Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip (Q24650690)

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

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instance of

scholarly article

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title

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

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main subject

cleft lip

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based on heuristic

inferred from title

author

Mads Melbye

series ordinal

11

object named as

Mads Melbye

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Frederick E. Domann

object named as

Frederick E Domann

series ordinal

7

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Allen Wilcox

object named as

Allen J Wilcox

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14

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Kaare Christensen

object named as

Kaare Christensen

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9

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Peter Mossey

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Peter A Mossey

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17

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Michele Rubini

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Michele Rubini

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6

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Axel Visel

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Axel Visel

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3

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David FitzPatrick

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David R Fitzpatrick

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15

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Julian Little

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18

object named as

Julian Little

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Eric D. Green

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16

object named as

Eric D Green

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Regine P.M. Steegers-Theunissen

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19

object named as

Regine P Steegers-Theunissen

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Mary L. Marazita

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2

object named as

Mary L Marazita

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Len A. Pennacchio

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20

object named as

Len A Pennacchio

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Fedik Rahimov

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1

object named as

Fedik Rahimov

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Astanand Jugessur

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12

object named as

Astanand Jugessur

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author name string

Margaret E Cooper

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4

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Michael J Hitchler

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5

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Manika Govil

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8

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Camille Bille

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10

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Rolv T Lie

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13

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Brian C Schutte

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21

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Jeffrey C Murray

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22

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language of work or name

English

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publication date

November 2008

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published in

Nature Genetics

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volume

40

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issue

11

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page(s)

1341-7

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cites work

TFAP2A mutations result in branchio-oculo-facial syndrome

1 reference

stated in

PubMed Central

reference URL

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7 April 2017

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations

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PubMed Central

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7 April 2017

Impaired FGF signaling contributes to cleft lip and palate

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7 April 2017

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

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7 April 2017

Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population

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PubMed Central

reference URL

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7 April 2017

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

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7 April 2017

Variation in IRF6 contributes to nonsyndromic cleft lip and palate

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PubMed Central

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7 April 2017

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

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PubMed Central

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7 April 2017

Transcription factor AP-2 essential for cranial closure and craniofacial development

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7 April 2017

Comparative analyses of multi-species sequences from targeted genomic regions

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7 April 2017

Optical projection tomography as a tool for 3D microscopy and gene expression studies

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7 April 2017

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

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Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data

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28 September 2017

AP-2 participates in the transcriptional control of the amyloid precursor protein (APP) gene in oral squamous cell carcinoma

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PubMed Central

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28 September 2017

Epidemiology underpinning research in the aetiology of orofacial clefts.

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PubMed Central

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28 September 2017

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

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PubMed Central

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28 September 2017

Oral clefts and life style factors--a case-cohort study based on prospective Danish data

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PubMed Central

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28 September 2017

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population

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PubMed Central

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28 September 2017

Orofacial clefting: recent insights into a complex trait

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PubMed Central

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28 September 2017

In vivo characterization of a vertebrate ultraconserved enhancer

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PubMed Central

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28 September 2017

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

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PubMed Central

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28 September 2017

Identification and characterization of multi-species conserved sequences

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PubMed Central

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28 September 2017

MultiPipMaker and supporting tools: Alignments and analysis of multiple genomic DNA sequences

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28 September 2017

Methods for detection of parent-of-origin effects in genetic studies of case-parents triads

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28 September 2017

Parent's Occupation and Isolated Orofacial Clefts in Norway: A Population-based Case-control Study

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28 November 2018

In vitro assays fail to predict in vivo effects of regulatory polymorphisms

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28 November 2018

Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome.

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PubMed Central

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28 November 2018

Cleft Lip and Palate versus Cleft Lip Only: Are They Distinct Defects?

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PubMed Central

reference URL

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28 November 2018

Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium for Oral Clefts Genetics.

1 reference

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PubMed Central

reference URL

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28 November 2018

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

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PubMed Central

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28 November 2018

Identifiers

DOI

10.1038/NG.242

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3173706

Dimensions Publication ID

1036697941

0 references

OpenCitations bibliographic resource ID

3173706

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3173706

PMC publication ID

2691688

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3173706

PubMed publication ID

18836445

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3173706

ResearchGate publication ID

23300948

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