Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases.
Authors:Ye L, Chang JC, Lin C, Sun X, Yu J, Kan YW,
Journal:Proc Natl Acad Sci U S A
PubMed ID:19482945
'The innovation of reprogramming somatic cells to induced pluripotent stem cells provides a possible new approach to treat beta-thalassemia and other genetic diseases such as sickle cell anemia. Induced pluripotent stem (iPS) cells can be made from these patients'' somatic cells and the mutation in the beta-globin gene corrected by ... More
Reactivation of XIST in normal fibroblasts and a somatic cell hybrid: abnormal localization of XIST RNA in hybrid cells.
'The XIST gene, expressed only from the inactive X chromosome, is a critical component of X inactivation. Although apparently unnecessary for maintenance of inactivation, XIST expression is thought to be sufficient for inactivation of genes in cis even when XIST is located abnormally on another chromosome. This repression appears to ... More
Specific tumour-associated methylation in normal human term placenta and first-trimester cytotrophoblasts.
Authors:Novakovic B, Rakyan V, Ng HK, Manuelpillai U, Dewi C, Wong NC, Morley R, Down T, Beck S, Craig JM, Saffery R,
Journal:Mol Hum Reprod
PubMed ID:18708652
'Human placentation displays many similarities with tumourigenesis, including rapid cell division, migration and invasion, overlapping gene expression profiles and escape from immune detection. Recent data have identified promoter methylation in the Ras association factor and adenomatous polyposis coli tumour suppressor genes as part of this process. However, the extent of ... More
Placenta-specific methylation of the vitamin D 24-hydroxylase gene: implications for feedback autoregulation of active vitamin D levels at the fetomaternal interface.
Authors:Novakovic B, Sibson M, Ng HK, Manuelpillai U, Rakyan V, Down T, Beck S, Fournier T, Evain-Brion D, Dimitriadis E, Craig JM, Morley R, Saffery R,
Journal:J Biol Chem
PubMed ID:19237542
'Plasma concentrations of biologically active vitamin D (1,25-(OH)(2)D) are tightly controlled via feedback regulation of renal 1alpha-hydroxylase (CYP27B1; positive) and 24-hydroxylase (CYP24A1; catabolic) enzymes. In pregnancy, this regulation is uncoupled, and 1,25-(OH)(2)D levels are significantly elevated, suggesting a role in pregnancy progression. Epigenetic regulation of CYP27B1 and CYP24A1 has previously ... More
Development of transgenic cloned pig models of skin inflammation by DNA transposon-directed ectopic expression of human ß1 and a2 integrin.
Authors:Staunstrup NH, Madsen J, Primo MN, Li J, Liu Y, Kragh PM, Li R, Schmidt M, Purup S, Dagnæs-Hansen F, Svensson L, Petersen TK, Callesen H, Bolund L, Mikkelsen JG,
Journal:PLoS One
PubMed ID:22590584
Integrins constitute a superfamily of transmembrane signaling receptors that play pivotal roles in cutaneous homeostasis by modulating cell growth and differentiation as well as inflammatory responses in the skin. Subrabasal expression of integrins a2 and/or ß1 entails hyperproliferation and aberrant differentiation of keratinocytes and leads to dermal and epidermal influx ... More