rdf:type |
|
lifeskim:mentions |
umls-concept:C0008633,
umls-concept:C0017337,
umls-concept:C0017428,
umls-concept:C0028326,
umls-concept:C0086418,
umls-concept:C0205147,
umls-concept:C0475264,
umls-concept:C1283195,
umls-concept:C1333256,
umls-concept:C1511545,
umls-concept:C1880022
|
pubmed:issue |
6
|
pubmed:dateCreated |
2001-1-10
|
pubmed:abstractText |
The human Deltex (DTX1) gene encodes a cytoplasmic protein that functions as a positive regulator of the Notch signaling pathway. We have determined the genomic organization and map location of the human gene. DTX1 encodes a 2.5-kb cDNA that is composed of nine exons. The DTX1 gene maps to chromosomal region 12q24 in the vicinity of the Noonan syndrome critical region. We have fine-mapped DTX1 to within this critical region and evaluate it as a candidate gene for this disorder.
|
pubmed:grant |
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Dec
|
pubmed:issn |
0340-6717
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
107
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
577-81
|
pubmed:dateRevised |
2007-11-14
|
pubmed:meshHeading |
pubmed-meshheading:11153911-Carrier Proteins,
pubmed-meshheading:11153911-Chromosome Mapping,
pubmed-meshheading:11153911-Chromosomes, Human, Pair 12,
pubmed-meshheading:11153911-DNA Mutational Analysis,
pubmed-meshheading:11153911-Humans,
pubmed-meshheading:11153911-Membrane Proteins,
pubmed-meshheading:11153911-Noonan Syndrome,
pubmed-meshheading:11153911-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11153911-Proteins,
pubmed-meshheading:11153911-Receptors, Notch,
pubmed-meshheading:11153911-Signal Transduction
|
pubmed:year |
2000
|
pubmed:articleTitle |
Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene.
|
pubmed:affiliation |
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA.
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|