Resultados da pesquisa - Koehler, Katrin

Identification of a novel putative interaction partner of the nucleoporin ALADIN Por Jühlen, Ramona, Landgraf, Dana, Huebner, Angela, Koehler, Katrin

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Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers Por Jühlen, Ramona, Landgraf, Dana, Huebner, Angela, Koehler, Katrin

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“Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports Por Tibussek, Daniel, Ghosh, Sujal, Huebner, Angela, Schaper, Joerg, Mayatepek, Ertan, Koehler, Katrin

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Compensation for chronic oxidative stress in ALADIN null mice Por Jühlen, Ramona, Peitzsch, Mirko, Gärtner, Sebastian, Landgraf, Dana, Eisenhofer, Graeme, Huebner, Angela, Koehler, Katrin

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MON-185 ACTH-Derived Peptide Antagonists as an Alternative Treatment Strategy for Congenital Adrenal Hyperplasia Por Schubert, Tina, Nicke, Lennart, Schanze, André, Reisch, Nicole, Geyer, Armin, Koehler, Katrin, Huebner, Angela

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Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis Por Jühlen, Ramona, Idkowiak, Jan, Taylor, Angela E., Kind, Barbara, Arlt, Wiebke, Huebner, Angela, Koehler, Katrin

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ALADIN is required for the production of fertile mouse oocytes Por Carvalhal, Sara, Stevense, Michelle, Koehler, Katrin, Naumann, Ronald, Huebner, Angela, Jessberger, Rolf, Griffis, Eric R.

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The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation Por Carvalhal, Sara, Ribeiro, Susana Abreu, Arocena, Miguel, Kasciukovic, Taciana, Temme, Achim, Koehler, Katrin, Huebner, Angela, Griffis, Eric R.

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Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism Por Storr, Helen L., Kind, Barbara, Parfitt, David A., Chapple, J. Paul, Lorenz, M., Koehler, Katrin, Huebner, Angela, Clark, Adrian J. L.

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Mice Lacking the Nuclear Pore Complex Protein ALADIN Show Female Infertility but Fail To Develop a Phenotype Resembling Human Triple A Syndrome Por Huebner, Angela, Mann, Philipp, Rohde, Elvira, Kaindl, Angela M., Witt, Martin, Verkade, Paul, Jakubiczka, Sibylle, Menschikowski, Mario, Stoltenburg-Didinger, Gisela, Koehler, Katrin

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CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function Por Schubert, Tina, Reisch, Nicole, Naumann, Ronald, Reichardt, Ilka, Landgraf, Dana, Quitter, Friederike, Thirumalasetty, Shamini Ramkumar, Heninger, Anne-Kristin, Sarov, Mihail, Peitzsch, Mirko, Huebner, Angela, Koehler, Katrin

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A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy Por Vorgerd, Matthias, van der Ven, Peter F. M., Bruchertseifer, Vera, Löwe, Thomas, Kley, Rudolf A., Schröder, Rolf, Lochmüller, Hanns, Himmel, Mirko, Koehler, Katrin, Fürst, Dieter O., Huebner, Angela

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Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature Por Patt, Hiren, Koehler, Katrin, Lodha, Sailesh, Jadhav, Swati, Yerawar, Chaitanya, Huebner, Angela, Thakkar, Kunal, Arya, Sneha, Nair, Sandhya, Goroshi, Manjunath, Ganesh, Hosahithlu, Sarathi, Vijaya, Lila, Anurag, Bandgar, Tushar, Shah, Nalini

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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy Por Hicks, Debbie, Sarkozy, Anna, Muelas, Nuria, Köehler, Katrin, Huebner, Angela, Hudson, Gavin, Chinnery, Patrick F., Barresi, Rita, Eagle, Michelle, Polvikoski, Tuomo, Bailey, Geraldine, Miller, James, Radunovic, Aleksander, Hughes, Paul J., Roberts, Richard, Krause, Sabine, Walter, Maggie C., Laval, Steven H., Straub, Volker, Lochmüller, Hanns, Bushby, Kate

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Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction Por Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Brämswig, Jürgen, Mühlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile, Kurth, Ingo, Huebner, Angela, Hübner, Christian A.

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Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK Por Buonocore, Federica, Maharaj, Avinaash, Qamar, Younus, Koehler, Katrin, Suntharalingham, Jenifer P, Chan, Li F, Ferraz-de-Souza, Bruno, Hughes, Claire R, Lin, Lin, Prasad, Rathi, Allgrove, Jeremy, Andrews, Edward T, Buchanan, Charles R, Cheetham, Tim D, Crowne, Elizabeth C, Davies, Justin H, Gregory, John W, Hindmarsh, Peter C, Hulse, Tony, Krone, Nils P, Shah, Pratik, Shaikh, M Guftar, Roberts, Catherine, Clayton, Peter E, Dattani, Mehul T, Thomas, N Simon, Huebner, Angela, Clark, Adrian J, Metherell, Louise A, Achermann, John C

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