A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals (Q28211953)

ORCID Public Data File 2021

author name string

N Elanko

1

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J S Sibbring

2

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K A Metcalfe

3

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J Clayton-Smith

4

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D Donnai

5

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I K Temple

6

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S A Wall

7

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A O Wilkie

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

8

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language of work or name

English

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publication date

December 2001

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published in

Human Mutation

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volume

18

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issue

6

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page(s)

535-41

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Mutations of the TWIST gene in the Saethre-Chotzen syndrome

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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

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Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A

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Active repression mechanisms of eukaryotic transcription repressors

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Analysis of a Caenorhabditis elegans Twist homolog identifies conserved and divergent aspects of mesodermal patterning

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A Xenopus mRNA related to Drosophila twist is expressed in response to induction in the mesoderm and the neural crest

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DNA-bending finger: artificial design of 6-zinc finger peptides with polyglycine linker and induction of DNA bending

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A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

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Human Dermo-1 has attributes similar to twist in early bone development

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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The twist gene: isolation of a Drosophila zygotic gene necessary for the establishment of dorsoventral pattern

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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

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Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome

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Arabidopsis thaliana ECP63 encoding a LEA protein is located in chromosome 4

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