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Case Report - Alagille syndrome with prominent skin manifestations, 12/2005
Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests 5 major features: paucity of interlobular bile ducts, characteristic... 
Alagille syndrome, Arteriohepatic dysplasia, Xanthomata
Journal
06/2013
Objective: Paucity of interlobular bile ducts (PIBD), defined as absence or marked decrease in the number of interlobular bile ducts, is one of the causes of... 
Neonates | Alagille Syndrome | Cholestasis | Paucity of Interlobular Bile Ducts
Web Resource
Journal of pediatric surgery, ISSN 0022-3468, 05/2019
Alagille syndrome (ALGS) is an autosomal dominant disorder, characterized by a paucity of intrahepatic bile ducts, resulting in significant cholestasis, and... 
Journal Article
Liver international : official journal of the International Association for the Study of the Liver, ISSN 1478-3223, 5/2016, Volume 36, Issue 5, pp. 755 - 760
Journal Article
Annales de Biologie Clinique, ISSN 0003-3898, 12/2018, Volume 76, Issue 6, pp. 675 - 680
We report the case of an infant hospitalized for neonatal anoxic ischemia in whom the diagnosis of Alagille syndrome (SAG ; MIM # 118450) was suspected in the... 
Alagille syndrome | Bisalbuminemia | JAG1 gene
Journal Article
International Cardiovascular Research Journal, ISSN 2251-9130, 2017, Volume 11, Issue 3, pp. 119 - 122
Isolated Unilateral Absent Pulmonary Artery (UAPA) is a rare congenital anomaly. It is usually associated with congenital heart defects. A 45 year old male... 
Alagille syndrome | Coronary artery disease | Alagille Syndrome | Coronary Artery Disease
Journal Article
대한피부과학회지, ISSN 0494-4739, 2015, Volume 53, Issue 1, p. 71
Alagille syndrome (AS)은 조직학적으로 간의 소엽간 쓸개관수의 결핍을 보이면서, 특징적인 얼굴형(넓은 이마, 움푹한 눈, 뾰족한 턱), 만성 담즙울체, 후태생환(posterior embryotoxon), 나비모양 척추와 심혈관 기형을 동반한 말초 폐동맥 협착 등을... 
Alagille syndrome | Xanthoma | Cholestasis
Journal Article
Obstetric Medicine, ISSN 1753-495X, 2019, p. 1753495
Journal Article
The Application of Clinical Genetics, ISSN 1178-704X, 06/2016, Volume 2016, Issue Issue 1, pp. 75 - 82
Maha Saleh,1 Binita M Kamath,2 David Chitayat1,3 1Division of Clinical and Metabolic Genetics, 2Division of Gastroenterology, Hepatology and Nutrition,... 
Alagille syndrome (ALGS) | genetics | liver
Journal Article
NATURE IMMUNOLOGY, ISSN 1529-2908, 12/2012, Volume 13, Issue 12, pp. 1213 - U114
CD46 is a complement regulator with important roles related to the immune response. CD46 functions as a pathogen receptor and is a potent costimulator for the... 
COFACTOR PROTEIN CD46 | ACTIVATION | HEMOLYTIC-UREMIC SYNDROME | MULTIPLE-SCLEROSIS | ALAGILLE-SYNDROME | CIS-INHIBITION | NOTCH | IMMUNOLOGY | EXPRESSION | T-CELLS | HELPER-CELL DIFFERENTIATION
Journal Article
Archivos Argentinos de Pediatria, ISSN 0325-0075, 04/2018, Volume 116, Issue 2, pp. 149 - 153
Introduction. Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic... 
Alagille syndrome | Kidney diseases | PEDIATRICS | PAUCITY | kidney diseases
Journal Article
Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva, ISSN 1130-0108, 04/2019, Volume 111, Issue 4, pp. 323 - 326
Alagille syndrome (ALGS) is an autosomal-dominant multisystem disorder caused by mutations in Jagged 1 (JAG1) or NOTCH2. The penetrance is low but highly... 
Adult | JAG1 | GASTROENTEROLOGY & HEPATOLOGY | Alagille syndrome | Cholestasis | FAMILY
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 05/2015, Volume 125, Issue 5, pp. 1886 - 1900
Liver cholestatic diseases, which stem from diverse etiologies, result in liver toxicity and fibrosis and may progress to cirrhosis and liver failure. We show... 
MEDICINE, RESEARCH & EXPERIMENTAL | EMERGING ROLES | ALAGILLE-SYNDROME | SOLUBLE FORM | PRO-ANGIOGENIC ACTIVITIES | MOUSE MODEL | OVAL CELLS | MATRICELLULAR PROTEIN CCN1 | CELLULAR SENESCENCE | FUNCTIONAL-HETEROGENEITY | HUMAN JAGGED1
Journal Article
HEPATOLOGY, ISSN 0270-9139, 06/2018, Volume 67, Issue 6, pp. 2352 - 2366
Malformations of the intrahepatic biliary structure cause cholestasis, a liver pathology that corresponds to poor bile flow, which leads to inflammation,... 
ALAGILLE-SYNDROME | TUBULOGENESIS | BILE-DUCT DEVELOPMENT | GROWTH | MICE | JAGGED1 | DIFFERENTIATION | LIVER DEVELOPMENT | BETA-CATENIN | FATE | GASTROENTEROLOGY & HEPATOLOGY
Journal Article
Science, ISSN 0036-8075, 02/2015, Volume 347, Issue 6224, pp. 847 - 853
Notch receptors guide mammalian cell fate decisions by engaging the proteins Jagged and Delta-like (DLL). The 2.3 angstrom resolution crystal structure of the... 
DOMAIN | ALAGILLE-SYNDROME | SIGNALING PATHWAY | FRINGE | MULTIDISCIPLINARY SCIENCES | LIGAND-BINDING REGION | O-LINKED FUCOSE | JAGGED1 | MUTATIONS | CIS-INTERACTIONS | DROSOPHILA | Proteins | Protein research | Research | Binding proteins | Structure | Health aspects | Signaling | Neurons | Residues | Notches | Decisions | Ligands | Mammals | Glycan | Crystal structure | 60 APPLIED LIFE SCIENCES
Journal Article
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