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1. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Author

Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, Christiano, Angela M, Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, and Christiano, Angela M

Published
2015

2. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Author

Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, Christiano, Angela M, Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, and Christiano, Angela M

Published
2015

3. Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura

Author

Basmanav, F. Buket, Fritz, Guenter, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette, Betz, Regina C., Basmanav, F. Buket, Fritz, Guenter, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette, and Betz, Regina C.

Published
2015

4. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Author

Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, Christiano, Angela M, Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, and Christiano, Angela M

Published
2015

5. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Author

Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, CMM Groep Kaaij, Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, Christiano, Angela M, Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, CMM Groep Kaaij, Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, and Christiano, Angela M

Published
2015

6. Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura

Author

Basmanav, F. Buket, Fritz, Guenter, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette, Betz, Regina C., Basmanav, F. Buket, Fritz, Guenter, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette, and Betz, Regina C.

Published
2015

7. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Author

Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, Betz, Regina C., Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, and Betz, Regina C.

Abstract

Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyper-pigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals without mutations in KRT5. Data analysis identified three heterozygous mutations from these individuals, all within the same gene. These mutations, namely c.11G>A (p.Trp4*), c.652C>T (p.Arg218*), and c.798-2A>C, are within POGLUT1, which encodes protein O-glucosyltransferase 1. Further screening of unexplained cases for POGLUT1 identified six additional mutations, as well as two of the above described mutations. Immunohistochemistry of skin biopsies of affected individuals with POGLUT1 mutations showed significantly weaker POGLUT1 staining in comparison to healthy controls with strong localization of POGLUT1 in the upper parts of the epidermis. Immunoblot analysis revealed that translation of either wild-type (WT) POGLUT1 or of the protein carrying the p.Arg279Trp substitution led to the expected size of about 50 kDa, whereas the c.652C>T (p.Arg218*) mutation led to translation of a truncated protein of about 30 kDa. Immunofluorescence analysis identified a colocalization of the WT protein with the endoplasmic reticulum and a notable aggregating pattern for the truncated protein. Recently, mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were also reported to be responsible for DDD. Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity. Our results furthermore emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology.

Published
2014

8. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Author

Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, Betz, Regina C., Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, and Betz, Regina C.

Abstract

Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyper-pigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals without mutations in KRT5. Data analysis identified three heterozygous mutations from these individuals, all within the same gene. These mutations, namely c.11G>A (p.Trp4*), c.652C>T (p.Arg218*), and c.798-2A>C, are within POGLUT1, which encodes protein O-glucosyltransferase 1. Further screening of unexplained cases for POGLUT1 identified six additional mutations, as well as two of the above described mutations. Immunohistochemistry of skin biopsies of affected individuals with POGLUT1 mutations showed significantly weaker POGLUT1 staining in comparison to healthy controls with strong localization of POGLUT1 in the upper parts of the epidermis. Immunoblot analysis revealed that translation of either wild-type (WT) POGLUT1 or of the protein carrying the p.Arg279Trp substitution led to the expected size of about 50 kDa, whereas the c.652C>T (p.Arg218*) mutation led to translation of a truncated protein of about 30 kDa. Immunofluorescence analysis identified a colocalization of the WT protein with the endoplasmic reticulum and a notable aggregating pattern for the truncated protein. Recently, mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were also reported to be responsible for DDD. Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity. Our results furthermore emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology.

Published
2014

9. The influences of environmental conditions on source localisation using a single vertical array and their exploitation through ground effect inversion

Author

Kruse, Roland, Taherzadeh, Shahram, Kruse, Roland, and Taherzadeh, Shahram

Abstract

The performance of microphone arrays outdoors is influenced by the environmental conditions. Numerical simulations indicate that, while horizontal arrays are hardly affected, direction-of-arrival (DOA) estimation with vertical arrays becomes biased in presence of ground reflections and sound speed gradients. Turbulence leads to a huge variability in the estimates by reducing the ground effect. Ground effect can be exploited by combining classical source localization with an appropriate propagation model (ground effect inversion). Not only does this allow the source elevation and range to be determined with a single vertical array but also it allows separation of sources which can no longer be distinguished by far field localization methods. Furthermore, simulations provide detail of the achievable spatial resolution depending on frequency range, array size and localization algorithm and show a clear advantage of broadband processing. Outdoor measurements with one or two sources confirm the results of the numerical simulations.

10. The influences of environmental conditions on source localisation using a single vertical array and their exploitation through ground effect inversion

Author

Kruse, Roland, Taherzadeh, Shahram, Kruse, Roland, and Taherzadeh, Shahram

Abstract

The performance of microphone arrays outdoors is influenced by the environmental conditions. Numerical simulations indicate that, while horizontal arrays are hardly affected, direction-of-arrival (DOA) estimation with vertical arrays becomes biased in presence of ground reflections and sound speed gradients. Turbulence leads to a huge variability in the estimates by reducing the ground effect. Ground effect can be exploited by combining classical source localization with an appropriate propagation model (ground effect inversion). Not only does this allow the source elevation and range to be determined with a single vertical array but also it allows separation of sources which can no longer be distinguished by far field localization methods. Furthermore, simulations provide detail of the achievable spatial resolution depending on frequency range, array size and localization algorithm and show a clear advantage of broadband processing. Outdoor measurements with one or two sources confirm the results of the numerical simulations.

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