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11. Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations

Author

Meyer, Jobst, Südbeck, Peter, Held, Marika, Wagner, Thomas, Schmitz, M. Lienhard, Dagna Bricarelli, Franca, Eggermont, Ephrem, Friedrich, Ursula, Haas, Oskar A., Kobelt, Albrecht, Leroy, Jules G., Van Maldergem, Lionel, Michel, Erik, Mitulla, Beate, Pfeiffer, Rudolf A., Schinzel, Albert, Schmidt, Heinrich, Scherer, Gerd, Meyer, Jobst, Südbeck, Peter, Held, Marika, Wagner, Thomas, Schmitz, M. Lienhard, Dagna Bricarelli, Franca, Eggermont, Ephrem, Friedrich, Ursula, Haas, Oskar A., Kobelt, Albrecht, Leroy, Jules G., Van Maldergem, Lionel, Michel, Erik, Mitulla, Beate, Pfeiffer, Rudolf A., Schinzel, Albert, Schmidt, Heinrich, and Scherer, Gerd

Abstract

It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case, no mutation was found. Four missense mutations are all located within the high mobility group (HMG) domain. They either reduce or abolish the DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense and three frameshift mutations identified, two leave the C-terminal transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or almost completely intact. When tested in cell transfection experiments, the recurrent nonsense mutation Y440X, found in two patients who survived for four and more than 9 years, respectively, exhibits some residual transactivation ability. In contrast, a frameshift mutation extending the protein by 70 residues at codon 507, found in a patient who died shortly after birth, showed no transactivation. This is apparently due to instability of the mutant SOX9 protein as demonstrated by Western blotting. Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance. Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations

Published
2017

30. Seasonal variation in the birth of children with aneuploid chromosome abnormalities: Report from the Danish Cytogenetic Central Register

Author

Nielsen, J., Petersen, G. Bruun, Therkelsen, A. J., Christensen, Kirsten Riber, Dahl, Gudrun, Friedrich, Ursula, Frøland, Anders, Jacobsen, Petrea, Krogh-Jensen, Mogens, Mikkelsen, Margareta, Mohr, Jan, Niebuhr, Erik, Philip, John, Schultz-Larsen, Jørgen, Skakkebæk, Niels, Visfeldt, Jacob, and Zeuthen, Eva

Published
1973
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46. A supernumerary marker chromosome with a neocentromere derived from 5p14-pter

Author

Fritz, Barbara, Dietze, Ilona, Wandall, Annelise, Aslan, Mücehver, Schmidt, Angela, Kattner, Evelyn, Schwerdtfeger, Robin, Friedrich, Ursula, Fritz, Barbara, Dietze, Ilona, Wandall, Annelise, Aslan, Mücehver, Schmidt, Angela, Kattner, Evelyn, Schwerdtfeger, Robin, and Friedrich, Ursula

Abstract

neocentromere, dup(5p) syndrome, marker chromosome

Published
2001

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