(Q24645962)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P (English)

1 reference

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18 January 2020

9

1 reference

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18 January 2020

José Mauro Granjeiro

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

2

Mary L Marazita

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Sun J Choi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

P Suzanne Hart

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Pawel P Sulima

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

L Leigh Field

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Toby Goldstein McHenry

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Manika Govil

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Margaret E Cooper

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Renato Menezes

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Somnya Narayanan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Maria Adela Mansilla

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Alexandre R Vieira

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Andrew C Lidral

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Jeffrey C Murray

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Thomas C Hart

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

English

0 references

publication date

17 December 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

18 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

774-784

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

PDGF-C is a new protease-activated ligand for the PDGF alpha-receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

PDGF signaling specificity is mediated through multiple immediate early genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

SUMO1 haploinsufficiency leads to cleft lip and palate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

MicroRNA Mirn140 modulates Pdgf signaling during palatogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Epidemiology underpinning research in the aetiology of orofacial clefts.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Nuclear localisation of endogenous SUMO-1-modified PDGF-C in human thyroid tissue and cell lines

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Structural and functional specificities of PDGF-C and PDGF-D, the novel members of the platelet-derived growth factors family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Orofacial clefting: recent insights into a complex trait

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Regulation of fibrogenic/fibrolytic genes by platelet-derived growth factor C, a novel growth factor, in human dermal fibroblasts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Fibroblast growth factor-2 induction of platelet-derived growth factor-C chain transcription in vascular smooth muscle cells is ERK-dependent but not JNK-dependent and mediated by Egr-1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Cleft palate: players, pathways, and pursuits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Roles of PDGF in animal development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Developmental roles of platelet-derived growth factors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

EGR-1 enhances tumor growth and modulates the effect of the Wilms' tumor 1 gene products on tumorigenicity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Identification of a cell type-specific enhancer in the distal 5'-region of the platelet-derived growth factor A-chain gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

A chromosomal deletion map of human malformations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Interplay of Sp1 and Egr-1 in the proximal platelet-derived growth factor A-chain promoter in cultured vascular endothelial cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Defining subphenotypes for oral clefts based on dental development.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

AML-1A and AML-1B regulation of MIP-1alpha expression in multiple myeloma.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.

19 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.245

Candidate genes for oral-facial clefts in Guatemalan families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.245

The family based association test method: strategies for studying general genotype--phenotype associations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.245

Generation of conditional knockout alleles for PDGF-C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.245

Identification and validation of PDGF transcriptional targets by microarray-coupled gene-trap mutagenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.245

Platelet-derived growth factor A (pdgf-a) expression during zebrafish embryonic development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.245

Angiotensin II induction of PDGF-C expression is mediated by AT1 receptor-dependent Egr-1 transactivation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.245

AliBaba2: context specific identification of transcription factor binding sites.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2788748

Unravelling the complex genetics of cleft lip in the mouse model

28 November 2018

1 reference

12 December 2020

Possible localization of a major gene for cleft lip and palate to 4q

1 reference

12 December 2020

PDGF-C participates in branchial arch morphogenesis and is down-regulated by retinoic acid

1 reference

12 December 2020

PDGF-C controls proliferation and is down-regulated by retinoic acid in mouse embryonic palatal mesenchymal cells

1 reference

12 December 2020

Platelet-derived growth factor C plays a role in the branchial arch malformations induced by retinoic acid

1 reference

12 December 2020

[Association between nonsyndromic cleft lip/palate and microsatellite markers located in 4q]

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.245

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

18 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092777%20AND%20SRC:MED&resulttype=core&format=json