Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

scientific article published on 19 December 2013

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.AJHG.2013.11.009
P932PMC publication ID3882735
P698PubMed publication ID24360809
P5875ResearchGate publication ID259447627

P50authorJuha KereQ11867366
Robert A. CornellQ41520063
Youssef A. KousaQ42819446
Lina Basel-VanagaiteQ47504993
Per UnnebergQ74197738
Elizabeth LeslieQ84145170
Jorma RautioQ116701167
Agneta KarstenQ130283731
P2093author name stringJeffrey C Murray
Brian C Schutte
Bogi Andersen
Martine Dunnwald
William Gordon
Måns Magnusson
Ingegerd Fransson
Brian A Lentz
Marie Pegelow
Thomas Svensson
Myriam Peyrard-Janvid
Tiffany L Smith
Hannele K Koillinen
P2860cites workMutations in IRF6 cause Van der Woude and popliteal pterygium syndromesQ24600400
A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Q24629476
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palateQ24635640
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesQ24644530
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 syndromeQ24645286
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)Q24675845
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switchQ28268504
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palateQ28277730
The Grainyhead-like epithelial transactivator Get-1/Grhl3 regulates epidermal terminal differentiation and interacts functionally with LMO4Q28505730
p63 is the molecular switch for initiation of an epithelial stratification programQ28512876
A homolog of Drosophila grainy head is essential for epidermal integrity in miceQ28585220
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk lociQ28943468
Fast and accurate long-read alignment with Burrows-Wheeler transformQ29547193
A framework for variation discovery and genotyping using next-generation DNA sequencing dataQ29547262
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect PredictorQ29614870
High-resolution in situ hybridization to whole-mount zebrafish embryosQ29617529
Maternal Interferon Regulatory Factor 6 is required for the differentiation of primary superficial epithelia in Danio and Xenopus embryosQ30488639
Developmental factor IRF6 exhibits tumor suppressor activity in squamous cell carcinomasQ31814759
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.Q34100631
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databasesQ37045153
The IRF family transcription factors in immunity and oncogenesisQ37096072
Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence.Q37239895
Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3.Q41919357
An epidermal barrier wound repair pathway in Drosophila is mediated by grainy headQ42653591
Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.Q45341372
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndromeQ46701559
Grainyhead-like 3, a transcription factor identified in a microarray screen, promotes the specification of the superficial layer of the embryonic epidermis.Q48546533
Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome.Q52036101
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.Q52125476
A reporter transgene based on a human keratin 6 gene promoter is specifically expressed in the periderm of mouse embryos.Q52143401
Genetic analysis in families with van der Woude syndrome.Q52872411
T helper 1 response against Leishmania major in pregnant C57BL/6 mice increases implantation failure and fetal resorptions. Correlation with increased IFN-gamma and TNF and reduced IL-10 production by placental cellsQ70844109
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectVan der Woude syndromeQ2033532
P304page(s)23-32
P577publication date2013-12-19
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleDominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development
P478volume94

Reverse relations

cites work (P2860)
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