department of Medicine, University of Pennsylvania School of Medicine, 421 Curie Boulevard, Philadelphia, PA 19104 6058, USA
    Development 131:5753-66. 2004
    The Alagille Syndrome (AGS) is a heritable disorder affecting the liver and other organs. Causative dominant mutations in human Jagged 1 have been identified in most AGS patients...
  51. pmc Outcome of liver disease in children with Alagille syndrome: a study of 163 patients
    P Lykavieris
    , , , France
    Gut 49:431-5. 2001
    ..AIMS: Various opinions have been expressed as to the long term prognosis of liver disease associated with Alagille syndrome (AGS)...
  52. pmc JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype
    E A Jones
    Institute of Human Genetics, School of Biochemistry and Genetics, Ground Floor, Ridley Building, University of Newcastle upon Tyne, Claremont Place, Newcastle upon Tyne NE1 7RU, UK
    J Med Genet 37:658-62. 2000
    b>Alagille syndrome (AGS, MIM 118450) is an autosomal dominant disorder with a variable phenotype characterised by hepatic, eye, cardiac, and skeletal malformations and a characteristic facial appearance...
  53. ncbi Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome
    Karen Vrijens
    Department of Medical Genetics, University of Antwerp, B 2610 Antwerp, Belgium
    Neurobiol Dis 24:28-40. 2006
    ..Mutations in the human homologue of Jag1 cause Alagille syndrome (AGS), an autosomal dominant disorder associated with liver, heart, eye and skeletal abnormalities, ..
  54. ncbi Expression of mutant JAGGED1 alleles in patients with Alagille syndrome
    Julie Boyer
    INSERM E00 20, Batiment Gregory Pincus, 80 rue du General Leclerc, 94276, Le Kremlin Bicetre Cedex, France
    Hum Genet 116:445-53. 2005
    ..mutations in JAGGED1 (JAG1), encoding a ligand for Notch receptors, have been identified in patients with Alagille syndrome (AGS)...
  55. ncbi Ileal exclusion for refractory symptomatic cholestasis in Alagille syndrome
    Biren P Modi
    Department of Surgery, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    J Pediatr Surg 42:800-5. 2007
    b>Alagille syndrome (AGS) can result in pruritic self-mutilation and disabling or disfiguring xanthomas...
  56. ncbi Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome
    C Crosnier
    INSERM Unité 347 affiliée au Centre National de la Recherche Scientifique, Departement de Pediatrie, Hopital de Bicetre, Le Kremlin Bicetre, France
    Gastroenterology 116:1141-8. 1999
    Mutations in the JAGGED1 gene are responsible for the Alagille syndrome, an autosomal dominant disorder characterized by neonatal jaundice, intrahepatic cholestasis, and developmental disorders affecting the liver, heart, vertebrae, eyes,..
  57. pmc Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families
    I D Krantz
    Division of Human Genetics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Am J Hum Genet 62:1361-9. 1998
    b>Alagille syndrome (AGS) is a dominantly inherited disorder characterized by liver disease in combination with heart, skeletal, ocular, facial, renal, and pancreatic abnormalities...
  58. ncbi Health status of patients with Alagille syndrome
    Scott A Elisofon
    Division of Pediatric Gastroenterology and Nutrition, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    J Pediatr Gastroenterol Nutr 51:759-65. 2010
    The aim of the study was to assess health-related quality of life (HRQOL) in children with Alagille syndrome (AGS) in comparison with a normative population and other chronic diseases, and also to examine the effect of AGS-specific ..
  59. ncbi [Progressive geographic chorioretinopathy associated with Alagille syndrome]
    A Bidaguren
    Servicio de Oftalmologia, Hospital Donostia, San Sebastián Guipúzcoa, Espana
    Arch Soc Esp Oftalmol 82:513-5. 2007
    We report the case of a patient with the genetic diagnosis of Alagille Syndrome, who has attended our hospital since 1992, and has shown a progressive bilateral chorioretinopathy with severe deterioration in visual acuity.
  60. ncbi Liver transplantation in children with Alagille syndrome: indications and outcome
    Cornelia Englert
    Department of Pediatrics, University Medical Center Hamburg Eppendorf, Germany
    Pediatr Transplant 10:154-8. 2006
    ..Future studies must identify underlying mechanisms of hypercholesterolemia and vascular malformation...
  61. ncbi Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation
    Sigrid Harendza
    Department of Nephrology, University Hospital Hamburg Eppendorf, Hamburg, Germany
    J Nephrol 18:312-7. 2005
    Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation: Alagille syndrome is an autosomal dominant disorder involving liver, heart, eyes, face, skeleton, and other organs...
  62. ncbi Evaluation of risk for atherosclerosis in Alagille syndrome and progressive familial intrahepatic cholestasis: two congenital cholestatic diseases with different lipoprotein metabolisms
    Hironori Nagasaka
    Division of Metabolism, Chiba Children s Hospital, Japan
    J Pediatr 146:329-35. 2005
    To evaluate the risk for atherosclerosis in Alagille syndrome (AGS) and progressive familial intrahepatic cholestasis (PFIC) on the basis of lipoprotein metabolism and by ultrasonography.
  63. ncbi Progression of a posterior communicating artery infundibulum into an aneurysm in a patient with Alagille syndrome. Case report
    John A Cowan
    Department of Neurosurgery, University of Michigan Health System, Ann Arbor, Michigan 48109 0338, USA
    J Neurosurg 101:694-6. 2004
    ..in which a posterior communicating artery (PCoA) infundibulum progressed into an aneurysm in a patient with Alagille syndrome (arteriohepatic dysplasia)...
  64. ncbi Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome
    J D Morrissette
    Division of Human Genetics and Molecular Biology, Children s Hospital of Philadelphia, 1006 Abramson Research Center, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
    Hum Mol Genet 10:405-13. 2001
    Jagged1 (JAG1) is a cell surface ligand in the Notch signaling pathway and mutations in this gene cause Alagille syndrome (AGS)...
  65. ncbi Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome
    Annick Raas-Rothschild
    Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel
    Am J Med Genet 112:75-8. 2002
    Congenital cardiac defects such as peripheral pulmonary stenosis are well described in Alagille syndrome (AGS), which is transmitted in an autosomal dominant inheritance...
  66. ncbi Deficits in size-adjusted bone mass in children with Alagille syndrome
    Irene E Olsen
    Center for Epidemiology and Biostatistics and Division of Neonatology, Cincinnati Children s Hospital Medical Cente, The University of Cincinnati College of Medicine, Cincinnati, OH, USA
    J Pediatr Gastroenterol Nutr 40:76-82. 2005
    To describe bone status in children with Alagille syndrome (AGS) and healthy control children adjusted for age, gender and height (HT), and to identify dietary intake and AGS-related factors associated with bone status.
  67. ncbi Partial external biliary diversion for intractable pruritus and xanthomas in Alagille syndrome
    Karan M Emerick
    Department of Pediatrics, Children s Memorial Hospital, Northwestern University Medical School, Chicago, IL 60614, USA
    Hepatology 35:1501-6. 2002
    b>Alagille syndrome (AGS) causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol...
  68. ncbi Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling
    Julie Boyer-Di Ponio
    INSERM U804, F 94276 Le Kremlin Bicetre, France
    Hum Mol Genet 16:2683-92. 2007
    Heterozygous mutations in JAGGED1, encoding a single-pass transmembrane ligand for the Notch receptors, cause Alagille syndrome (AGS), a polymalformative disorder affecting the liver, heart, eyes and skeleton and characterized by a ..
  69. ncbi Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:171-5. 2002
    b>Alagille syndrome (AGS; OMIM 118450) is a complex dominantly inherited multisystem disorder involving the liver, heart, eyes, facies, skeleton, and other systems...
  70. ncbi Alagille syndrome and the Jagged1 gene
    D A Piccoli
    Division of Gastroenterology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Semin Liver Dis 21:525-34. 2001
    Since the first descriptions of Alagille syndrome (syndromic bile duct paucity) 30 years ago, our appreciation of the clinical variability and complexity of this disorder has grown...
  71. doi Notch signaling in bile duct development: new insights raise new questions
    Frederic P Lemaigre
    Hepatology 48:358-60. 2008
  72. ncbi Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion
    Ayala Laufer-Cahana
    Division of Human Genetics and Molecular Biology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:190-3. 2002
    We report an 18-month-old girl with Alagille syndrome, caused by a submicroscopic deletion of chromosome 20p, including the Jagged1 (JAG1) gene. FISH using a BAC probe containing JAG1 identified the deletion...
  73. ncbi Gene symbol: JAG1. Disease: Alagille syndrome
    Maria Elena Conidi
    Azienda Ospedaliero Universitaria Pisana U O Citogenetica e Genetica Molecolare, Pisa, Roma, 67, 56100 Pisa, Italy
    Hum Genet 124:322. 2008
  74. ncbi Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance
    Binita M Kamath
    Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet 112:194-7. 2002
    b>Alagille syndrome is an autosomal dominant disorder affecting multiple organ systems, predominantly the liver, heart, skeleton, eye, face, and kidney. The phenotype in Alagille syndrome is highly variable both within and between families...
  75. ncbi Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor
    Zeng Rong Yuan
    National Children s Medical Research Center and National Children s Hospital, Tokyo 154, Japan
    J Mol Biol 356:559-68. 2006
    b>Alagille syndrome (AGS, MIM 118450) is an autosomal dominant inherited disease. Paucity of interlobular bile ducts is one of the major abnormalities...
  76. ncbi Molecular basis of cholestatic diseases of surgical interest
    Luis Alvarez
    Research Unit, La Paz Children s University Hospital, Madrid, Spain
    Semin Pediatr Surg 14:200-5. 2005
    ..to the knowledge of molecular basis of main pediatric cholestatic disorders, such as biliary atresia, Alagille syndrome, and familial intrahepatic cholestasis...
  77. ncbi The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia
    Takao Kohsaka
    Departments of Hepato Entero Nephrology, Immunology, Pediatric Surgery, and Pathology, National Center for Child Health and Development, Children s Medical Research Center, Tokyo, Japan
    Hepatology 36:904-12. 2002
    Mutations of human jagged 1 (JAG1) gene are responsible for Alagille Syndrome (AGS), whose 2 main symptoms are intrahepatic bile duct hypoplasia and pulmonary stenosis...
  78. ncbi Proliferation to paucity: evolution of bile duct abnormalities in a case of Alagille syndrome
    G H Deutsch
    Department of Pathology, The Children's Hospital and the University of Colorado School of Medicine, 1056 East 19th Avenue, Denver, CO 80218, USA
    Pediatr Dev Pathol 4:559-63. 2001
    b>Alagille syndrome is an autosomal dominant disorder characterized by abnormalities in multiple organ systems, including the liver, and is caused by mutations in JAG1...
  79. ncbi Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease
    P Renbaum
    Medical Genetics, Zohar PGD Lab, Shaare Zedek Medical Center, Jerusalem, Israel
    Prenat Diagn 27:317-21. 2007
    The development of a preimplantation genetic diagnosis (PGD) protocol for Alagille syndrome (AGS), a rare autosomal dominant disorder with hepatic, cardiac and ophthalmologic involvement.
  80. ncbi Bile duct proliferation in liver-specific Jag1 conditional knockout mice: effects of gene dosage
    Kathleen M Loomes
    Division of Gastroenterology, Hepatology and Nutrition, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Hepatology 45:323-30. 2007
    ..in the Notch pathway and has been identified as the disease-causing gene for the developmental disorder Alagille syndrome. Evidence from the study of human disease and mouse models has implicated Jag1 as having an important role ..
  81. ncbi Gene symbol: JAG1. Disease: Alagille syndrome
    Maria Elena Conidi
    Azienda Ospedaliero Universitaria Pisana U O Citogenetica e Genetica Molecolare, Pisa, Roma, 67, 56100 Pisa, Italy
    Hum Genet 124:322. 2008
  82. ncbi The genetics and ocular findings of Alagille syndrome
    Ben J Kim
    Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA
    Semin Ophthalmol 22:205-10. 2007
    b>Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development...
  83. ncbi Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography
    Hazuki Samejima
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Genet Test 11:216-27. 2007
    Mutations in the JAG1 gene and the NOTCH2 gene cause Alagille syndrome. At present, however, genetic testing of Alagille syndrome is not commonly applied in clinical settings because the currently available assays are technically and ..
  84. ncbi Vascular anomalies in Alagille syndrome
    Michelle Hadchouel
    Circulation 110:e327; author reply e327. 2004
  85. ncbi Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart
    Marie Leema P Robert
    Peninsula Clinical Genetics Service, Exeter, UK
    Clin Dysmorphol 16:241-6. 2007
    ..He has normal liver function tests, facial features consistent with Alagille syndrome, and mild learning difficulties...
  86. ncbi Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders
    Franck Bourdeaut
    Institut Curie, Departement de Pediatrie, Paris F 75246, France
    Pediatr Blood Cancer 50:908-11. 2008
    b>Alagille syndrome is a rare developmental disorder combining bile duct paucity, congenital cardiopathy, facial dysmorphy, vertebrae defects, and ocular abnormalities, and frequent renal abnormalities...
  87. ncbi Notch signaling in normal and disease States: possible therapies related to glycosylation
    Raajit Rampal
    Department of Biochemistry and Cell Biology, Institute for Cell and Developmental Biology, Stony Brook University, Stony Brook, New York, 11794 5215, USA
    Curr Mol Med 7:427-45. 2007
    ..implicated in an array of human diseases (T-cell leukemia and other cancers, Multiple Sclerosis, CADASIL, Alagille Syndrome, Spondylocostal Dysostosis)...
  88. ncbi Gene symbol: JAG1. Disease: Alagille syndrome
    Maria Elena Conidi
    Azienda Ospedaliero Universitaria Pisana, U O Citogenetica e Genetica Molecolare, Pisa, Roma, 67, 56100 Pisa, Italy
    Hum Genet 124:321-2. 2008
  89. ncbi [Pediatric liver transplantation]
    P Jara
    Servicio de Hepatología y Trasplantes, Hospital Infantil Universitario La Paz, Madrid, Spain
    Gastroenterol Hepatol 28:493-508. 2005
    ..Therefore, liver transplantation in children should be indicated prior a severe decompensation of the disease...
  90. ncbi [From gene to disease: arteriohepatic dysplasia or Alagille syndrome]
    A S Brooks
    Erasmus Medisch Centrum, afd Klinische Genetica, Dr Molewaterplein 50, 3015 GE Rotterdam
    Ned Tijdschr Geneeskd 147:1213-5. 2003
    b>Alagille syndrome (AGS), also known as arteriohepatic dysplasia, is an autosomal dominant disorder with a prevalence of approximately one in 70,000 live births...
  91. ncbi The role of notch signaling in the development of intrahepatic bile ducts
    Yuzo Kodama
    Department of Gastroenterology and Hepatology, Institute for Virus Research, Kyoto University, Kyoto 606 8507, Japan
    Gastroenterology 127:1775-86. 2004
    Mutations in Jagged1 , a Notch ligand, cause Alagille syndrome (AGS), a disorder characterized by a paucity of intrahepatic bile ducts (IHBD)...
  92. ncbi [Presinusoidal portal hypertension due to portal thrombosis in a patient with Alagille's syndrome]
    V Lorenzo-Zúñiga
    Servicio de Aparato Digestivo Hospital Universitari Germans Trias i Pujol Badalona Barcelona Spain
    Gastroenterol Hepatol 26:294-6. 2003
    ..Portal thrombosis is a manifestation previously unreported in association to this syndrome...
  93. ncbi Prenatal diagnosis of Alagille syndrome
    H Witt
    Department of Paediatrics, Humboldt Universitat, Berlin, Germany
    J Pediatr Gastroenterol Nutr 38:105-6. 2004
  94. pmc Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage
    Fengmin Lu
    Division of Human Genetics and Molecular Biology, Department of Pediatrics and Clinical Laboratories, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Am J Hum Genet 72:1065-70. 2003
    Mutations of Jagged 1 (JAG1), a ligand in the Notch signaling pathway, cause Alagille syndrome (AGS)...
  95. ncbi Notch signaling in vascular development
    Tatsuya Iso
    Second Department of Internal Medicine, Gunma University School of Medicine, Gunma 371 8511, Japan
    Arterioscler Thromb Vasc Biol 23:543-53. 2003
    ....
  96. ncbi Alagille syndrome--a notch up for the Notch receptor
    S Artavanis-Tsakonas
    Nat Genet 16:212-3. 1997
  97. ncbi Gene symbol: JAG1. Disease: Alagille syndrome
    C Glaeser
    Inst of Human Genetics and Medical Biology, Univ Halle
    Hum Genet 116:533. 2005
  98. pmc Consequences of JAG1 mutations
    B M Kamath
    Division of Gastroenterology, The Children s Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    J Med Genet 40:891-5. 2003
    b>Alagille syndrome (AGS) is a multi-system, autosomal dominant disorder with highly variable expressivity, caused by mutations within the Jagged1 (JAG1) gene.
  99. ncbi Duodenal tube test in the diagnosis of biliary atresia
    A Larrosa-Haro
    Servicios de Gastroenterologia, Hospital de Pediatria, Centro Medico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico
    J Pediatr Gastroenterol Nutr 32:311-5. 2001
    ..The aim of this study was to determine specificity, sensitivity, and predictive value of the duodenal tube test (DTT) in the diagnosis of BA in a series of infants with cholestatic jaundice...
  100. pmc Pregnancy after liver transplantation with tacrolimus immunosuppression: a single center's experience update at 13 years
    Ashokkumar B Jain
    Thomas E Starzl Transplantation Institute, Division of Transplantation, Department of Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Transplantation 76:827-32. 2003
    ..Tacrolimus has been increasingly used in solid-organ transplantation, and the effect of the drug on pregnancy is still of interest to clinicians. This study updates our single-center experience...
  101. pmc Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis
    Cong Liu
    Cincinnati Children s Hospital Medical Center and Department of Pediatrics, University of Cincinnati, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Gastroenterology 132:119-26. 2007
    ..cholestasis commonly result from mutations in the genes SERPINA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (progressive familial intrahepatic cholestasis type 1 [PFIC1]), ABCB11 (PFIC2), and ABCB4 (PFIC3)...

Research Grants34

  1. Colorado Center for Childhood Liver Disease Research and Education
    Ronald J Sokol; Fiscal Year: 2013
    ..CLiC), and include biliary atresia, idiopathic neonatal hepatitis, alpha- i-antitrypsin deficiency, Alagille syndrome, progressive familial intrahepatic cholestasis, bile acid synthesis defects, mitochondrial hepatopathies, ..
  2. The Pittsburgh Cholestatic Liver Disease Consortium
    Benjamin L Shneider; Fiscal Year: 2013
    Neonatal cholestatic liver diseases including Alagille syndrome, alpha-1 antitrypsin deficiency, bile acid synthesis defects, biliary atresia, cystic fibrosis, mitochondrial hepatopathies and progressive familial intrahepatic ..
  3. Establichment of CHLA's ChilDREN Clinical Center
    KASPER SAONUN WANG; Fiscal Year: 2013
    ..BA) and idiopathic neonatal hepatitis, studied under the Biliary Atresia Research Consortium, along with Alagille syndrome (AGS), alpha-1-antitrypsin deficiency, progressive intrahepatic cholestasis, bile acid synthesis defects, ..
  4. Center for the Study of Pediatric Cholestasis
    Ronen Arnon; Fiscal Year: 2013
    ..of genotype with phenotype, and prognosis of inherited forms of intrahepatic cholestasis including Alagille syndrome, alpha-1-antitrypsin deficiency, progressive familial intrahepatic cholestasis (PFIC), and bile acid ..
  5. Rare Liver Disease Network
    Ronald J Sokol; Fiscal Year: 2010
    ..The five related disorders are alpha-1-antitrypsin deficiency, Alagille syndrome, progressive familial intrahepatic cholestasis (PFIC), bile acid synthesis and metabolism defects and ..
  6. Childhood Liver Disease Research and Education Network (CHiLDREN) - UCSF (CC)
    Philip Rosenthal; Fiscal Year: 2013
    ..5) Phase l/ll study of new agents to treat cholestasis in children. 6) Study of modifier genes in Alagille Syndrome and Alpha-1-antrypsin disease...
  7. Molecular mechanisms of Bile Duct Proliferation in Mice with Glycosylation Defect
    MATTHEW JOSEPH RYAN; Fiscal Year: 2012
    ..b>Alagille syndrome (ALGS) is an autosomal dominant multi-system disorder caused by mutations in either the JAG1 or NOTCH2 genes ..
  8. Epithelial-mesenchymal interactions in facial patterning
    GAGE D CRUMP; Fiscal Year: 2013
    ..Mutations in Jag1 result in facial defects not only in zebrafish but also in humans with Alagille Syndrome, and hence these investigations have had direct implications for understanding how craniofacial development ..
  9. Cell-Cell Signaling During Mammalian Early Eye Formation
    Nadean L Brown; Fiscal Year: 2011
    ..Additionally, dominant human mutations in the Notch ligand Jagged1 cause Alagille syndrome in which some patients exhibit congenital, anterior eye deformities...
  10. O-Glycosylation of Epidermal Growth Factor-like Motifs
    Robert S Haltiwanger; Fiscal Year: 2013
    ..g. T-cell acute lymphoblastic leukemia), and developmental disorders such as Alagille Syndrome and congenital heart defects...
  11. Emory Clinical Center: Childhood Liver Disease Research and Education Network
    Rene Romero; Fiscal Year: 2011
    ..Genetic cholestatic liver diseases, such as alagille syndrome, progressive familial intrahepatic cholestasis, mitochondrial hepatopathies and cystic fibrosis associated ..
  12. Genetic Modifiers of Liver Disease Severity in Alagille Syndrome
    Nancy Bettina Spinner; Fiscal Year: 2013
    ..is a proposal to identify clinically relevant modifiers of the severity of hepatic disease in patients with Alagille Syndrome (AGS) AGS is an autosomal dominant, multi-system, variably expressed disorder caused by mutations in one of ..
  13. Advancing our Understanding of Rare Pediatric Liver Diseases
    KATHLEEN MARY LOOMES; Fiscal Year: 2013
    ..in the national collaborative process focusing on biliary atresia (BA), hepatic mitochondropathies, Alagille syndrome (AGS), alpha-one antitrypsin deficiency, progressive familial intrahepatic cholestasis, bile acid synthetic ..
  14. Jagged-Notch and Fgf signaling: patterning the vertebrate upper face
    ELIZABETH ZUNIGA-SANCHEZ; Fiscal Year: 2012
    ..In humans, mutations in Jagged and Notch have been linked to Alagille syndrome, whereas aberrant Fgf signaling results in Crouzon syndrome...
  15. Rare Liver Disease Network
    Ronald Sokol; Fiscal Year: 2005
    ..The five related disorders are alpha-1-antitrypsin deficiency, Alagille syndrome, progressive familial intrahepatic cholestasis (PFIC), bile acid synthesis and metabolism defects and ..
  16. GROWTH AND NUTRITION IN ALAGILLE SYNDROME
    ANDREW MULBERG; Fiscal Year: 1999
    DESCRIPTION (Taken from application) Growth failure and malnutrition are common clinical features in Alagille syndrome (AS) and whose pathobiology is poorly understood...
  17. Molecular Biology of Cardiac Valvuloseptal Morphogenesis
    DAVID GEENAN; Fiscal Year: 2006
    ..Among these is Jag-l, a ligand for the Notch signaling pathway that is deleted or mutated in Alagille syndrome and in some cases of tetralogy of Fallot...
  18. GENETIC BASIS OF THE ALAGILLE SYNDROME
    Elizabeth Rand; Fiscal Year: 1999
    The aim of this project is to identify and characterize the gene or genes responsible for the Alagille syndrome. Elucidation of the genetic basis of the syndrome will necessarily include gene identification followed by studies of gene ..
  19. Molecular Mechanisms of Segmentation
    Cordelia Rauskolb; Fiscal Year: 2005
    ..in human Notch pathway genes have been implicated in leukemia (TAN-1), stroke and dementia (CADASIL), and Alagille syndrome, a childhood syndrome resulting in chronic liver disease and segmentation defects...
  20. Modifiers of a Mouse Model of Alagille Syndrome
    Thomas Gridley; Fiscal Year: 2008
    unreadable] DESCRIPTION (provided by applicant): Alagille syndrome is an autosomal dominant disorder characterized by developmental abnormalities of the liver, heart, eye, skeleton and kidney...
  21. The Role of the Notch Pathway in Bile Duct Development
    KATHLEEN MARY LOOMES; Fiscal Year: 2010
    ..Identification of Jag1 as the disease gene for Alagille syndrome (AGS), an autosomal dominant disorder characterized by bile duct paucity along with anomalies in other organ ..
  22. MOLECULAR ANALYSIS IN ALAGILLE SYNDROME
    Ian Krantz; Fiscal Year: 2002
    DESCRIPTION (taken from application) Alagille syndrome (syndromic bile duct paucity) is a dominant genetic disorder affecting the liver, heart, eye, vertebrae and facial structures...
  23. SIGNALING MOLECULES IN BILE DUCT DEVELOPMENT
    Kathleen Loomes; Fiscal Year: 2004
    ..In addition, patients with a mutation or deletion of one copy of Jagged1 have Alagille syndrome, a disorder characterized by cholestasis and paucity of the intrapepatic bile ducts, along with ..
  24. THE ROLE OF NOTCH SIGNALING IN BILE DUCT DEVELOPMENT
    Kathleen Loomes; Fiscal Year: 2004
    ..The recent identification of Jag1 as the disease gene for Alagille syndrome (AGS), a multisystem developmental disorder involving bile duct paucity as a cardinal feature, implicates ..
  25. CdLS Scientific Symposium and 22nd National Meeting
    Ian Krantz; Fiscal Year: 2004
    ..This meeting will benefit the participants as well as families of affected individuals. ..
  26. Multidisciplinary Study of Right Ventricular Dysplasia
    Jeffrey Towbin; Fiscal Year: 2005
    ..This integrated research grant proposal offers a substantial prospect of expanding the fund of clinical knowledge regarding ARVD and of localizing the gene(s) responsible for this disorder. ..
  27. Molecular Analysis of the Cornelia de Lange Syndrome
    Ian Krantz; Fiscal Year: 2005
    ..abstract_text> ..
  28. Outcomes of Genetic Testing for Hearing Impairment
    Ian Krantz; Fiscal Year: 2005
    ..abstract_text> ..
  29. Development of Choroid Plexus and the Blood-CSF Barrier
    Angeliki Louvi; Fiscal Year: 2006
    ....
  30. Occult Hepatitis B
    Michael Torbenson; Fiscal Year: 2007
    ..abstract_text> ..
  31. Molecular Analysis of Alagille Syndrome
    NANCY SPINNER; Fiscal Year: 2006
    ..b>Alagille syndrome is a dominantly inherited genetic disease that results in developmental abnormalities of the liver, heart, ..
  32. THE GENETIC BASIS OF CHOLESTASIS
    Laura Bull; Fiscal Year: 2009
    ..abstract_text> ..
  33. A role for the CdLS gene NIPBL in HP1 gene silencing
    Ian Krantz; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..