Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. (Q45345530)

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4 November 2019

title

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia (English)

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4 November 2019

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4

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4 November 2019

Valérie Geoffroy

7

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4 November 2019

author name string

Lee B

1

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4 November 2019

Thirunavukkarasu K

2

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4 November 2019

Zhou L

3

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4 November 2019

Baldini A

5

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4 November 2019

Hecht J

6

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4 November 2019

Ducy P

8

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4 November 2019

Karsenty G

9

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4 November 2019

language of work or name

English

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publication date

1 July 1997

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4 November 2019

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4 November 2019

volume

16

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4 November 2019

page(s)

307-310

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4 November 2019

issue

3

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https://scigraph.springernature.com/pub.10.1038/ng0797-307

4 November 2019

exact match

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cites work

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

The Runt domain identifies a new family of heteromeric transcriptional regulators.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Comparison of the human genomic structure of the Runt domain-encoding PEBP2/CBFalpha gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Two distinct osteoblast-specific cis-acting elements control expression of a mouse osteocalcin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

What do BMPs do in mammals? Clues from the mouse short-ear mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Bone dysplasias in man: molecular insights

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Synpolydactyly in mice with a targeted deficiency in the HoxD complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

7 January 2021

The localized requirements for a gene affecting segmentation in Drosophila: analysis of larvae mosaic for runt

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

7 January 2021

AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

7 January 2021

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

7 January 2021

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

7 January 2021

Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

7 January 2021

c-Fos: a key regulator of osteoclast-macrophage lineage determination and bone remodeling

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

7 January 2021

Mapping human YAC clones by fluorescence in situ hybridization using Alu-PCR from single yeast colonies

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

7 January 2021

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

1 reference

https://api.crossref.org/works/10.1038%2FNG0797-307

7 January 2021

Identifiers

DOI

10.1038/NG0797-307

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9207800%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 November 2019

1000139752

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Fatcat ID

release_kumxr6ax3jgi7i5r6wbfis4o7i

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Fatcat

https://api.fatcat.wiki/v0/release/kumxr6ax3jgi7i5r6wbfis4o7i

24 November 2022

mapped directly with Wikidata item

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