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SIX homeobox 3

Six3, Six6
This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009] (from NCBI)
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Top mentioned proteins: Shh, TGIF, ZIC2, CAN, HAD
Papers using Six3 antibodies
Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.
Supplier
Linden Rafael, In PLoS ONE, 1978
... Homozygous HB (lox/lox) mice (C57BL/6J) were bred with Six3 promoter driven by Cre-recombinase transgenic mice (C57BL/6-) ...
Papers on Six3
Distinct evolutionary rate in the eye field transcription factors found by estimation of ancestral protein structure.
New
Ogura et al., Tokyo, Japan. In Gene, 06 Nov 2014
Amongst the different types of EFTFs, we selected otx2, tbx3, rx1, pax6, six3/6, lhx2 and nr2e1 because they are highly conserved in bilaterian animals.
An anterior medial cell population with an apical-organ-like transcriptional profile that pioneers the central nervous system in the centipede Strigamia maritima.
New
Akam et al., Cambridge, United Kingdom. In Dev Biol, 26 Oct 2014
UNLABELLED: The apical plate of primary marine larvae is characterized by a common set of transcription factors comprising six3, rx, hbn, nk2.1 and FoxQ2.
Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study.
New
Craig et al., Adelaide, Australia. In Am J Ophthalmol, 18 Oct 2014
MAIN OUTCOME MEASURE: Incident OAG RESULTS: Two loci also known to be associated with cup:disc ratio as well as OAG (9p21 near CDKN2B-AS1 and SIX1/SIX6) were both significantly associated with incident OAG in the Blue Mountains Eye Study cohort (p=0.006 and 0.004 respectively).
Xenopus mutant reveals necessity of rax for specifying the eye field which otherwise forms tissue with telencephalic and diencephalic character.
New
Grainger et al., Charlottesville, United States. In Dev Biol, 12 Oct 2014
pax6, lhx2 and six6) are not dependent on rax activity through neurulation.
Whole genome DNA methylation signature of HER2-positive breast cancer.
New
Nilsson et al., Örebro, Sweden. In Epigenetics, Sep 2014
Within these genes, we observed an overrepresentation of homeobox family genes, including several genes that have not been previously reported in relation to cancer (DBX1, NKX2-6, SIX6).
Genetics of primary open angle glaucoma.
Review
New
Araie et al., Tokyo, Japan. In Jpn J Ophthalmol, Jan 2014
Several association studies have been conducted for candidate genes, and genome-wide association studies recently identified new susceptibility loci for POAG, namely, S1 RNA binding domain 1 region on chromosome 2p21, the caveolin 1 and caveolin 2 regions on 7q31, transmembrane and coiled-coil domain 1 region on 1q24, cyclin-dependent kinase inhibitor 2B antisense RNA on 9p21, the SIX1 and SIX6 regions on 14q24 and, possibly, the regulatory region of 8q22.
The bilaterian forebrain: an evolutionary chimaera.
Review
New
Arendt et al., Heidelberg, Germany. In Curr Opin Neurobiol, Dec 2013
Here, we review recent comparative neurodevelopmental evidence indicating that these centres evolved from separate condensations of neurons on opposite body sides ('apical nervous system' versus 'blastoporal nervous system') and that their developmental specification involved distinct regulatory networks (apical six3 and rx versus mediolateral nk and pax gene-dependent patterning).
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
New
Impact
Hammond et al., Rotterdam, Netherlands. In Nat Genet, Mar 2013
The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56).
Six3 cooperates with Hedgehog signaling to specify ventral telencephalon by promoting early expression of Foxg1a and repressing Wnt signaling.
GeneRIF
Inbal et al., Nashville, United States. In Development, 2012
data find that Six3 promotes ventral telencephalic fates through transient regulation of foxg1a expression and repression of the Wnt/beta-catenin pathway.
Dual transcriptional activities of SIX proteins define their roles in normal and ectopic eye development.
GeneRIF
Kumar et al., Bloomington, United States. In Development, 2012
Data suggest that during early phases of eye development, So and Optix function, in part, to repress the transcription of non-retinal selector genes, thereby allowing induction of the retina to proceed.
Six3 is required for ependymal cell maturation.
GeneRIF
Oliver et al., Memphis, United States. In Development, 2011
It was shown that Six3 is necessary for ependymal cell maturation during postnatal stages of brain development. In its absence, ependymal cells fail to suppress radial glia characteristics.
Eye development genes and known syndromes.
Review
Slavotinek, San Francisco, United States. In Mol Genet Metab, 2011
In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6.
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
GeneRIF
Odent et al., Rennes, France. In J Med Genet, 2011
There was a positive correlation between the severity of the brain malformation and facial features for SHH, SIX3, and TGIF, but no such correlation was found for ZIC2 mutations.
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
Impact
Cho et al., South Korea. In Nat Genet, 2011
(in C12orf51) for high-density lipoprotein cholesterol, 2p21 (near SIX2-SIX3) for fasting plasma glucose, 19q13.33 (in RPS11) and 6q22.33 (in RSPO3) for renal traits, and 12q24.11
Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.
Review
Bona et al., Novara, Italy. In Panminerva Med, 2010
Genetic causes are responsible for about 20% of cases: they are chromosomal abnormalities and gene mutations: up to date, nine genes (SHH, ZIC2, SIX3, TGIF, PATCHED1, TDGF1/CRIPTO, FAST1, GLI2 and DHCR) are definitely associated with HPE, but many others candidate gene are under investigation.
Efficient derivation of functional floor plate tissue from human embryonic stem cells.
Impact
Studer et al., New York City, United States. In Cell Stem Cell, 2010
hESC-derived FP tissue is shown to be of anterior SIX6+ character but is responsive to caudalizing factors suppressing SIX6 expression and inducing a shift in usage of region-specific SHH enhancers.
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).
Review
Odent et al., Rennes, France. In Am J Med Genet C Semin Med Genet, 2010
Since mutations in the four major genes (SHH, ZIC2, SIX3, and TGIF) have been identified in HPE patients, molecular study is performed routinely in nonsyndromic HPE.
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
Impact
Elledge et al., Philadelphia, United States. In Nat Genet, 2000
7); and SIX3 at 2p21 (ref.
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
Impact
Muenke et al., Philadelphia, United States. In Nat Genet, 1999
We describe here the isolation and characterization of the human homeobox-containing SIX3 gene from the HPE2 minimal critical region (MCR).
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