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We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor beta receptor in ten families with a newly described human phenotype that includes widespread perturbations in cardiovascular, craniofacial, neurocognitive and skeletal development. Despite evidence that receptors derived from selected mutated alleles cannot support TGFbeta signal propagation, cells derived from individuals heterozygous with respect to these mutations did not show altered kinetics of the acute phase response to administered ligand. Furthermore, tissues derived from affected individuals showed increased expression of both collagen and connective tissue growth factor, as well as nuclear enrichment of phosphorylated Smad2, indicative of increased TGFbeta signaling. These data definitively implicate perturbation of TG...
In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 18 patients (16 males and 2 females) with dysmorphic features were selected to perform FISH studies by using subtelomeric probes to discover cryptic terminal deletions or duplications, undetectable with standard banding techniques. In the 13 investigated patients, no abnormalities were found with a selected battery of subtelomeric probes. The results of cryptic chromosomal rearrangement studies are variable but the frequency of positive diagnostic findings seems to be lower than previously expected.
Stageverslag aanvullende opleiding in de cellulaire biotechnologie. Promotor: Prof. Claessens (U0015200-50753346) Co-promotor: Dr. Haelens (U0008335-50753346)
During the Palaeocene and Eocene Epochs (65.5-33.9 Ma) the Earth experienced the warmest conditions of the Cenozoic. This Palaeogene greenhouse episode is characterized by several short-lived negative carbon isotope (delta C-13) excursions, which are usually interpreted as transient warming events ('hyperthermals') as indicated by rising temperatures of surface and bottom waters, and accompanied carbonate dissolution in deep-sea settings. Among these events, the Palaeocene-Eocene Thermal Maximum (PETM, c. 55.5 Ma) is globally the best documented and most prominent. Further negative VC anomalies have recently been identified in the Eocene, but the early to middle Palaeocene has mostly been neglected. Here, benthic foraminiferal delta C-13 records are presented from four upper Danian-lower Selandian sections in the Nile Basin (eastern Eg...
Dissolution experiments were carried out on a foraminiferal assemblage from the Paleocene–Eocene Thermal Maximum (PETM) at Dababiya, Egypt, in order to: 1) reveal the effects of differential dissolution on the composition of the foraminiferal assemblage and 2) develop objective criteria for the evaluation of dissolution in foraminiferal assemblages used in early Paleogene paleoenvironmental reconstructions, particularly with respect to neritic Midway-type assemblages from the Paleocene/Eocene transition. Our results confirm two general observations on modern foraminifera: 1) planktic foraminifera are much more vulnerable to dissolution than benthic foraminifera, leading to depressed P/B ratios and 2) dissolution susceptibility differs between size fractions, with the smaller specimens dissolving more rapidly than the bigger ones, leadi...
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