gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 27 Feb 2015.

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)
Sponsored links
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
Involvement of genetic variants associated with primary open-angle glaucoma in pathogenic mechanisms and family history of glaucoma.
New
Tsukahara et al., Japan. In Am J Ophthalmol, 31 Mar 2015
METHODS: Japanese patients with NTG (n = 213) and HTG (n = 212) and 191 control subjects were genotyped for 5 non-IOP-related genetic variants predisposing to POAG near the SRBD1, ELOVL5, CDKN2B/CDKN2B-AS1, SIX1/SIX6, and ATOH7 genes.
Genetic variants associated with different risks for high tension glaucoma and normal tension glaucoma in a Chinese population.
New
Sun et al., Shanghai, China. In Invest Ophthalmol Vis Sci, 24 Mar 2015
13 previously reported single nucleotide polymorphisms (SNPs) located at 4 gene regions (TMCO1, CDKN2B-AS1, ATOH7 and SIX1/SIX6) were genotyped.
Retinal pigment epithelial cells display specific transcriptional responses upon TNF-α stimulation.
New
Dik et al., Rotterdam, Netherlands. In Br J Ophthalmol, 13 Mar 2015
Among the downregulated genes were transcription factors implicated in ocular development (SIX3, PAX6) and modulation of p53-mediated apoptosis (CITED2).
Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.
New
Wong et al., Singapore, Singapore. In Invest Ophthalmol Vis Sci, 31 Jan 2015
PURPOSE: Recently the common SIX6 missense variant rs33912345 was found to be highly associated with glaucoma.
The Genetics of POAG in Black South Africans: A Candidate Gene Association Study.
New
Ramsay et al., Johannesburg, South Africa. In Sci Rep, Dec 2014
No association with POAG was identified with tagging SNPs in TMCO1, CAV1/CAV2, CYP1B1, COL1A2, COL5A1, CDKN2B/CDKN2BAS-1, SIX1/SIX6 or the chromosome 2p16 regions and there were no associations with CCT or VCDR.
Genetics of primary open angle glaucoma.
Review
Araie et al., Tokyo, Japan. In Jpn J Ophthalmol, 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
Arendt et al., Heidelberg, Germany. In Curr Opin Neurobiol, 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.
Impact
Hammond et al., Rotterdam, Netherlands. In Nat Genet, 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).
share on facebooktweetadd +1mail to friends