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		题名	作者	年代	出处	被引量
	1	The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease显示文摘	Holm H. Uhlig Tobias Schwerd Sibylle Koletzko Neil Shah Jochen Kammermeier Abdul Elkadri Jodie Ouahed David C. Wilson Simon P. Travis Dan Turner Christoph Klein Scott B. Snapper Aleixo M. Muise	2014	Gastroenterology2014，，：	3
	2	Cerebral blood flow velocity and inflammatory response after severe traumatic brain injury显示文摘	Muller M Schwerd tfger K Maier B	2001	European Journal of Ultrasound2001，12，：	1
	3	5'-triphosphate RNA requires base-paired structures to activate antiviral signaling via RIG-I 显示文摘	Schmidt A Schwerd T Hamm W	2009	Proc Natl Acad Sci USA2009，106，12：	1
	4	Cerebral blood flow velocity and inflammatory response after severe traumatic brain injury显示文摘	Muller M Schwerd tfger K Maier B	2001	European Journal of ultrasound2001，12，：	1
	5	A variant in IL6ST with a selective IL-11 signaling defect in human and mouse显示文摘The GP130 cytokine receptor subunit encoded by IL6ST is the shared receptor for ten cytokines of the IL-6 family. We describe a homozygous non-synonymous variant in IL6 ST(p.R281 Q) in a patient with craniosynostosis and retained deciduous teeth. We characterize the impact of the variant on cytokine signaling in vitro using transfected cell lines as well as primary patient-derived cells and support these findings using a mouse model with the corresponding genome-edited variant Il6 st p.R279 Q. We show that human GP130 p.R281 Q is associated with selective loss of IL-11 signaling without affecting IL-6, IL-27, OSM, LIF, CT1, CLC, and CNTF signaling. In mice Il6 st p.R279 Q lowers litter size and causes facial synostosis and teeth abnormalities. The effect on IL-11 signaling caused by the GP130 variant shows incomplete penetrance but phenocopies aspects of IL11 RA deficiency in humans and mice. Our data show that a genetic variant in a pleiotropic cytokine receptor can have remarkably selective defects.	Tobias Schwerd Freia Krause Stephen R.F.Twigg Dominik Aschenbrenner Yin-Huai Chen Uwe Borgmeyer Miryam Müller Santiago Manrique Neele Schumacher Steven A.Wall Jonathan Jung Timo Damm Claus-Christian Glüer Jürgen Scheller Stefan Rose-John E.Yvonne Jones Arian Laurence Andrew O.M.Wilkie Dirk Schmidt-Arras Holm H.Uhlig	2020	Bone Research2020，8，2：	0

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