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Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour
TLDR
The IGF2 gene is expressed from the paternal allele in human fetal tissue, but that in Wilms' tumour expression can occur biallelically, providing the first evidence that relaxation of imprinting may play a role in the onset of disease.
A PANorama of PAX genes in cancer and development
TLDR
The role of Pax family members during embryogenesis, and their contribution to tumorigenesis when subverted are examined.
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
TLDR
An FGFR2 mutation in the conserved region of the immunoglobulin Illc domain in the Jackson-Weiss syndrome family is reported, and in four of 12 Crouzon syndrome cases, two new mutations are identified and two previously described mutations are found.
Conjugate for efficient delivery of short interfering RNA (siRNA) into mammalian cells
TLDR
Thiol‐containing siRNAs corresponding to luciferase, or green fluorescent protein (GFP) transgenes, were synthesized and conjugated to penetratin or transportan via a disulfide bond that is labile in the reducing environment of the cytoplasm.
Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival
TLDR
The pattern and requirement for PAX gene expression was identified in tumor cell lines, including lymphoma, breast, ovarian, lung, and colon cancer, and the PAX2 gene was frequently expressed in a panel of 406 common primary tumor tissues, suggesting that PAX genes are regularly expressed in cancer.
Expression of the PAX2 gene in human fetal kidney and Wilms' tumor.
TLDR
In fetal kidney, PAX2 expression rapidly attenuates following the initial differentiation, but no evidence of attenuation was found in Wilms' tumors, and this pattern of expression suggests that PAX2 may have a role in differentiation of tissues in the kidney.
Biallelic DICER1 mutations occur in Wilms tumours
TLDR
This study has demonstrated that a subset of WTs exhibits two ‘hits’ in DICER1, suggesting that these mutations could be key events in the pathogenesis of these tumours.
A third Wilms' tumor locus on chromosome 16q.
TLDR
Data indicate that losses of both chromosome 11p and 16q alleles are nonrandom events and suggest that 16q is the location of a third tumor suppressor gene underlying Wilms' tumorigenesis.
Genomic structure of the human PAX2 gene.
TLDR
The complete structure of the human PAX2 gene was determined, which showed that it was composed of 12 exons spanning approximately 70 kb, and two alternatively spliced exons and a dinuclotide repeat polymorphism were determined in PAX2.
Differential regulation of the human Wilms tumour suppressor gene (WT1) promoter by two isoforms of PAX2
TLDR
Findings suggest that PAX2 is a tissue-specific modulator of WT1 expression, and is involved in cell growth control via WT1.
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