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SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly have been described.
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Results demonstrate that Six3 silence or loss in glioma is induced by its promoter hypermethylation and Six3 down-regulation contributes to proliferation and invasion of glioma. And this process is involved in activation of Wnt/beta-catenin pathway. Six3 play a suppressor role in the initiation and progression of human glioma and potentially serve as a target for the diagnosis and treatment of human glioma.
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SIX3 is a novel negative transcriptional regulator and acts as a tumor suppressor that directly represses the transcription of AURKA and AURKB in astrocytoma.
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SIX2, SIX3, and SIX4 were correlated with higher TNM stages in lung neoplasms
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High SIX3 expression is associated with Head and Neck Squamous Cell Carcinoma.
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SIX3 may play an important role as a novel suppressor in human lung cancer.
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Mutations in SIX3 is associated with holoprosencephaly.
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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.
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screened four known HPE genes in a Dutch cohort of 86 non-syndromic HPE index cases, including 53 family members. We detected 21 mutations (24.4%), 3 in SHH, 9 in ZIC2 and 9 in SIX3
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SIX3 acts directly upstream of SHH, and the SHH pathway is a key regulator of ventral forebrain patterning and mutations are associated with schizencephaly.
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A mutational screen was done to identify possible SIX3 mutations in a cohort of 149 (M:F 81:68) patients with hypopituitarism and/or midline abnormalities, falling within the spectrum of septo-optic dysplasia and holoprosencephaly.
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The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas.
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Six3 directly binds to geminin
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Seven novel SIX3 mutations found in a cohort of Holoprosencephaly patinets.
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different SIX3 mutations in HPE2 may affect different signaling pathways, and that one of these pathways may involve the nuclear receptor NOR1
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Occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation.
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Upregulation of Six3 expression in single progenitor cells of the embryonic telencephalon keeps them in an undifferentiated state; Six3 overexpression in mammalian brain depends strictly on the integrity of its DNA-binding domain.
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role for the MTA1 as an upstream modifier of Six3 and indicate that Six3 is a direct stimulator of rhodopsin expression.
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89% of putative deleterious human SIX3 mutations are significant loss-of-function alleles; a systematic comparison of bioactivities of mutant six3 proteins is demonstrated that confirms a role for six3 in causation of holoprosencephaly.
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These data suggest a direct link between Six3 and Shh regulation during normal forebrain development and in the pathogenesis of holoprosencephaly.
