Linked Life Data

10960452

Source:http://linkedlifedata.com/resource/pubmed/id/10960452

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2000-9-14
pubmed:abstractText
Mutations of the JAGGED1 gene, encoding a NOTCH receptor ligand, cause Alagille syndrome (AGS), a complex malformative disorder affecting mainly the liver, heart, vertebrae, eye, and face. Minor and occasional features involving kidney, pharynx, systemic arteries, skeleton, and ear are in some cases associated with the syndrome. To describe the expression of JAGGED1 during human embryogenesis and to study its relationship with all the features of AGS, we performed in situ hybridization studies on human embryos and fetal tissue sections. JAGGED1 was mainly expressed in the cardiovascular system. In the liver, JAGGED1 transcripts were only detected in blood vessels. JAGGED1 was also expressed in other structures of mesenchymal origin (distal mesenchyme of limb buds; mesonephric and metanephric tubules of the kidney) and in epithelial structures including the ciliary margin of the retina and the posterior part of the lens, the ventral epithelium of the otic vesicle, the neurosensory epithelium of the ear vestibule, the epithelium of pharyngeal arches, and the developing central nervous system. The strong JAGGED1 expression during human embryo- and feto-genesis both in the vascular system and in other mesenchymal and epithelial tissues implicates abnormal angiogenesis in the pathogenesis of Alagille syndrome and particularly the paucity of interlobular bile ducts. However, it is probably not the only mechanism of the disease. Except for the central nervous system, there is a strong correlation between JAGGED1 expression and all the features of AGS. This implies that the features occasionally associated with the syndrome are not coincidental.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0270-9139
pubmed:author
pubmed:issnType
Print
pubmed:volume
32
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
574-81
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:10960452-Alagille Syndrome, pubmed-meshheading:10960452-Calcium-Binding Proteins, pubmed-meshheading:10960452-Cardiovascular System, pubmed-meshheading:10960452-Digestive System, pubmed-meshheading:10960452-Embryo, Mammalian, pubmed-meshheading:10960452-Embryonic and Fetal Development, pubmed-meshheading:10960452-Gene Expression, pubmed-meshheading:10960452-Humans, pubmed-meshheading:10960452-Intercellular Signaling Peptides and Proteins, pubmed-meshheading:10960452-Membrane Proteins, pubmed-meshheading:10960452-Nervous System, pubmed-meshheading:10960452-Pharynx, pubmed-meshheading:10960452-Phenotype, pubmed-meshheading:10960452-Proteins, pubmed-meshheading:10960452-RNA, Messenger, pubmed-meshheading:10960452-Respiratory System, pubmed-meshheading:10960452-Urogenital System
pubmed:year
2000
pubmed:articleTitle
JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome.
pubmed:affiliation
Unité INSERM 347 affiliée au CNRS, Le Kremlin-Bicêtre Cedex, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't