Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia (Q24309601)

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3 November 2019

title

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia (English)

1 reference

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RUNX family transcription factor 2

3 November 2019

main subject

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DNA-binding transcription factor activity

GOA release 2020-03-11

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GOA release 2020-03-11

cleidocranial dysplasia

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7

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3 November 2019

author name string

S Mundlos

1

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3 November 2019

F Otto

2

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3 November 2019

C Mundlos

3

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3 November 2019

J B Mulliken

4

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3 November 2019

A S Aylsworth

5

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3 November 2019

S Albright

6

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3 November 2019

W G Cole

8

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3 November 2019

W Henn

9

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3 November 2019

J H Knoll

10

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3 November 2019

M J Owen

11

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3 November 2019

R Mertelsmann

12

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3 November 2019

B U Zabel

13

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B R Olsen

14

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publication date

1 May 1997

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3 November 2019

language of work or name

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3 November 2019

volume

89

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3 November 2019

issue

5

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page(s)

773-779

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PEBP2 alpha B/mouse AML1 consists of multiple isoforms that possess differential transactivation potentials

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: use of single-yeast-colony PCR and multiple labeling

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Toward a molecular understanding of skeletal development

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

The Drosophila segmentation gene runt encodes a novel nuclear regulatory protein that is also expressed in the developing nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

The tissue-specific nuclear matrix protein, NMP-2, is a member of the AML/CBF/PEBP2/runt domain transcription factor family: interactions with the osteocalcin gene promoter

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Alternative splicing and genomic structure of theAML1gene involved in acute myeloid leukemia

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development-matrix components and their homeostasis.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Mutations affecting segment number and polarity in Drosophila

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

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/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Animal model: skeletal anomalies in mice with cleidocranial dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980260-3

7 January 2021

10.1016/S0092-8674(00)80260-3

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

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3 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017