PubMed · 9848795
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M J Dillon, C D Goonasekera. 1998. Reflux nephropathy.. https://doi.org/10.1681/asn.v9122377
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Nijmegen breakage syndrome, a chromosomal instability disorder, is characterized in part by cellular hypersensitivity to ionizing radiation. The NBS1 gene product, p95 (NBS1 or nibrin) forms a complex with Rad50 and Mre11. Cells deficient in the formation of this complex are defective in DNA double-strand break repair, cell cycle checkpoint control, and telomere length maintenance. How the NBS1 complex is involved in telomere length maintenance remains unclear. Here we show that the C-terminal region of NBS1 interacts directly with a telomere repeat binding factor, TRF1, by both yeast two-hybrid and in vivo DNA-coimmunoprecipitation assays. NBS1 and Mre11 colocalize with TRF1 at promyelocytic leukemia (PML) nuclear bodies in immortalized telomerase-negative cell lines, but rarely in telomerase-positive cell lines. The translocation of NBS1 to PML bodies occurs specifically during late S to G(2) phases of the cell cycle and coincides with active DNA synthesis in these NBS1-containing PML bodies. These results suggest that NBS1 may be involved in alternative lengthening of telomeres in telomerase-negative immortalized cells.
The characteristic of duplicated exstrophy is the presence of a patch of exstrophic bladder mucosa in the infraumbilical region with a low-set umbilicus, in addition to the normal bladder. Musculoskeletal defects, diastasis pubis, and rectus abdominis can also be found in these patients. We report the first case of a female twin baby with appearance of a low-set umbilicus and diastasis pubis associated with a pubic sinus. The external genitalia and urinary continence were normal. Duplicated exstrophic mucosal remnant was excised, and the histopathologic study of the specimen confirmed urothelium.
We report on two sisters with facial anomalies, protein-losing enteropathy, and intestinal lymphangiectasia consistent with the diagnosis of Hennekam syndrome. Both patients had a number of other anomalies not previously described in this autosomal recessive disorder, i.e., primary hypothyroidism, hypertrophic pyloric stenosis, and an early fatal outcome. These cases support the autosomal recessive transmission and the expansion of the phenotype of the Hennekam syndrome.