Jagged1 mutation analysis in Alagille syndrome patients
نویسندگان
چکیده
منابع مشابه
Jagged1 mutations in alagille syndrome.
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. Mutations have been demonstrated in 60-75% of patients with a clinically confirmed diagnosis of Alagille syndrome. Total gene deletions have been reported in 3-7% of patients, and the...
متن کاملJAGGED1 gene variations in Chinese twin sisters with Alagille syndrome.
Variations in the JAGGED1 gene have been found to cause Alagille syndrome. Nevertheless, no particular hotspots in the gene have been found; any part of the entire coding regions for JAGGED1 may be involved. Twin sisters with jaundice visited our hospital and were diagnosed with Alagille syndrome. The gene variations in their JAGGED1 coding sequences were evaluated by complementary DNA sequenci...
متن کاملCranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.
JAGGED1 mutations cause Alagille syndrome, comprising a constellation of clinical findings, including biliary, cardiac and craniofacial anomalies. Jagged1, a ligand in the Notch signaling pathway, has been extensively studied during biliary and cardiac development. However, the role of JAGGED1 during craniofacial development is poorly understood. Patients with Alagille syndrome have midface hyp...
متن کاملAlagille syndrome with a previously undescribed mutation.
BACKGROUND Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies. CASE CHARACTERISTICS An 8-year old child with persisting jaundice, severe itching and failure to thrive. OBSERVATION Diagnosis of Alagille syndrome was made on the basis of clinical features, typical facies and liver biops...
متن کاملBiological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.
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 peculiar facies. Most of the JAGGED1 mutations generate premature termination codons, and as a result, two pathogenic mechanisms causing AGS have been proposed: hapl...
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2006
ISSN: 1738-1061
DOI: 10.3345/kjp.2006.49.5.519