Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
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Before It Gets Started: Regulating Translation at the 5' UTR.Medical sequencing of candidate genes for nonsyndromic cleft lip and palateExome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locusInterferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent mannerMammary serine protease inhibitor (Maspin) binds directly to interferon regulatory factor 6: identification of a novel serpin partnershipStrong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.Cleft lip and palate: understanding genetic and environmental influencesAssociation between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populationsMonozygotic twins with variable expression of Van der Woude syndromeIKKalpha, a critical regulator of epidermal differentiation and a suppressor of skin cancerCandidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for cleftsPrevalence 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 syndromeA genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lipFOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palateMissense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humansAbnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palateThe IRF family, revisitedContributions of PTCH gene variants to isolated cleft lip and palateVariations in genome-wide gene expression in identical twins - a study of primary osteoblast-like culture from female twins discordant for osteoporosisEpidemiology, Etiology, and Treatment of Isolated Cleft PalatePalatogenesis and cutaneous repair: A two-headed coinVATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysisAccelerated wound closure in vitro by fibroblasts from a subgroup of cleft lip/palate patients: role of transforming growth factor-αGene expression regulation by upstream open reading frames and human diseaseTooth agenesis and orofacial clefting: genetic brothers in arms?New insights into craniofacial malformationsIrf6 is a key determinant of the keratinocyte proliferation-differentiation switchGenetic mosaics and the germ line lineageCell-autonomous and non-cell-autonomous roles for IRF6 during development of the tongueForward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cellsA specific requirement for PDGF-C in palate formation and PDGFR-alpha signalingMultidisciplinary approach to genomics research in Africa: the AfriCRAN modelSystematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Maternal Interferon Regulatory Factor 6 is required for the differentiation of primary superficial epithelia in Danio and Xenopus embryosFine tuning of craniofacial morphology by distant-acting enhancersAvian facial morphogenesis is regulated by c-Jun N-terminal kinase/planar cell polarity (JNK/PCP) wingless-related (WNT) signaling.
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P2860
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
description
2002 nî lūn-bûn
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2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@ast
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@en
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@nl
type
label
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@ast
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@en
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@nl
prefLabel
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@ast
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@en
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@nl
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P2860
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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
@en
P2093
Achim Sander
Alexandra S Knight
Andrew C Lidral
Arthur S Aylsworth
Barbara R Pober
Brian C Schutte
Bryan C Bjork
Claude Houdayer
Consuelo Valencia
Danilo Moretti-Ferreira
P2860
P2888
P304
P3181
P356
10.1038/NG985
P407
P50
P577
2002-09-03T00:00:00Z
P5875
P6179
1009652829