7 research outputs found
Recurrence of Dupuytren\u27s contracture: A consensus-based definition
- Author
- Publication venue
- Digital Commons@Becker
- Publication date
- 01/01/2017
- Field of study
Dimensions.
- Author
- Publication venue
- Publication date
- Field of study
<p>The dimensions (numbered 1–4) were presented to the experts and the resulting consensus on each dimension is presented. The last column shows the percentage of experts that agreed on each consensus or a range of percentages, when the outcome differed in more than one round of the Delphi study.</p
Examples of recurrences.
- Author
- Publication venue
- Publication date
- Field of study
<p>Table showing a fictitious cohort of Dupuytren’s patients and shows when recurrence has occurred by using the consensus definition. It also shows the recurrence rate that should be described in the paper.</p
Flow diagram.
- Author
- Publication venue
- Publication date
- Field of study
<p>Figure showing shows the number of experts who were included in the study rounds and their country of origin.</p
The consequences of different definitions for recurrence of Dupuytren's disease
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
- Author
- Almeida
- Anand
- Ashida
- Athanasios Evangeliou
- Babovic-Vuksanovic
- Bickel
- Brockington
- Burda
- Callewaert
- Christa van den Elzen
- Daniel Hess
- de Jong
- Dirk J. Lefeber
- Dominique Klein
- Doucey
- Eva Morava
- Frank W. Preijers
- Garcia-Silva
- Godfrey
- Haeuptle
- Hess
- Hisashi Ashida
- Imbach
- Ishikawa
- Jaeken
- Jan Hofsteenge
- Jang-Lee
- Jef Yildiz
- Johannes Schönberger
- Karin M. Huyben
- Kean
- Kiek Verrijp
- Kim
- Knauer
- Korner
- Kranz
- Kranz
- Lambert van den Heuvel
- Lehle
- Lehle
- Ludwig Lehle
- Maeda
- Maeda
- Mailys Guillard
- Manya
- Marquardt
- Martha Spilioti
- Martin Lammens
- Menon
- Mercuri
- Murakami
- Olga Grafakou
- Panagiota Manta
- Peters
- Poppe
- Ron A. Wevers
- Schenk
- Schwarz
- Stephanie Grünewald
- Sugiyama
- Tajima
- Tomita
- van Geet
- van Reeuwijk
- Watanabe
- Wopereis
- Wu
- Yusuke Maeda
- Publication venue
- Elsevier
- Publication date
- 01/01/2009
- Field of study
Alpha-dystroglycanopathies such as Walker Warburg syndrome represent an important subgroup of the muscular dystrophies that have been related to defective O-mannosylation of alpha-dystroglycan. In many patients, the underlying genetic etiology remains unsolved. Isolated muscular dystrophy has not been described in the congenital disorders of glycosylation (CDG) caused by N-linked protein glycosylation defects. Here, we present a genetic N-glycosylation disorder with muscular dystrophy in the group of CDG type I. Extensive biochemical investigations revealed a strongly reduced dolichol-phosphate-mannose (Dol-P-Man) synthase activity. Sequencing of the three DPM subunits and complementation of DPM3-deficient CHO2.38 cells showed a pathogenic p.L85S missense mutation in the strongly conserved coiled-coil domain of DPM3 that tethers catalytic DPM1 to the ER membrane. Cotransfection experiments in CHO cells showed a reduced binding capacity of DPM3(L85S) for DPM1. Investigation of the four Dol-P-Man-dependent glycosylation pathways in the ER revealed strongly reduced O-mannosylation of alpha-dystroglycan in a muscle biopsy, thereby explaining the clinical phenotype of muscular dystrophy. This mild Dol-P-Man biosynthesis defect due to DPM3 mutations is a cause for alpha-dystroglycanopathy, thereby bridging the congenital disorders of glycosylation with the dystroglycanopathies
Spezielle Pathologie des Gesichtsfeldes
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- Wells Soelberg
- Welton
- Welton
- Welton
- Wessely
- Wessely K.
- Wessely K.
- Wessely K.
- Wessely K.
- Westphal
- Wettendorfer
- WF Norris
- WH Crisp
- WH Melanowski
- Whitehead , L.
- WI Lillie
- WI Lillie
- WI Lillie
- WI Lillie
- WI Lillie
- Wick
- Widmark
- Widmark
- Wiegmann
- Wilbrand
- Wilbrand
- wilbrand
- Williams
- Windsor
- Winselmann
- Wissmann
- Wissmann
- WJ Adie
- WJ Adie
- WJ Hancock
- WL Benedict
- WL Lillie
- WL Lillie
- WL Lillier
- WM Feldman
- Wo1now
- Wolffberg
- Wood
- Woods , W.
- WPC Zeeman
- WR Brain
- WR Gowers
- WR Parker
- Wright
- WS Symf
- WT Lister
- Wutso
- Wuttig
- Wölfflin
- Xilo
- Y Cao
- Y Hiriel
- Y Hiriel
- Y Kuwahara
- Y Yoshida
- Z Toth
- Zanotti
- Zeeman
- Zimmermann
- Zirm
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1944
- Field of study