Search Results - "Boddrich, A."

Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked Hypophosphatemia by Strom, Tim M., Francis, Fiona, Lorenz, Bettina, Böddrich, Annett, Lehrach, Hans, Econs, Michael J., Meitinger, Thomas

“…X-linked hypophosphatemic rickets in humans is caused by mutations in the PEX gene which codes for a protein homologous to neutral endopeptidases. Hyp and Gy…”
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Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets by Francis, F, Strom, T M, Hennig, S, Böddrich, A, Lorenz, B, Brandau, O, Mohnike, K L, Cagnoli, M, Steffens, C, Klages, S, Borzym, K, Pohl, T, Oudet, C, Econs, M J, Rowe, P S, Reinhardt, R, Meitinger, T, Lehrach, H

“…X-linked dominant hypophosphatemic rickets (HYP) is the most common form of hereditary rickets. Recently we have cloned the PEX gene and shown it to be mutated…”
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New evidence for a mutation hotspot in exon 37 of the NF1 gene by Böddrich, Annett, Robinson, Peter N., Schülke, Markus, Buske, Annegret, Tinschert, Sigrid, Nürnberg, Peter

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Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8 by Horn, D, Robinson, P N, Böddrich, A, Buske, A, Tinschert, S, Nürnberg, P

“…We screened a total of 100 unrelated patients with neurofibromatosis type 1 (NF1) for mutations on exons 5 and 8 of the NF1 gene using temperature gradient gel…”
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Pathological consequences of VCP mutations on human striated muscle by Hübbers, Christian U., Clemen, Christoph S., Kesper, Kristina, Böddrich, Annett, Hofmann, Andreas, Kämäräinen, Outi, Tolksdorf, Karen, Stumpf, Maria, Reichelt, Julia, Roth, Udo, Krause, Sabine, Watts, Giles, Kimonis, Virginia, Wattjes, Mike P., Reimann, Jens, Thal, Dietmar R., Biermann, Katharina, Evert, Bernd O., Lochmüller, Hanns, Wanker, Erich E., Schoser, Benedikt G. H., Noegel, Angelika A., Schröder, Rolf

“…Mutations in the valosin-containing protein (VCP, p97) gene on chromosome 9p13–p12 cause a late-onset form of autosomal dominant inclusion body myopathy…”
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A molecular pathogenesis for transcription factor associated poly-alanine tract expansions by Albrecht, Andrea N., Kornak, Uwe, Böddrich, Annett, Süring, Kathrin, Robinson, Peter N., Stiege, Asita C., Lurz, Rudi, Stricker, Sigmar, Wanker, Erich E., Mundlos, Stefan

“…Poly-alanine (Ala) tract expansions in transcription factors have been shown to be associated with human birth defects such as malformations of the brain, the…”
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Spermine Deficiency in Gy Mice Caused by Deletion of the Spermine Synthase Gene by Lorenz, Bettina, Francis, Fiona, Gempel, Klaus, Böddrich, Annett, Josten, Markus, Schmahl, Wolfgang, Schmidt, Jörg, Lehrach, Hans, Meitinger, Thomas, Strom, Tim M.

“…Two mouse mutations gyro (Gy) and hypophosphatemia (Hyp) are mouse models for X-linked hypophosphatemic rickets and have been shown to be deleted for the 5′…”
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Identification of VCP/p97, Carboxyl Terminus of Hsp70-interacting Protein (CHIP), and Amphiphysin II Interaction Partners Using Membrane-based Human Proteome Arrays by Grelle, Gerlinde, Kostka, Susanne, Otto, Albrecht, Kersten, Birgit, Genser, Klaus F, Müller, Eva-Christina, Wälter, Stephanie, Böddrich, Annett, Stelzl, Ulrich, Hänig, Christian, Volkmer-Engert, Rudolf, Landgraf, Christiane, Alberti, Simon, Höhfeld, Jörg, Strödicke, Martin, Wanker, Erich E

“…Proteins mediate their biological function through interactions with other proteins. Therefore, the systematic identification and characterization of…”
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Reduced Neurofibromin Content but Normal Gap Activity in a Patient with Neurofibromatosis Type 1 Caused by a Five-Base-Pair Duplication in Exon 12B of the NF1 Gene by Boddrich, A., Griesser, J., Horn, D., Kaufmann, D., Krone, W., Nurnberg, P.

“…We screened a total of 87 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exons 11, 12a, and 12b of the NF1 gene using temperature…”
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The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements by Albrecht, Andrea N., Schwabe, Georg C., Stricker, Sigmar, Böddrich, Annett, Wanker, Erich E., Mundlos, Stefan

“…We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype…”
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Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene by Robinson, P N, Böddrich, A, Peters, H, Tinschert, S, Buske, A, Kaufmann, D, Nürnberg, P

“…We screened a total of 92 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 37 of the NF1 gene, by using temperature gradient gel…”
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Two recurrent nonsense mutations and a 5 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene by ROBINSON, P. N, BÖDDRICH, A, PETERS, H, TINSCHERT, S, BUSKE, A, KAUFMANN, D, NÜRNBERG, P

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