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Your search keyword '"Hammersen, Gerhard"' showing total 2 results
Start Over Author "Hammersen, Gerhard" Publisher university of chicago press
2 results on '"Hammersen, Gerhard"'

1. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Author

Pasutto, Francesca, Sticht, Heinrich, Hammersen, Gerhard, Gillessen-Kaesbach, Gabriele, FitzPatrick, David R., Nurnberg, Gudrun, Brasch, Frank, Schirmer-Zimmermann, Heidemarie, Tolmie, John L., Chitayat, David, Houge, Gunnar, Fernandez-Martinez, Lorena, Keating, Sarah, Mortier, Geert, Hennekam, Raoul C.M., Von Der Wense, Axel, Slavotinek, Anne, Meinecke, Peter, Bitoun, Pierre, Becker, Christian, Nurnberg, Peter, Reis, Andre, and Rauch, Anita

Subjects
Tretinoin -- Research, Anophthalmos -- Genetic aspects, Anophthalmos -- Research, Congenital heart disease -- Genetic aspects, Congenital heart disease -- Research, Diaphragm -- Hernia, Diaphragm -- Genetic aspects, Diaphragm -- Research, Biological sciences
Abstract

Syndromic anophthalmia is studied by performing positional cloning in two unrelated consanguineous families with clinical anophthalmia and variable malformations of the lung, the heart and the diaphragm, as well as mental retardation. STRA6 mutations have defined a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the 'STRA' group.

Published
2007

2. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

Author

Kranz, Christian, Jungeblut, Christoph, Denecke, Jonas, Erlekotte, Anne, Sohlbach, Christina, Debus, Volker, Kehl, Hans Gerd, Harms, Erik, Reith, Anna, Reichel, Sonja, Grobe, Helfried, Hammersen, Gerhard, Schwarzer, Ulrich, and Marquardt, Thorsten

Subjects
Phosphates -- Structure, Phosphates -- Research, Metabolic diseases -- Genetic aspects, Metabolic diseases -- Research, Biosynthesis -- Research, Glycosylation -- Research, Biological sciences
Abstract

The discovery of a new inherited metabolic disorder, dolichol kinase (DK1) deficiency that is responsible for the final step of the de novo biosynthesis of dolichol phosphate, is described. The results have shown that two homozygous mutations in the human homologue of the yeast DK1 caused a lethal phenotype, with death in early infancy.

Published
2007

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