(Q48296544)

10 February 2018

title

New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia (English)

1 reference

10 February 2018

author name string

Machuca-Tzili L

1

1 reference

10 February 2018

Monroy-Jaramillo N

2

1 reference

10 February 2018

González-del Angel A

3

1 reference

10 February 2018

Kofman-Alfaro S

4

1 reference

10 February 2018

publication date

1 May 2002

1 reference

10 February 2018

published in

Clinical Genetics

1 reference

10 February 2018

volume

61

1 reference

10 February 2018

issue

5

1 reference

10 February 2018

page(s)

349-353

1 reference

10 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Cbfa1: a molecular switch in osteoblast biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Two domains unique to osteoblast-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfbeta

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Transcriptional activation modulated by homopolymeric glutamine and proline stretches

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

The α-chain-termination mutants and their relation to the α-thalassaemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Erythroid cell-specific mRNA stability elements in the alpha 2-globin 3' nontranslated region

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

21 January 2018

Cleidocranial dysostosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

7 January 2021

Intrafamilial variability in cleidocranial dysplasia: a three generation family

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

7 January 2021

Cementum and other root abnormalities of permanent teeth in cleidocranial dysostosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

7 January 2021

Development of the dentition in cleidocranial dysplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

7 January 2021

CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

7 January 2021

PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

7 January 2021

Haemoglobin Constant Spring has an unstable alpha chain messenger RNA

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610505.X

7 January 2021

10.1034/J.1399-0004.2002.610505.X

Identifiers

DOI

1 reference

10 February 2018

1 reference

10 February 2018