Search Results - "OEFFNER, Frank"

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response by Oeffner, Frank, Fischer, Gayle, Happle, Rudolf, König, Arne, Betz, Regina C., Bornholdt, Dorothea, Neidel, Ulrike, del Carmen Boente, María, Redler, Silke, Romero-Gomez, Javier, Salhi, Aïcha, Vera-Casaño, Ángel, Weirich, Christian, Grzeschik, Karl-Heinz

“…Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome) is a rare X-linked, oculocutaneous human disorder. Here, we assign the IFAP locus to the…”
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Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome by Oeffner, Frank, Martinez, Francisco, Schaffer, Julie, Salhi, Aïcha, Monfort, Sandra, Oltra, Silvestre, Neidel, Ulrike, Bornholdt, Dorothea, van Bon, Bregje, König, Arne, Happle, Rudolf, Grzeschik, Karl-Heinz

“…:  Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome is an X‐linked genodermatosis with congenital atrichia being the most prominent feature…”
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Cloning and characterization of gp36, a human mucin-type glycoprotein preferentially expressed in vascular endothelium by Zimmer, G, Oeffner, F, Von Messling, V, Tschernig, T, Gröness, H J, Klenk, H D, Herrler, G

“…A mucin-type glycoprotein has been described in murine, rat and canine tissues as a differentiation antigen and influenza-virus receptor. We have cloned a cDNA…”
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Deficiency of PORCN , a regulator of Wnt signaling, is associated with focal dermal hypoplasia by Hertl, Michael, Happle, Rudolf, Oeffner, Frank, Bornholdt, Dorothea, del Carmen Boente, María, Szalai, Zsuzsanna, Oji, Vinzenz, Traupe, Heiko, Schuchardt, Christian, Tadini, Gianluca, König, Arne, Paradisi, Mauro, Fritz, Barbara, Höfling, Katja, Grasshoff, Ute, Enders, Herbert, Grzeschik, Karl-Heinz

“…Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach…”
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Cloning and characterization of gp36, a human mucin-type glycoprotein preferentially expressed in vascular endothelium by ZIMMER, Gert, OEFFNER, Frank, MESSLING, V. V, TSCHERNIG, Thomas, GRÖNE, H, KLENK, H, HERRLER, Georg

“…A mucin-type glycoprotein has been described in murine, rat and canine tissues as a differentiation antigen and influenza-virus receptor. We have cloned a cDNA…”
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Is the risk of multiple sclerosis related to the ‘biography’ of the immune system? by Krone, Bernd, Oeffner, Frank, Grange, John M.

“…Multiple sclerosis (MS) with onset in childhood offers a unique opportunity to study the infectious background of this disease but the immune reactions against…”
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An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation by Houge, Gunnar, Oeffner, Frank, Grzeschik, Karl-Heinz

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Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2 by Bornholdt, Dorothea, Atkinson, T. Prescott, Bouadjar, Bakar, Catteau, Benoit, Cox, Helen, De Silva, Deepthi, Fischer, Judith, Gunasekera, Chalukya N., Hadj-Rabia, Smaïl, Happle, Rudolf, Holder-Espinasse, Muriel, Kaminski, Elke, König, Arne, Mégarbané, André, Mégarbané, Hala, Neidel, Ulrike, Oeffner, Frank, Oji, Vinzenz, Theos, Amy, Traupe, Heiko, Vahlquist, Anders, van Bon, Bregje W., Virtanen, Marie, Grzeschik, Karl-Heinz

“…ABSTRACT Missense mutations affecting membrane‐bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with…”
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Menkes disease with discordant phenotype in female monozygotic twins by Burgemeister, Anna Lena, Zirn, Birgit, Oeffner, Frank, Kaler, Stephen G., Lemm, Gunther, Rossier, Eva, Büttel, Hans-Martin

“…Menkes disease (MD) is a rare X‐linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is…”
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PORCN mutations in focal dermal hypoplasia: coping with lethality by Bornholdt, Dorothea, Oeffner, Frank, König, Arne, Happle, Rudolf, Alanay, Yasemin, Ascherman, Jeffrey, Benke, Paul J, del Carmen Boente, María, van der Burgt, Ineke, Chassaing, Nicolas, Ellis, Ian, Francisco, Christina Raissa I, Giovanna, Patricia Della, Hamel, Ben, Has, Cristina, Heinelt, Kaatje, Janecke, Andreas, Kastrup, Wolfgang, Loeys, Bart, Lohrisch, Ingo, Marcelis, Carlo, Mehraein, Yasmin, Nicolas, Marie Eleanore O, Pagliarini, Dana, Paradisi, Mauro, Patrizi, Annalisa, Piccione, Maria, Piza-Katzer, Hildegunde, Prager, Bettina, Prescott, Katrina, Strien, Juliane, Utine, G. Eda, Zeller, Marc S, Grzeschik, Karl-Heinz

“…The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block…”
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Monozygotic twins discordant for Proteus syndrome by Brockmann, Knut, Happle, Rudolf, Oeffner, Frank, König, Arne

“…Proteus syndrome is a rare, complex disorder predominantly characterized by asymmetric overgrowth of body parts, connective tissue and epidermal nevi, and…”
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Donor dominance cures CHILD nevus by König, Arne, Skrzypek, Jan, Löffler, Harald, Oeffner, Frank, Grzeschik, Karl-Heinz, Happle, Rudolf

“…Congenital hemidysplasia with ichthyosiform nevus and limb defects (MIM 308050, CHILD) syndrome is an X-linked dominant, male-lethal, multisystem birth defect…”
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Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene by SALHI, Aicha, BORNHOLDT, Dorothea, OEFFNER, Frank, MALIK, Sajid, HEID, Ernest, HAPPLE, Rudolf, GRZESCHIK, Karl-Heinz

“…The recessive oncogene cylindromatosis (CYLD) mapping on 16q12-q13 is generally implicated in familial cylindromatosis, whereas a gene region for multiple…”
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Common infectious agents in multiple sclerosis: a case—control study in children by Krone, Bernd, Pohl, Daniela, Rostasy, Kevin, Kahler, Elke, Brunner, Edgar, Oeffner, Frank, Grange, John M., Gärtner, Jutta, Hanefeld, Folker

“…Environmental factors, in particular infections, have been linked with the risk of developing multiple sclerosis (MS). The association of Epstein—Barr virus…”
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Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome: Letter to the Editor by Oeffner, Frank, Martinez, Francisco, Schaffer, Julie, Salhi, Aïcha, Monfort, Sandra, Oltra, Silvestre, Neidel, Ulrike, Bornholdt, Dorothea, van Bon, Bregje, König, Arne, Happle, Rudolf, Grzeschik, Karl-Heinz

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Independent Confirmation of a Major Locus for Obesity on Chromosome 10 by Hinney, Anke, Ziegler, Andreas, Oeffner, Frank, Wedewardt, Christine, Vogel, Markus, Wulftange, Heiko, Geller, Frank, Stübing, Kurt, Siegfried, Wolfgang, Goldschmidt, Hans-Peter, Remschmidt, Helmut, Hebebrand, Johannes

“…Linkage results obtained in genome-wide scans for complex phenotypes require confirmation in independent samples. Recently, linkage of obesity to chromosome…”
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PORCN mutations in focal dermal hypoplasia: coping with lethality by Bornholdt, Dorothea, Oeffner, Frank, König, Arne, Happle, Rudolf, Alanay, Yasemin, Ascherman, Jeffrey, Benke, Paul J., del Carmen Boente, María, van der Burgt, Ineke, Chassaing, Nicolas, Ellis, Ian, Francisco, Christina Raissa I., Giovanna, Patricia Della, Hamel, Ben, Has, Cristina, Heinelt, Kaatje, Janecke, Andreas, Kastrup, Wolfgang, Loeys, Bart, Lohrisch, Ingo, Marcelis, Carlo, Mehraein, Yasmin, Nicolas, Marie Eleanore O., Pagliarini, Dana, Paradisi, Mauro, Patrizi, Annalisa, Piccione, Maria, Piza-Katzer, Hildegunde, Prager, Bettina, Prescott, Katrina, Strien, Juliane, Utine, G. Eda, Zeller, Marc S., Grzeschik, Karl-Heinz

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Interactive e-learning courses in human genetics: usage and evaluation by science and medical students at the faculty of medicin by Oeffner, Frank, Schäfer, Christine, Fritz, Barbara, Fuchs, Aurelia Lara, Rauschendorf, Alexander, König, Rainer, Kunz, Jürgen

“…This study presents our online-teaching material within the k-MED project (Knowledge in Medical Education) at the university of Marburg. It is currently…”
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PORCN mutations in focal dermal hypoplasia: coping with lethality: PORCN Mutations in FDH by Bornholdt, Dorothea, Oeffner, Frank, König, Arne, Happle, Rudolf, Alanay, Yasemin, Ascherman, Jeffrey, Benke, Paul J., del Carmen Boente, María, van der Burgt, Ineke, Chassaing, Nicolas, Ellis, Ian, Francisco, Christina Raissa I., Giovanna, Patricia Della, Hamel, Ben, Has, Cristina, Heinelt, Kaatje, Janecke, Andreas, Kastrup, Wolfgang, Loeys, Bart, Lohrisch, Ingo, Marcelis, Carlo, Mehraein, Yasmin, Nicolas, Marie Eleanore O., Pagliarini, Dana, Paradisi, Mauro, Patrizi, Annalisa, Piccione, Maria, Piza-Katzer, Hildegunde, Prager, Bettina, Prescott, Katrina, Strien, Juliane, Utine, G. Eda, Zeller, Marc S., Grzeschik, Karl-Heinz

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Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31 by MALIK, Sajid, SCHOTT, Jörg, WAJAHAT ALI, Syed, OEFFNER, Frank, AMIN-UD-DIN, Muhammad, AHMAD, Wasim, GRZESCHIK, Karl-Heinz, KOCH, Manuela C

“…There is good evidence from the medical literature that type I syndactyly, the most common form of the nonsyndromic syndactylies, is clinically heterogeneous…”
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