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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
The Fusarium oxysporum effector Six6 contributes to virulence and suppresses I-2-mediated cell death.
New
Takken et al., In Mol Plant Microbe Interact, Apr 2014
Most Six proteins are unique to F. oxysporum, but Six6 is an exception; a homolog is also present in two Colletotrichum spp.
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.
New
van Duijn et al., In Hum Mol Genet, Apr 2014
Previously, genome-wide significant evidence for the association of rs10483727 in SIX1-SIX6 locus with VCDR and subsequent POAG was found.
Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.
New
Martínez et al., Madrid, Spain. In Am J Med Genet A, Mar 2014
The 6.5 Mb deletion contains 27 genes, including three genes of the SIX family: SIX1, SIX4, and SIX6.
Genetics of primary open angle glaucoma.
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.
Larval body patterning and apical organs are conserved in animal evolution.
New
Arendt et al., Heidelberg, Germany. In Bmc Biol, Dec 2013
We refer to this Wnt-sensitive, six3- and foxq2-expressing part of the episphere as the 'apical plate'.
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.
Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.
Review
Ribeiro et al., São Paulo, Brazil. In Am J Med Genet C Semin Med Genet, 2010
The sample included patients without detected mutations in some HPE determinant genes such as SHH, GLI2, SIX3, TGIF, and PTCH, as well as the photographic documentation of the previously reported patients in our Center.
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
Review
Muenke et al., Bethesda, United States. In Am J Med Genet C Semin Med Genet, 2010
This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g., Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g., SHH, ZIC2 and SIX3).
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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