Toward an orofacial gene regulatory network

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders

(2015) Elizabeth J. Leslie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions

(2015) Mei Qi Kwa et al.   CELLULAR SIGNALLING

Irf6-Related Gene Regulatory Network Involved in Palate and Lip Development

(2015) Jiewen Dai et al.   JOURNAL OF CRANIOFACIAL SURGERY

IRF6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate

(2015) S. Kerameddin et al.   JOURNAL OF DENTAL RESEARCH

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

(2014) W. D. Fakhouri et al.   HUMAN MOLECULAR GENETICS

Periderm prevents pathological epithelial adhesions during embryogenesis

(2014) Rebecca J. Richardson et al.   JOURNAL OF CLINICAL INVESTIGATION

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

(2013) Myriam Peyrard-Janvid et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Smad4-Irf6 genetic interaction and TGF -mediated IRF6 signaling cascade are crucial for palatal fusion in mice

(2013) J.-i. Iwata et al.   DEVELOPMENT

Exploring the effects of gene dosage on mandible shape in mice as a model for studying the genetic basis of natural variation

(2013) Louis Boell et al.   DEVELOPMENT GENES AND EVOLUTION

Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation–differentiation decision in epidermal progenitor cells

(2013) Sunjin Lee et al.   DEVELOPMENTAL BIOLOGY

Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain

(2013) Hong Li et al.   HUMAN MOLECULAR GENETICS

Cell-Autonomous and Non-Cell-Autonomous Roles for Irf6 during Development of the Tongue

(2013) Steven Goudy et al.   PLoS One

The role of Irf6 in tooth epithelial invagination

(2012) James Blackburn et al.   DEVELOPMENTAL BIOLOGY

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

(2012) Elizabeth J. Leslie et al.   GENETICS IN MEDICINE

Interferon Regulatory Factor 6 Promotes Differentiation of the Periderm by Activating Expression of Grainyhead-Like 3

(2012) Gabriel de la Garza et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Intra-amniotic Transient Transduction of the Periderm With a Viral Vector Encoding TGFβ3 Prevents Cleft Palate in Tgfβ3−/− Mouse Embryos

(2012) Chadwick Wu et al.   MOLECULAR THERAPY

Genome-wide analysis of p63 binding sites identifies AP-2 factors as co-regulators of epidermal differentiation

(2012) Simon S. McDade et al.   NUCLEIC ACIDS RESEARCH

Transforming Growth Factor Beta 3 Is Required for Excisional Wound Repair In Vivo

(2012) Mark Le et al.   PLoS One

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

(2011) Karen Mitchell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

(2011) Ersan Kalay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Monozygotic twins with variable expression of Van der Woude Syndrome

(2011) Rebekah Jobling et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IKKα represses a network of inflammation and proliferation pathways and elevates c-Myc antagonists and differentiation in a dose-dependent manner in the skin

(2011) B Liu et al.   CELL DEATH AND DIFFERENTIATION

De Novo Interstitial Deletion of 1q32.2–q32.3 Including the Entire IRF6 Gene in a Patient with Oral Cleft and Other Dysmorphic Features

(2011) I. Salahshourifar et al.   CYTOGENETIC AND GENOME RESEARCH

MCS9.7enhancer activity is highly, but not completely, associated with expression of Irf6 and p63

(2011) Walid D. Fakhouri et al.   DEVELOPMENTAL DYNAMICS

IRF6 is a mediator of Notch pro-differentiation and tumour suppressive function in keratinocytes

(2011) Gaetana Restivo et al.   EMBO JOURNAL

Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa

(2011) M Endo et al.   GENE THERAPY

Interferon Regulatory Factor 6 Is Necessary, but Not Sufficient, for Keratinocyte Differentiation

(2011) Leah C. Biggs et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Submucosal gland development in the human fetal trachea xenograft model: implications for fetal gene therapy

(2011) Sundeep G. Keswani et al.   JOURNAL OF PEDIATRIC SURGERY

A novel mutation in theIRF6gene associated with facial asymmetry in a family affected with Van der Woude Syndrome

(2011) Lorena Miñones-Suárez et al.   PEDIATRIC DERMATOLOGY

Current National Incidence, Trends, and Health Care Resource Utilization of Cleft Lip–Cleft Palate

(2011) Benjamin Basseri et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Developmental factor IRF6 exhibits tumor suppressor activity in squamous cell carcinomas

(2011) E. Botti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Mutational Landscape of Head and Neck Squamous Cell Carcinoma

(2011) N. Stransky et al.   SCIENCE

A novel role of IKKα in the mediation of UVB-induced G0/G1 cell cycle arrest response by suppressing Cyclin D1 expression

(2010) Lun Song et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Folate pathway and nonsyndromic cleft lip and palate

(2010) Susan H. Blanton et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Cleft Lip and Palate in Family Members of Cancer Survivors

(2010) E. Taioli et al.   CANCER INVESTIGATION

Cerebellum Structure Differences and Relationship to Speech in Boys and Girls with Nonsyndromic Cleft of the Lip and/or Palate

(2010) Amy L. Conrad et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Magnetic Resonance Imaging for Detection of Brain Abnormalities in Fetuses with Cleft Lip and/or Cleft Palate

(2010) Heather Rosen et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Phenotypic variation in the popliteal pterygium syndrome

(2010) D. Bixler et al.   CLINICAL GENETICS

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan

(2010) S Malik et al.   CLINICAL GENETICS

Temporal and spatial expression patterns for the tumor suppressor Maspin and its binding partner interferon regulatory factor 6 during breast development

(2010) Caleb M. Bailey et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

Improvement of the mdx mouse dystrophic phenotype by systemic in utero AAV8 delivery of a minidystrophin gene

(2010) B M Koppanati et al.   GENE THERAPY

Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate

(2010) Tao Wu et al.   HUMAN GENETICS

Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice

(2010) Helen A. Thomason et al.   JOURNAL OF CLINICAL INVESTIGATION

A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias

(2010) Francesca Moretti et al.   JOURNAL OF CLINICAL INVESTIGATION

Two Novel Mutations Affecting Splicing in the IRF6 Gene Associated With van der Woude Syndrome

(2010) Anna Paola Scioletti et al.   JOURNAL OF CRANIOFACIAL SURGERY

Wound Complications After Cleft Repair in Children With Van der Woude Syndrome

(2010) Jodi L.P. Jones et al.   JOURNAL OF CRANIOFACIAL SURGERY

Hyperactivity, impulsivity, and inattention in boys with cleft lip and palate: relationship to ventromedial prefrontal cortex morphology

(2010) Peggy Nopoulos et al.   Journal of Neurodevelopmental Disorders

Extending Multidisciplinary Management of Cleft Palate to the Developing World

(2010) Maxwell C. Furr et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

(2010) Terri H Beaty et al.   NATURE GENETICS

MutantCHUKand Severe Fetal Encasement Malformation

(2010) Jenni Lahtela et al.   NEW ENGLAND JOURNAL OF MEDICINE

Isolated soft tissue cleft lip: epidemiology and associated dental anomalies

(2010) D Aizenbud et al.   ORAL DISEASES

Three novel mutations of theIRF6gene with one associated with an unusual feature in Van der Woude syndrome

(2009) Patra Yeetong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuropsychological Functioning in Children with Non-Syndromic Cleft of the Lip and/or Palate

(2009) Amy Lynn Conrad et al.   CHILD NEUROPSYCHOLOGY

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

(2009) Renata L L Ferreira de Lima et al.   GENETICS IN MEDICINE

Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence

(2009) Rebecca J. Richardson et al.   HUMAN MOLECULAR GENETICS

Cleft Lip and Palate

(2009) Francesco Manna et al.   JOURNAL OF CRANIOFACIAL SURGERY

RIP4 Regulates Epidermal Differentiation and Cutaneous Inflammation

(2009) Ryan B. Rountree et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

(2009) Stefanie Birnbaum et al.   NATURE GENETICS

The impact of orofacial clefts on quality of life and healthcare use and costs

(2009) GL Wehby et al.   ORAL DISEASES

Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate

(2008) James L. Mills et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Maternal Interferon Regulatory Factor 6 is required for the differentiation of primary superficial epithelia in Danio and Xenopus embryos

(2008) Jaime L. Sabel et al.   DEVELOPMENTAL BIOLOGY

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

(2008) Hayley J. Little et al.   HUMAN MOLECULAR GENETICS

Interferon Regulatory Factor 6 Promotes Cell Cycle Arrest and Is Regulated by the Proteasome in a Cell Cycle-Dependent Manner

(2008) C. M. Bailey et al.   MOLECULAR AND CELLULAR BIOLOGY

Correction of ADAMTS13 Deficiency by In Utero Gene Transfer of Lentiviral Vector encoding ADAMTS13 Genes

(2008) Masami Niiya et al.   MOLECULAR THERAPY

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

(2008) Fedik Rahimov et al.   NATURE GENETICS

Insights into interferon regulatory factor activation from the crystal structure of dimeric IRF5

(2008) Weijun Chen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

IKK  is a critical coregulator of a Smad4-independent TGF -Smad2/3 signaling pathway that controls keratinocyte differentiation

(2008) P. Descargues et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA