Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype–phenotype correlations (Q53862836)

21 May 2018

reason for preferred rank

title

Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype–phenotype correlations (English)

1 reference

https://api.crossref.org/works/10.1016/S1079-9796(03)00020-2

30 December 2023

Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations (English)

1 reference

PubMed ID

12732182

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12732182

30 December 2023

main subject

cleidocranial dysplasia

1 reference

1 reference

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https://api.crossref.org/works/10.1016/S1079-9796(03)00020-2

30 December 2023

1 reference

https://api.crossref.org/works/10.1016/S1079-9796(03)00020-2

30 December 2023

2

Hirokazu Kanegane

1 reference

21 May 2018

author name string

Taketoshi Yoshida

1

1 reference

21 May 2018

Motomi Osato

3

1 reference

21 May 2018

Masatoshi Yanagida

4

1 reference

21 May 2018

Toshio Miyawaki

5

1 reference

21 May 2018

Yoshiaki Ito

6

1 reference

21 May 2018

Katsuya Shigesada

7

1 reference

21 May 2018

language of work or name

English

1 reference

National Center for Biotechnology Information

PubMed ID

12732182

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12732182

30 December 2023

publication date

1 March 2003

1 reference

21 May 2018

full work available at URL

https://api.elsevier.com/content/article/PII:S1079979603000202?httpAccept=text/xml

1 reference

DOI

https://api.crossref.org/works/10.1016/S1079-9796(03)00020-2

https://api.elsevier.com/content/article/PII:S1079979603000202?httpAccept=text/plain

30 December 2023

1 reference

DOI

https://api.crossref.org/works/10.1016/S1079-9796(03)00020-2

Blood Cells, Molecules and Diseases

30 December 2023

published in

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21 May 2018

volume

30

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21 May 2018

issue

2

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21 May 2018

page(s)

184-193

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21 May 2018

Cleidocranial dysostosis. A review of 40 new cases

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7 January 2021

Intrafamilial variability in cleidocranial dysplasia: a three generation family

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

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7 January 2021

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

1 reference

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7 January 2021

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

1 reference

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7 January 2021

Animal model: skeletal anomalies in mice with cleidocranial dysplasia.

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7 January 2021

Purification of a mouse nuclear factor that binds to both the A and B cores of the polyomavirus enhancer

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7 January 2021

Sequence specificity of the core-binding factor

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7 January 2021

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

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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

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7 January 2021

t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1

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7 January 2021

Cloning, mapping and expression of PEBP2 alpha C, a third gene encoding the mammalian Runt domain

1 reference

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7 January 2021

Identification of a new murine runt domain-containing gene, Cbfa3, and localization of the human homolog, CBFA3, to chromosome 1p35-pter

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Causal relationship between the loss of RUNX3 expression and gastric cancer

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7 January 2021

The Runx3 transcription factor regulates development and survival of TrkC dorsal root ganglia neurons

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7 January 2021

Runx3 controls the axonal projection of proprioceptive dorsal root ganglion neurons

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7 January 2021

Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor

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https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

Absence of fetal liver hematopoiesis in mice deficient in transcriptional coactivator core binding factor beta

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

Core-binding factor beta interacts with Runx2 and is required for skeletal development

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

Cbfbeta interacts with Runx2 and has a critical role in bone development

1 reference

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7 January 2021

The core-binding factor beta subunit is required for bone formation and hematopoietic maturation

1 reference

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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%2FS1079-9796%2803%2900020-2

7 January 2021

Functional dissection of the alpha and beta subunits of transcription factor PEBP2 and the redox susceptibility of its DNA binding activity

1 reference

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7 January 2021

Intrinsic transcriptional activation-inhibition domains of the polyomavirus enhancer binding protein 2/core binding factor alpha subunit revealed in the presence of the beta subunit

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7 January 2021

Dimerization with PEBP2beta protects RUNX1/AML1 from ubiquitin-proteasome-mediated degradation

1 reference

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7 January 2021

Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

The leukemia-associated AML1 (Runx1)--CBF beta complex functions as a DNA-induced molecular clamp

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

Molecular insights into PEBP2/CBF beta-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBF beta

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7 January 2021

Immunoglobulin motif DNA recognition and heterodimerization of the PEBP2/CBF Runt domain

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7 January 2021

Solution structure of core binding factor beta and map of the CBF alpha binding site

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7 January 2021

The Ig fold of the core binding factor alpha Runt domain is a member of a family of structurally and functionally related Ig-fold DNA-binding domains

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7 January 2021

The Drosophila segmentation gene runt acts as a position-specific numerator element necessary for the uniform expression of the sex-determining gene Sex-lethal

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7 January 2021

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

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7 January 2021

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

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7 January 2021

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

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7 January 2021

PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients

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7 January 2021

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations

1 reference

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7 January 2021

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

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7 January 2021

Point mutations of the RUNx1/AML1 gene in sporadic and familial myeloid leukemias

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https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

New mechanisms of AML1 gene alteration in hematological malignancies

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7 January 2021

SHOX haploinsufficiency and overdosage: impact of gonadal function status.

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

Functional mutagenesis of AML1/RUNX1 and PEBP2 beta/CBF beta define distinct, non-overlapping sites for DNA recognition and heterodimerization by the Runt domain

1 reference

https://api.crossref.org/works/10.1016%2FS1079-9796%2803%2900020-2

7 January 2021

Identifiers

DOI

1 reference

21 May 2018

PubMed ID

12732182

1 reference

21 May 2018