PMC Articles for MedGen (Select 815477) - PMC

Select item 45571121.

Appraisal of gene action for indeterminate growth in mungbean [Vigna radiata (L.) Wilczek]

Javed Iqbal, Muhammad Ahsan, Muhammad Saleem, Asghar Ali

Front Plant Sci. 2015; 6: 665. Published online 2015 Sep 2. doi: 10.3389/fpls.2015.00665

PMCID:: PMC4557112

Abstract Article PDF–567K

Select item 30175912.

The phosphate clamp: a small and independent motif for nucleic acid backbone recognition

Seiji Komeda, Tinoush Moulaei, Masahiko Chikuma, Akira Odani, Ralph Kipping, Nicholas P. Farrell, Loren Dean Williams

Nucleic Acids Res. 2011 Jan; 39(1): 325–336. Published online 2010 Aug 24. doi: 10.1093/nar/gkq723

PMCID:: PMC3017591

Abstract Article PDF–9.0M

Select item 79143973.

Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions

Lihi Atzmony, Theodore D. Zaki, Richard J. Antaya, Keith A. Choate

Am J Med Genet A. Author manuscript; available in PMC 2021 Feb 28.

Published in final edited form as: Am J Med Genet A. 2019 Dec; 179(12): 2469–2473. Published online 2019 Sep 30. doi: 10.1002/ajmg.a.61362

PMCID:: PMC7914397

Abstract Article PDF–984K

Select item 60575294.

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features

Hideyuki Takeuchi, Derek Wong, Michael Schneider, Hudson H Freeze, Megumi Takeuchi, Steven J Berardinelli, Atsuko Ito, Hane Lee, Stanley F Nelson, Robert S Haltiwanger

Glycobiology. 2018 May; 28(5): 276–283. Published online 2018 Feb 14. doi: 10.1093/glycob/cwy014

PMCID:: PMC6057529

Abstract Article PDF–710K

Select item 58816825.

Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations

Brian J McMillan, Brandon Zimmerman, Emily D Egan, Michael Lofgren, Xiang Xu, Anthony Hesser, Stephen C Blacklow

Glycobiology. 2017 Aug; 27(8): 777–786. Published online 2017 Mar 17. doi: 10.1093/glycob/cwx020

PMCID:: PMC5881682

Abstract Article PDF–1.0M

Select item 53738906.

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 41448017.

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 38827288.

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 36752359.

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease

Ming Li, Ruhong Cheng, Jianying Liang, Heng Yan, Hui Zhang, Lijia Yang, Chengrang Li, Qingqing Jiao, Zhiyong Lu, Jianhui He, Jin Ji, Zhu Shen, Chunqi Li, Fei Hao, Hong Yu, Zhirong Yao

Am J Hum Genet. 2013 Jun 6; 92(6): 895–903. doi: 10.1016/j.ajhg.2013.04.022

Correction in:: Am J Hum Genet. 2013 Jun 6; 92(6): 1014.

PMCID:: PMC3675235

Abstract Article PDF–2.3M

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