PMC Articles for MedGen (Select 816643) - PMC

Select item 270291.

Sequencing of 3-O sulfate containing heparin decasaccharides with a partial antithrombin III binding site

Zachary Shriver, Rahul Raman, Ganesh Venkataraman, Katherine Drummond, Jeremy Turnbull, Toshihiko Toida, Robert Linhardt, Klaus Biemann, Ram Sasisekharan

Proc Natl Acad Sci U S A. 2000 Sep 12; 97(19): 10359–10364. doi: 10.1073/pnas.97.19.10359

PMCID:: PMC27029

Abstract Article PDF–162K

Select item 79135172.

Multiomics Integration in Skin Diseases with Alterations in Notch Signaling Pathway: PlatOMICs Phase 1 Deployment

Lucas André Cavalcanti Brandão, Paola Maura Tricarico, Rossella Gratton, Almerinda Agrelli, Luisa Zupin, Haissam Abou-Saleh, Ronald Moura, Sergio Crovella

Int J Mol Sci. 2021 Feb; 22(4): 1523. Published online 2021 Feb 3. doi: 10.3390/ijms22041523

PMCID:: PMC7913517

Abstract Article PDF–938K

Select item 53738903.

Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Damian J. Ralser, F. Buket Ü. Basmanav, Aylar Tafazzoli, Jade Wititsuwannakul, Sarah Delker, Sumita Danda, Holger Thiele, Sabrina Wolf, Michélle Busch, Susanne A. Pulimood, Janine Altmüller, Peter Nürnberg, Didier Lacombe, Uwe Hillen, Jörg Wenzel, Jorge Frank, Benjamin Odermatt, Regina C. Betz

J Clin Invest. 2017 Apr 3; 127(4): 1485–1490. Published online 2017 Mar 13. doi: 10.1172/JCI90667

PMCID:: PMC5373890

Abstract Article PDF–2.2M

Select item 46196744.

Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2

Nitya Ramkumar, Beth M. Harvey, Jeffrey D. Lee, Heather L. Alcorn, Nancy F. Silva-Gagliardi, C. Jane McGlade, Timothy H. Bestor, Jan Wijnholds, Robert S. Haltiwanger, Kathryn V. Anderson

PLoS Genet. 2015 Oct; 11(10): e1005551. Published online 2015 Oct 23. doi: 10.1371/journal.pgen.1005551

PMCID:: PMC4619674

Abstract Article PDF–11M

Select item 41448015.

Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Mingfei Chen, Yi Li, Hong Liu, Xi'an Fu, Yiongxiang Yu, Gongqi Yu, Chuan Wang, Fangfang Bao, Herty Liany, Zhenzhen Wang, Zhongxiang Shi, Dizhan Zhang, Guizhi Zhou, Jianjun Liu, Furen Zhang

PLoS One. 2014; 9(8): e104496. Published online 2014 Aug 26. doi: 10.1371/journal.pone.0104496

PMCID:: PMC4144801

Abstract Article PDF–401K

Select item 38827286.

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

F. Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M. Pasternack, Holger Thiele, Günter Fritz, Jörg Wenzel, Leopold Größer, Maria Wehner, Sabrina Wolf, Christina Fagerberg, Anette Bygum, Janine Altmüller, Arno Rütten, Laurent Parmentier, Laila El Shabrawi-Caelen, Christian Hafner, Peter Nürnberg, Roland Kruse, Susanne Schoch, Sandra Hanneken, Regina C. Betz

Am J Hum Genet. 2014 Jan 2; 94(1): 135–143. doi: 10.1016/j.ajhg.2013.12.003

PMCID:: PMC3882728

Abstract Article PDF–1.8M

Select item 13802947.

Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

Regina C. Betz, Laura Planko, Sibylle Eigelshoven, Sandra Hanneken, Sandra M. Pasternack, Heinrich Büssow, Kris Van Den Bogaert, Joerg Wenzel, Markus Braun-Falco, Arno Rütten, Michael A. Rogers, Thomas Ruzicka, Markus M. Nöthen, Thomas M. Magin, Roland Kruse

Am J Hum Genet. 2006 Mar; 78(3): 510–519. Published online 2006 Jan 19. doi: 10.1086/500850

PMCID:: PMC1380294

Abstract Article PDF–7.8M

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