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Developing models of DiGeorge syndrome
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Developing models of DiGeorge syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
author name string
Epstein JA
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
publication date
1 October 2001
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
published in
Trends in Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
volume
17
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
page(s)
S13-7
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
issue
10
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
cites work
Neural crest cells contribute to normal aorticopulmonary septation
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7 January 2021
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Generalized lacZ expression with the ROSA26 Cre reporter strain
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7 January 2021
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A novel transgenic technique that allows specific marking of the neural crest cell lineage in mice
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7 January 2021
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Neural crest expression of Cre recombinase directed by the proximal Pax3 promoter in transgenic mice
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Crossref
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Persistent truncus arteriosus in the Splotch mutant mouse
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Crossref
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7 January 2021
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A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant
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Crossref
reference URL
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7 January 2021
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Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.
1 reference
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Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles
1 reference
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Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
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7 January 2021
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Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
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Crossref
reference URL
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7 January 2021
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A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
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reference URL
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7 January 2021
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Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1
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Crossref
reference URL
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7 January 2021
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Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice
1 reference
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Crossref
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7 January 2021
based on heuristic
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Disruption of ECE-1 and ECE-2 reveals a role for endothelin-converting enzyme-2 in murine cardiac development
1 reference
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Crossref
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7 January 2021
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Genetic basis of DiGeorge and velocardiofacial syndromes.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
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inferred from DOI database lookup
Transcriptional regulation of cardiac development: implications for congenital heart disease and DiGeorge syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
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inferred from DOI database lookup
Frequency of 22q11 deletions in patients with conotruncal defects
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
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Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
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inferred from DOI database lookup
Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital heart disease in mice deficient for the DiGeorge syndrome region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
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HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902450-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0168-9525(01)02450-7
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
Fatcat ID
release_cut5wnzrejadtougufzi5srnyu
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/cut5wnzrejadtougufzi5srnyu
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
PubMed ID
11585671
1 reference
stated in
Europe PubMed Central
PubMed ID
11585671
retrieved
1 August 2017
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