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Ventral anterior homeobox containing gene 1

Vax1
This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: LIP, BMP4, Otx2, SET, IRF6
Papers on Vax1
A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.
New
Gil-da-Silva-Lopes et al., Campinas, Brazil. In J Craniomaxillofac Surg, Jan 2016
RESULTS: Twenty-four SNPs in 16 genes were significantly associated with the etiology of NSCLP, including MSX1, SPRY1, MSX2, PRSS35, TFAP2A, SHH, VAX1, TBX10, WNT11, PAX9, BMP4, JAG2, AXIN2, DVL2, KIF7, and TCBE3.
An anterior medial cell population with an apical-organ-like transcriptional profile that pioneers the central nervous system in the centipede Strigamia maritima.
Akam et al., Cambridge, United Kingdom. In Dev Biol, 2015
Some also express markers of hypothalamic neurons, including otp, vtn and vax1.
Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.
Murray et al., Iowa City, United States. In Am J Med Genet A, 2014
Genome-wide association studies (GWAS) for nonsyndromic cleft lip with or without cleft palate (NSCL[P]) revealed significant association for common single nucleotide polymorphisms near genes involved in craniofacial development i.e., MAFB, PAX7, VAX1, ARHGAP29 (ABCA4 locus), and IRF6.
Heterozygous deletion of ventral anterior homeobox (vax1) causes subfertility in mice.
Mellon et al., Ann Arbor, United States. In Endocrinology, 2014
Here we identify the homeodomain transcription factor ventral anterior homeobox1 (Vax1) as a potential genetic contributor to polygenic IHH.
Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians.
Magee et al., Los Angeles, United States. In Am J Med Genet A, 2014
(VAX1), and 17q22 (NOG).
The genetic architecture of microphthalmia, anophthalmia and coloboma.
Review
FitzPatrick et al., Edinburgh, United Kingdom. In Eur J Med Genet, 2014
This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1.
Polymorphic variants in VAX1 gene (rs7078160) and BMP4 gene (rs762642) and the risk of non-syndromic orofacial clefts in the Polish population.
Znamirowska-Bajowska et al., Szczecin, Poland. In Med Wieku Rozwoj, 2013
AIM OF STUDY: The aim of this study was to investigate the contribution of reported candidate genes: VAX1 (rs7078160) and BMP4 (rs762642) to the risk of cleft lip with or without cleft palate in the Polish population.
Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).
Murray et al., Iowa City, United States. In Am J Med Genet A, 2013
To replicate two of these GWAS signals, we investigated the role of common and rare variants in the PAX7 and VAX1 genes.
Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate.
Coletta et al., Piracicaba, Brazil. In Bmc Med Genet, 2012
Previous association studies with populations from Europe and Asia have identified putative susceptibility markers for NSCL/P in fibroblast growth factor 12 (FGF12), vinculin (VCL), connexin 43 (CX43) and in a region close to the ventral anterior homeobox 1 (VAX1) gene.
Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
Ludwig et al., Bonn, Germany. In Birth Defects Res A Clin Mol Teratol, 2012
One gene at 10q25.3, the ventral anterior homeobox 1 (VAX1) gene, is considered a strong candidate gene for craniofacial malformations.
DNA methylation biomarkers for lung cancer.
Pfeifer et al., Duarte, United States. In Tumour Biol, 2012
Using sodium-bisulfite-based approaches, 12 CpG islands (associated with the BARHL2, EVX2, IRX2, MEIS1, MSX1, NR2E1, OC2, OSR1, OTX1, PAX6, TFAP2A, and ZNF577 genes) were confirmed to be methylated in 85% to 100% of the squamous cell carcinomas and 11 CpG islands (associated with the CHAD, DLX4, GRIK2, KCNG3, NR2E1, OSR1, OTX1, OTX2, PROX1, RUNX1, and VAX1 genes) were methylated in >80% of the adenocarcinomas.
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
GeneRIF
Schorderet et al., San Francisco, United States. In Hum Mutat, 2012
This is the first description of a patient with a VAX1 mutation and establishes VAX1 as a new causative gene for anophthalmia/microphthalmia (A/M) in humans.
RAX and anophthalmia in humans: evidence of brain anomalies.
Schorderet et al., Lausanne, Switzerland. In Mol Vis, 2011
No mutations were detected in orthodenticle homeobox 2 (OTX2), ventral anterior homeobox 1 (VAX1), or sex determining region Y-box 2 (SOX2).
Methylcap-seq reveals novel DNA methylation markers for the diagnosis and recurrence prediction of bladder cancer in a Chinese population.
Yu et al., Shanghai, China. In Plos One, 2011
The top 104 hypermethylated targets were reduced to eight genes (VAX1, KCNV1, ECEL1, TMEM26, TAL1, PROX1, SLC6A20, and LMX1A) after the urine DNA screening in a small sample size of 8 normal control and 18 BC subjects.
Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.
NigeriaCRAN Collaboration et al., In Cleft Palate Craniofac J, 2011
SUBJECTS AND METHODS: DNA isolated from saliva from Nigerian probands was used for genotype association studies and direct sequencing of cleft candidate genes: MSX1 , IRF6 , FOXE1, FGFR1 , FGFR2 , BMP4 , MAFB, ABCA4 , PAX7, and VAX1 , and the chromosome 8q region.
Lack of the ventral anterior homeodomain transcription factor VAX1 leads to induction of a second pituitary.
GeneRIF
Arnheiter et al., Bethesda, United States. In Development, 2011
the absence of Vax1 causes the rostral oral ectoderm to form an ectopic fold that eventually develops into a separate second pituitary with all the pituitary cell types and neuronal fibers characteristic of the normal pituitary
Defective postnatal neurogenesis and disorganization of the rostral migratory stream in absence of the Vax1 homeobox gene.
GeneRIF
Bertuzzi et al., Milano, Italy. In J Neurosci, 2005
These data indicate that Vax1 is a potent regulator of subventricular zone organization and neural stem cell proliferation, with important consequences on postnatal neurogenesis.
Compromised generation of GABAergic interneurons in the brains of Vax1-/- mice.
GeneRIF
Bertuzzi et al., Segrate, Italy. In Development, 2004
Vax1 has a role in basal ganglia subventricular zone development
Hedgehog signalling maintains the optic stalk-retinal interface through the regulation of Vax gene activity.
GeneRIF
Wilson et al., London, United Kingdom. In Development, 2003
vax1 and vax2 are expressed in overlapping domains encompassing the ventral retina, optic stalks and preoptic area; Hh signals act downstream of the Nodal pathway to promote Vax gene expression.
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