(Q36919863)

17 August 2017

A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation (English)

1 reference

genome-wide association study

17 August 2017

0 references

author

Rodrigo Barquera Lozano

Rodrigo Barquera Lozano

9

0 references

Carla Gallo

Carla Gallo

19

0 references

Lavinia Schuler-Faccini

Lavinia Schuler-Faccini

21

0 references

David J. Balding

David Balding

31

0 references

Juan Camilo Chacón-Duque

Juan Camilo Chacón-Duque

5

0 references

Javier Rosique

26

Javier Rosique

0 references

Francisco Mauro Salzano

22

Francisco M Salzano

1 reference

17 August 2017

14

Virginia Ramallo

1 reference

17 August 2017

6

Victor Acuña-Alonzo

1 reference

17 August 2017

11

Jorge Gómez-Valdés

1 reference

17 August 2017

7

Claudia Jaramillo

1 reference

17 August 2017

Caio C Silva de Cerqueira

15

Caio C Silva de Cerqueira

1 reference

17 August 2017

1

Kaustubh Adhikari

1 reference

17 August 2017

10

Gastón Macín Pérez

1 reference

17 August 2017

Hugo Villamil-Ramírez

12

Hugo Villamil-Ramírez

1 reference

17 August 2017

Samuel Canizales-Quinteros

24

Samuel Canizales-Quinteros

1 reference

17 August 2017

18

Vanessa Granja

1 reference

17 August 2017

Macarena Fuentes-Guajardo

2

1 reference

17 August 2017

Mirsha Quinto-Sánchez

3

1 reference

17 August 2017

Javier Mendoza-Revilla

4

1 reference

17 August 2017

William Arias

8

1 reference

17 August 2017

Tábita Hunemeier

13

1 reference

17 August 2017

Malena Hurtado

16

1 reference

17 August 2017

Valeria Villegas

17

1 reference

17 August 2017

Giovanni Poletti

20

1 reference

17 August 2017

Maria-Cátira Bortolini

23

1 reference

17 August 2017

Michael Cheeseman

25

1 reference

17 August 2017

Gabriel Bedoya

27

1 reference

17 August 2017

Francisco Rothhammer

28

1 reference

17 August 2017

Denis Headon

29

1 reference

17 August 2017

Rolando González-José

30

1 reference

17 August 2017

Andrés Ruiz-Linares

32

1 reference

17 August 2017

language of work or name

English

0 references

publication date

19 May 2016

1 reference

17 August 2017

Nature Communications

1 reference

17 August 2017

7

1 reference

17 August 2017

11616

1 reference

Creative Commons Attribution 4.0 International

17 August 2017

start time

19 May 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ncomms11616

0 references

cites work

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29 September 2017

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A genome-wide association study identifies multiple loci for variation in human ear morphology

29 September 2017

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29 September 2017

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29 September 2017

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Anatomical networks reveal the musculoskeletal modularity of the human head

29 September 2017

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Fat-Dachsous signaling coordinates cartilage differentiation and polarity during craniofacial development

29 September 2017

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Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

29 September 2017

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Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals

29 September 2017

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Morphological and population genomic evidence that human faces have evolved to signal individual identity

29 September 2017

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A general approach for haplotype phasing across the full spectrum of relatedness

29 September 2017

1 reference

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Modeling 3D facial shape from DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis

29 September 2017

1 reference

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Heritability of Face Shape in Twins: A Preliminary Study using 3D Stereophotogrammetry and Geometric Morphometrics.

29 September 2017

1 reference

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The complete genome sequence of a Neanderthal from the Altai Mountains

29 September 2017

1 reference

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Detecting genetic association of common human facial morphological variation using high density 3D image registration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

The ectodysplasin pathway: from diseases to adaptations

29 September 2017

1 reference

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A review of hedgehog signaling in cranial bone development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Modeling recent human evolution in mice by expression of a selected EDAR variant

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Improved heritability estimation from genome-wide SNPs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

A genome-wide association study identifies five loci influencing facial morphology in Europeans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Reconstructing Native American population history

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

A genome-wide survey over the ChIP-on-chip identified androgen receptor-binding genomic regions identifies a novel prostate cancer susceptibility locus at 12q13.13.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Genetic determination of human facial morphology: links between cleft-lips and normal variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Subtle Morphological Changes in the Mandible of Tabby Mice Revealed by Micro-CT Imaging and Elliptical Fourier Quantification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

MorphoJ: an integrated software package for geometric morphometrics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

GCTA: a tool for genome-wide complex trait analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

LocusZoom: regional visualization of genome-wide association scan results

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

METAL: fast and efficient meta-analysis of genomewide association scans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Gli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Genotype imputation for genome-wide association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

A Draft Sequence of the Neandertal Genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Wnt modulators, SFRP-1, and SFRP-2 are expressed in osteoblasts and differentially regulate hematopoietic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Fast model-based estimation of ancestry in unrelated individuals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Heritability of human cranial dimensions: comparing the evolvability of different cranial regions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Intraclass correlations: uses in assessing rater reliability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

PLINK: a tool set for whole-genome association and population-based linkage analyses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

The developmental genetics of homology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Population structure and eigenanalysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Haploview: analysis and visualization of LD and haplotype maps

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Runx2 induces osteoblast and chondrocyte differentiation and enhances their migration by coupling with PI3K-Akt signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Interplays of Gli2 and Gli3 and their requirement in mediating Shh-dependent sclerotome induction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Facial asymmetry and genetic ancestry in Latin American admixed populations.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Statistical classification methods for estimating ancestry using morphoscopic traits.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Evolutionary insights into global patterns of human cranial diversity: population history, climatic and dietary effects

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

The adaptive variant EDARV370A is associated with straight hair in East Asians

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Metric and morphological assessment of facial features: a study on three European populations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

A new atlas for the evaluation of facial features: advantages, limits, and applicability

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Human cranial anatomy and the differential preservation of population history and climate signatures

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Maximum likelihood estimation of human craniometric heritabilities

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874031

Pax1 acts as a negative regulator of chondrocyte maturation

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27193062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS11616

1 reference

17 August 2017

0 references

1 reference

17 August 2017

1 reference