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The Journal of Clinical Investigation|April 21, 2005
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expressionMichael Niedermaier, Georg C Schwabe, Stephan Fees, et al.
Nutrients|July 26, 2020
Selenium Deficiency Is Associated with Mortality Risk from COVID-19Arash Moghaddam, Raban Arved Heller, Qian Sun, et al.
Human Molecular Genetics|May 24, 2014
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variantJulia Haupt, Alexandra Deichsel, Katja Stange, et al.
The Journal of Clinical Investigation|August 30, 2005
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2Petra Seemann, Raphaela Schwappacher, Klaus W Kjaer, et al.
Bone|December 28, 2014
Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndromeElisa Degenkolbe, Carolin Schwarz, Claus-Eric Ott, et al.
Plos Genetics|October 8, 2013
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2Elisa Degenkolbe, Jana König, Julia Zimmer, et al.
Redox Biology|October 30, 2020
Prediction of survival odds in COVID-19 by zinc, age and selenoprotein P as composite biomarkerRaban Arved Heller, Qian Sun, Julian Hackler, et al.
American Journal of Human Genetics|February 23, 2010
Deletion and point mutations of PTHLH cause brachydactyly type EEva Klopocki, Bianca P Hennig, Katarina Dathe, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeLuitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, et al.
Redox Biology|July 9, 2023
Autoantibodies to selenoprotein P in chronic fatigue syndrome suggest selenium transport impairment and acquired resistance to thyroid hormoneQian Sun, Elisa Oltra, D A Janneke Dijck-Brouwer, et al.
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