(Q38858036)

7 September 2017

1 reference

title

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation (English)

1 reference

7 September 2017

cleidocranial dysplasia

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27272193%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

A Jaruga

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27272193%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

E Hordyjewska

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27272193%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

G Kandzierski

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27272193%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

publication date

6 June 2016

1 reference

7 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27272193%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27272193%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27272193%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

393-402

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27272193%20AND%20SRC:MED&resulttype=core&format=json

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

8 June 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Causal relationship between the loss of RUNX3 expression and gastric cancer

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Conservation and expression of an alternative 3' exon of Runx2 encoding a novel proline-rich C-terminal domain

21 January 2018

1 reference

Two of four alternatively spliced isoforms of RUNX2 control osteocalcin gene expression in human osteoblast cells

21 January 2018

1 reference

Selective deficiency of the "bone-related" Runx2-II unexpectedly preserves osteoblast-mediated skeletogenesis.

21 January 2018

1 reference

Proviral insertions induce the expression of bone-specific isoforms of PEBP2alphaA (CBFA1): evidence for a new myc collaborating oncogene

21 January 2018

1 reference

Characterization of the upstream mouse Cbfa1/Runx2 promoter

21 January 2018

1 reference

Differential regulation of the two principal Runx2/Cbfa1 n-terminal isoforms in response to bone morphogenetic protein-2 during development of the osteoblast phenotype.

21 January 2018

1 reference

Analysis of the Runx2 promoter in osseous and non-osseous cells and identification of HIF2A as a potent transcription activator.

21 January 2018

1 reference

Runx2 protein expression utilizes the Runx2 P1 promoter to establish osteoprogenitor cell number for normal bone formation

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

1 reference

Structure and regulated expression of mammalian RUNX genes

21 January 2018

1 reference

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations

21 January 2018

1 reference

Differential expression patterns of Runx2 isoforms in cranial suture morphogenesis

21 January 2018

1 reference

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

21 January 2018

1 reference

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

21 January 2018

1 reference

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

21 January 2018

1 reference

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

Dual pathways to endochondral osteoblasts: a novel chondrocyte-derived osteoprogenitor cell identified in hypertrophic cartilage

21 January 2018

1 reference

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

21 January 2018

1 reference

Biochemical and biophysical properties of the core-binding factor alpha2 (AML1) DNA-binding domain.

21 January 2018

1 reference

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

21 January 2018

1 reference

Oncogenic cooperation between PI3K/Akt signaling and transcription factor Runx2 promotes the invasive properties of metastatic breast cancer cells

21 January 2018

1 reference

Runx2: Structure, function, and phosphorylation in osteoblast differentiation

21 January 2018

1 reference

Transcriptional repression by AML1 and LEF-1 is mediated by the TLE/Groucho corepressors

21 January 2018

1 reference

21 January 2018

1 reference

Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo

21 January 2018

1 reference

Regulation of the osteoblast-specific transcription factor, Runx2: responsiveness to multiple signal transduction pathways

21 January 2018

1 reference

BMP-2-induced Runx2 expression is mediated by Dlx5, and TGF-beta 1 opposes the BMP-2-induced osteoblast differentiation by suppression of Dlx5 expression

21 January 2018

1 reference

Regulation of bone and cartilage development by network between BMP signalling and transcription factors

21 January 2018

1 reference

Transcriptional control of chondrocyte fate and differentiation

21 January 2018

1 reference

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

21 January 2018

1 reference

Cbfa1 is a positive regulatory factor in chondrocyte maturation

21 January 2018

1 reference

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

21 January 2018

1 reference

Runx2 and Runx3 are essential for chondrocyte maturation, and Runx2 regulates limb growth through induction of Indian hedgehog

21 January 2018

1 reference

Runx2 expression and action in chondrocytes are regulated by retinoid signaling and parathyroid hormone-related peptide (PTHrP).

21 January 2018

1 reference

The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation

21 January 2018

1 reference

Transcriptional regulatory cascades in Runx2-dependent bone development

21 January 2018

1 reference

Cbfa1 isoforms exert functional differences in osteoblast differentiation

21 January 2018

1 reference

Spatio-temporal expression patterns of Runx2 isoforms in early skeletogenesis.

21 January 2018

1 reference

Runx2 control of organization, assembly and activity of the regulatory machinery for skeletal gene expression

21 January 2018

1 reference

Cbf beta regulates Runx2 function isoform-dependently in postnatal bone development.

21 January 2018

1 reference

The Runx2 osteogenic transcription factor regulates matrix metalloproteinase 9 in bone metastatic cancer cells and controls cell invasion

21 January 2018

1 reference

Runx2 association with progression of prostate cancer in patients: mechanisms mediating bone osteolysis and osteoblastic metastatic lesions

21 January 2018

1 reference

Runx2 activates PI3K/Akt signaling via mTORC2 regulation in invasive breast cancer cells

21 January 2018

1 reference

Regulatory roles of Runx2 in metastatic tumor and cancer cell interactions with bone.

21 January 2018

1 reference

A Runx2 threshold for the cleidocranial dysplasia phenotype

21 January 2018

1 reference

Overexpression of Cbfa1 in osteoblasts inhibits osteoblast maturation and causes osteopenia with multiple fractures

21 January 2018

1 reference

Duplicate zebrafish runx2 orthologues are expressed in developing skeletal elements

21 January 2018

1 reference

Osteogenic transcription factor Runx2 is a maternal determinant of dorsoventral patterning in zebrafish.

21 January 2018

1 reference

Functional and hierarchical interactions among zebrafish vox/vent homeobox genes

21 January 2018

1 reference

Runx2 is a novel regulator of mammary epithelial cell fate in development and breast cancer

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia.

21 January 2018

1 reference

Cleidocranial dysplasia: oral features and genetic analysis of 11 patients

21 January 2018

1 reference

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

21 January 2018

1 reference

Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

21 January 2018

1 reference

Novel RUNX2 frameshift mutations in Chinese patients with cleidocranial dysplasia.

21 January 2018

1 reference

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

21 January 2018

1 reference

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.

21 January 2018

1 reference

Novel complex disease allele mutations in cleidocranial dysplasia patients.

21 January 2018

1 reference

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

21 January 2018

1 reference

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

21 January 2018

1 reference

Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia

21 January 2018

1 reference

RUNX2 analysis of Danish cleidocranial dysplasia families

21 January 2018

1 reference

RUNX2 mutations in cleidocranial dysplasia patients.

21 January 2018

1 reference

Runx2 and dental development

21 January 2018

1 reference

RUNX2 mutations in cleidocranial dysplasia

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12812

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27272193%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference