New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. (Q48296544)

10 February 2018

title

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

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10 February 2018

author name string

Machuca-Tzili L

1

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10 February 2018

Monroy-Jaramillo N

2

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10 February 2018

González-del Angel A

3

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10 February 2018

Kofman-Alfaro S

4

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10 February 2018

publication date

1 May 2002

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10 February 2018

published in

Clinical Genetics

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10 February 2018

volume

61

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10 February 2018

issue

5

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10 February 2018

page(s)

349-353

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10 February 2018

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

cites work

1 reference

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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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

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Cbfa1: a molecular switch in osteoblast biology

21 January 2018

1 reference

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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

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Transcriptional activation modulated by homopolymeric glutamine and proline stretches

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

21 January 2018

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21 January 2018

Cleidocranial dysostosis

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7 January 2021

Intrafamilial variability in cleidocranial dysplasia: a three generation family

1 reference

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7 January 2021

Cementum and other root abnormalities of permanent teeth in cleidocranial dysostosis

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7 January 2021

Development of the dentition in cleidocranial dysplasia

1 reference

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7 January 2021

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

1 reference

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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

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7 January 2021

10.1034/J.1399-0004.2002.610505.X

Identifiers

DOI

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10 February 2018

PubMed ID

12081718

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10 February 2018