G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
Pasternack, Sandra M, Molderings, Gerhard J, Voss, Katrin, Betz, Regina C, Nöthen, Markus M, Aboud, Khalid Al, Lee, Young-Ae, Hillmer, Axel M, Ramirez, Alfredo, Rüschendorf, Franz, Nürnberg, Peter, Franz, Thomas, von Kügelgen, Ivar
Published in Nature genetics (01.03.2008)
Published in Nature genetics (01.03.2008)
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Journal Article
Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer
GIEHL, Kathrin A, ECKSTEIN, Gertrud N, BRAUN-FALCO, Markus, BETZ, Regina C, STROM, Tim M, PASTERNACK, Sandra M, PRAETZEL-WUNDER, Silke, RUZICKA, Thomas, LICHTNER, Peter, SEIDL, Kerstin, ROGERS, Mike, GRAF, Elisabeth, LANGBEIN, Lutz
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Journal Article
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Pasternack, Sandra M., Refke, Melanie, Paknia, Elham, Hennies, Hans Christian, Franz, Thomas, Schäfer, Niklas, Fryer, Alan, van Steensel, Maurice, Sweeney, Elizabeth, Just, Miquel, Grimm, Clemens, Kruse, Roland, Ferrándiz, Carlos, Nöthen, Markus M., Fischer, Utz, Betz, Regina C.
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Journal Article
Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease
Betz, Regina C., Planko, Laura, Eigelshoven, Sibylle, Hanneken, Sandra, Pasternack, Sandra M., Büssow, Heinrich, Van Den Bogaert, Kris, Wenzel, Joerg, Braun-Falco, Markus, Rütten, Arno, Rogers, Michael A., Ruzicka, Thomas, Nöthen, Markus M., Magin, Thomas M., Kruse, Roland
Published in American journal of human genetics (01.03.2006)
Published in American journal of human genetics (01.03.2006)
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Journal Article
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: Additional genetic evidence in a German family
Schmieder, Astrid, MD, Pasternack, Sandra M., PhD, Krahl, Dieter, MD, Betz, Regina C., MD, Leverkus, Martin, MD
Published in Journal of the American Academy of Dermatology (01.06.2012)
Published in Journal of the American Academy of Dermatology (01.06.2012)
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Journal Article
In Vitro Analysis of LIPH Mutations Causing Hypotrichosis Simplex: Evidence Confirming the Role of Lipase H and Lysophosphatidic Acid in Hair Growth
Pasternack, Sandra M., von Kügelgen, Ivar, Müller, Melanie, Oji, Vinzenz, Traupe, Heiko, Sprecher, Eli, Nöthen, Markus M., Janecke, Andreas R., Betz, Regina C.
Published in Journal of investigative dermatology (01.12.2009)
Published in Journal of investigative dermatology (01.12.2009)
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Journal Article
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2
Schlaweck, Annika E, Tazi-Ahnini, Rachid, Ü Basmanav, F Buket, Mohungoo, Javed, Pasternack-Ziach, Sandra M, Mattheisen, Manuel, Oprisoreanu, Ana-Maria, Humbatova, Aytaj, Wolf, Sabrina, Messenger, Andrew, Betz, Regina C
Published in PloS one (02.12.2019)
Published in PloS one (02.12.2019)
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Journal Article
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family
Verma, Shyam, Pasternack, Sandra M, Rütten, Arno, Ruzicka, Thomas, Betz, Regina C, Hanneken, Sandra
Published in Indian journal of dermatology (01.09.2014)
Published in Indian journal of dermatology (01.09.2014)
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Journal Article
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Günter, Wenzel, Jörg, Größer, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmüller, Janine, Rütten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nürnberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, Betz, Regina C.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Journal Article
large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
Nahum, Sagi, Pasternack, Sandra M, Pforr, Jana, Indelman, Margarita, Wollnik, Bernd, Bergman, Reuven, Nöthen, Markus M, König, Arne, Khamaysi, Ziyad, Betz, Regina C, Sprecher, Eli
Published in Archives of Dermatological Research (01.06.2009)
Published in Archives of Dermatological Research (01.06.2009)
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Journal Article
Follow-Up Study of the First Genome-Wide Association Scan in Alopecia Areata: IL13 and KIAA0350 as Susceptibility Loci Supported with Genome-Wide Significance
Jagielska, Dagny, Redler, Silke, Brockschmidt, Felix F., Herold, Christine, Pasternack, Sandra M., Garcia Bartels, Natalie, Hanneken, Sandra, Eigelshoven, Sibylle, Refke, Melanie, Barth, Sandra, Giehl, Kathrin A., Kruse, Roland, Lutz, Gerhard, Wolff, Hans, Blaumeiser, Bettina, Böhm, Markus, Blume-Peytavi, Ulrike, Becker, Tim, Nöthen, Markus M., Betz, Regina C.
Published in Journal of investigative dermatology (01.09.2012)
Published in Journal of investigative dermatology (01.09.2012)
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Journal Article
Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis
Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmüller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, Sandra M., Keppler, Kathleen, Adam, Ronja, Kayser, Katrin, Moebus, Susanne, Draaken, Markus, Degenhardt, Franziska, Engels, Hartmut, Hofmann, Andrea, Nöthen, Markus M., Steinke, Verena, Perez‐Bouza, Alberto, Herms, Stefan, Holinski‐Feder, Elke, Fröhlich, Holger, Thiele, Holger, Hoffmann, Per, Aretz, Stefan
Published in International journal of cancer (15.03.2015)
Published in International journal of cancer (15.03.2015)
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Journal Article
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse‐Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene
Nanda, Arti, Pasternack, Sandra M., Mahmoudi, Hassnaa, Ishorst, Nina, Grimalt, Ramon, Betz, Regina C.
Published in Pediatric dermatology (01.01.2014)
Published in Pediatric dermatology (01.01.2014)
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Journal Article
Generalized Solar Lentigines in a Patient with a History of Radon Exposure
Mauerer, Andreas, Betz, Regina C., Pasternack, Sandra M., Landthaler, Michael, Hafner, Christian
Published in Dermatology (Basel) (01.01.2010)
Published in Dermatology (Basel) (01.01.2010)
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Journal Article
Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair
Mahmoudi, Hassnaa, Tug, Esra, Parlak, Ali Haydar, Atasoy, Halil Ibrahim, Ludwig, Michael, Polat, Mualla, Pasternack, Sandra M., Betz, Regina C.
Published in Experimental dermatology (01.06.2012)
Published in Experimental dermatology (01.06.2012)
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Journal Article
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair
Pasternack, Sandra M, Murugusundram, Sundaram, Eigelshoven, Sibylle, Müller, Melanie, Kruse, Roland, Lehmann, Percy, Betz, Regina C
Published in Archives of Dermatological Research (01.09.2009)
Published in Archives of Dermatological Research (01.09.2009)
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Journal Article
Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs
Lippmann, Tanja, Pasternack, Sandra M, Kraczyk, Britta, Dudek, Sabine E, Dekomien, Gabriele
Published in Journal of negative results in biomedicine (29.11.2006)
Published in Journal of negative results in biomedicine (29.11.2006)
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Journal Article
Identification of an A lu‐mediated 12.2‐kb deletion of the complete LPAR 6 ( P2 RY 5 ) gene in a T urkish family with hypotrichosis and woolly hair
Mahmoudi, Hassnaa, Tug, Esra, Parlak, Ali Haydar, Atasoy, Halil Ibrahim, Ludwig, Michael, Polat, Mualla, Pasternack, Sandra M., Betz, Regina C.
Published in Experimental dermatology (01.06.2012)
Published in Experimental dermatology (01.06.2012)
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Journal Article