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Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only

Human molecular genetics, 2017-02, Vol.26 (4), p.829-842

2017

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Long-range enhancers regulating Myc expression are required for normal facial morphogenesis

Nature genetics, 2014-07, Vol.46 (7), p.753-758

2014

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Development of the upper lip: Morphogenetic and molecular mechanisms

Developmental dynamics, 2006-05, Vol.235 (5), p.1152-1166

2006

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Wnt signaling in orofacial clefts: crosstalk, pathogenesis and models

Disease models & mechanisms, 2019-02, Vol.12 (2)

2019

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Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1

Genetics in medicine, 2017-09, Vol.19 (9), p.1013-1021

2017

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Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis

The Journal of clinical investigation, 2014-04, Vol.124 (4), p.1660-1671

2014

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Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate

PloS one, 2015-03, Vol.10 (3), p.e0120517

2015

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Wnt9b-dependent FGF signaling is crucial for outgrowth of the nasal and maxillary processes during upper jaw and lip development

Development (Cambridge), 2012-05, Vol.139 (10), p.1821-1830

2012

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RERE deficiency contributes to the development of orofacial clefts in humans and mice

Human molecular genetics, 2021-05, Vol.30 (7), p.595-602

2021

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ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome

Human molecular genetics, 2019-12, Vol.28 (24), p.4053-4066

2019

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A Conserved Pbx-Wnt-p63-Irf6 Regulatory Module Controls Face Morphogenesis by Promoting Epithelial Apoptosis

Developmental cell, 2011-10, Vol.21 (4), p.627-641

2011

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Lrp6-mediated canonical Wnt signaling is required for lip formation and fusion

Development (Cambridge), 2009-09, Vol.136 (18), p.3161-3171

2009

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Rare earth elements in umbilical cord and risk for orofacial clefts

Ecotoxicology and environmental safety, 2021-01, Vol.207, p.111284, Article 111284

2021

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Impaired FGF signaling contributes to cleft lip and palate

Proceedings of the National Academy of Sciences - PNAS, 2007-03, Vol.104 (11), p.4512-4517

2007

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A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

European journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1113-1120

2019

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Peters Plus Syndrome Mutations Disrupt a Noncanonical ER Quality-Control Mechanism

Current biology, 2015-02, Vol.25 (3), p.286-295

2015

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Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate

Human molecular genetics, 2016-02, Vol.25 (4), p.766-776

2016

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Allele-specific transcription factor binding in a cellular model of orofacial clefting

Scientific reports, 2022-02, Vol.12 (1), p.1807-10, Article 1807

2022

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Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development

Scientific reports, 2016-12, Vol.6 (1), p.38398-38398, Article 38398

2016

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A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes

Cell death and differentiation, 2015-06, Vol.22 (6), p.1012-1024

2015

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Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation

BioEssays, 2016-05, Vol.38 (5), p.427-439

2016

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Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate

PloS one, 2012-09, Vol.7 (9), p.e45441-e45441

2012

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Stage specific requirement of platelet-derived growth factor receptor-α in embryonic development

PloS one, 2017-09, Vol.12 (9), p.e0184473-e0184473

2017

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Patched1 is required in neural crest cells for the prevention of orofacial clefts

Human molecular genetics, 2013-12, Vol.22 (24), p.5026-5035

2013

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APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations

Proceedings of the National Academy of Sciences - PNAS, 2013-02, Vol.110 (6), p.2157

2013

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Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only

Long-range enhancers regulating Myc expression are required for normal facial morphogenesis

Development of the upper lip: Morphogenetic and molecular mechanisms

Wnt signaling in orofacial clefts: crosstalk, pathogenesis and models

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1

Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis

Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate

Wnt9b-dependent FGF signaling is crucial for outgrowth of the nasal and maxillary processes during upper jaw and lip development

RERE deficiency contributes to the development of orofacial clefts in humans and mice

ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome

A Conserved Pbx-Wnt-p63-Irf6 Regulatory Module Controls Face Morphogenesis by Promoting Epithelial Apoptosis

Lrp6-mediated canonical Wnt signaling is required for lip formation and fusion

Rare earth elements in umbilical cord and risk for orofacial clefts

Impaired FGF signaling contributes to cleft lip and palate

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Peters Plus Syndrome Mutations Disrupt a Noncanonical ER Quality-Control Mechanism

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate

Allele-specific transcription factor binding in a cellular model of orofacial clefting

Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development

A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes

Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation

Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate

Stage specific requirement of platelet-derived growth factor receptor-α in embryonic development

Patched1 is required in neural crest cells for the prevention of orofacial clefts

APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations

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