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This study revealed no clinical or pathologic distinctions between Wilms tumor (WT) with and without WTX mutation. This similarity lends support to the concept of a common tumorigenic pathway between WT with aberrant WTX and those without.
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Data suggest that the aberrant upregulation of miR-20a/miR-106a as the reason of Wilms tumor gene on the X chromosome (WTX) loss in colorectal cancer (CRC) both in vivo and in vitro.
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A novel heterozygous frameshift mutation in AMER1 was identified in a patient with osteopathia striata with cranial sclerosis.
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Losses of AMER1 by other mechanisms apart from mutations.
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A nonsense mutation (c.1045C>T, p.Glu349*) in the WTX gene.
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Data show that beta-arrestins regulate Wnt3a-induced low density lipoprotein receptor-related protein 6 (Lrp6) phosphorylation by the regulation of the membrane dynamics of Amer1.
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WTX inactivation occurs in a wider variety of tumor types than previously appreciated and point to shared pathogenic mechanisms between a subset of pediatric malignancies.
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Data indicate that osteopathia striata congenita with cranial sclerosis (OSCS) iscaused by germline deletions of in the X-linked gene WTX (FAM123B, AMER1).
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Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
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Stat3 inhibits WTX expression through up-regulation of micro RNA-370 in Wilms tumor.
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Osteopathia striata with cranial sclerosis or Horan-Beighton syndrome is a rare X-linked dominant inherited bone dysplasia. Genetic analysis allowed the identification of maternally transmitted heterozygous nonsense c.1057C>T (p.R353X) WTX mutation.
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WTX mutations occur early in Wilms' tumor development, but at a low proportion. There was no evidence that WTX is the main cause of Wilms' tumor.
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WTX modulates p53 function, in part through regulation of its activator CBP/p300.
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WTX and NRF2 compete for binding to KEAP1, and thus loss of WTX leads to rapid ubiquitination and degradation of NRF2 and a reduced response to cytotoxic insult.
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Amer1 exerts its negative regulatory role in Wnt signaling by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the plasma membrane.
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WTX mutations can arise both early and late in Wilms tumour development
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When gene expression changes mediated by wild-type WTX were compared with those affected by mutant WTX, WTX565 had a 55% overlap in differentially regulated genes, whereas WTX358 regulated only two genes affected by wild-type WTX.
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Mutations in the WTX-gene are associated with high-grade microsatellite instable colorectal cancers.
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inactivation of WTX appears to be a late event in tumorigenesis of nephroblastoma in a subgroup of nephroblastomas
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All investigated families diagnosed with Osteopathia striata with cranial sclerosis had WTX gene defects.