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Mutations of the TWIST gene in the Saethre-Chotzen syndrome
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title
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
(English)
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main subject
Twist family bHLH transcription factor 1
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stated in
GOA release 2020-03-11
embryonic cranial skeleton morphogenesis
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stated in
GOA release 2020-03-11
Twist basic helix-loop-helix transcription factor 1
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stated in
GOA release 2020-03-11
Saethre-Chotzen syndrome
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based on heuristic
inferred from title
author
Arnold Munnich
series ordinal
9
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Patrice Bourgeois
object named as
P Bourgeois
series ordinal
7
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author name string
V el Ghouzzi
series ordinal
1
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M Le Merrer
series ordinal
2
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F Perrin-Schmitt
series ordinal
3
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E Lajeunie
series ordinal
4
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P Benit
series ordinal
5
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D Renier
series ordinal
6
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A L Bolcato-Bellemin
series ordinal
8
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J Bonaventure
series ordinal
10
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language of work or name
English
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publication date
January 1997
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published in
Nature Genetics
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volume
15
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page(s)
42-6
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issue
1
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exact match
https://scigraph.springernature.com/pub.10.1038/ng0197-42
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cites work
Saethre-Chotzen syndrome
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Possible genetic heterogeneity in the Saethre-Chotzen syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FGFR2 mutations in Pfeiffer syndrome
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The protein Id: a negative regulator of helix-loop-helix DNA binding proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
twist is required in head mesenchyme for cranial neural tube morphogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new DNA binding and dimerization motif in immunoglobulin enhancer binding, daughterless, MyoD, and myc proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and the Drosophila twist genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dorso-ventral and rostro-caudal sequential expression of M-twist in the postimplantation murine embryo.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of a dominant negative mutant of the FGF receptor disrupts mesoderm formation in Xenopus embryos
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Murine FGFR-1 is required for early postimplantation growth and axial organization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0197-42
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0197-42
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1833010
Dimensions Publication ID
1016465731
0 references
OpenCitations bibliographic resource ID
1833010
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1833010
PubMed ID
8988167
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1833010
ResearchGate publication ID
14220304
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