osteosclerosis

Literature (4)

Literature for DOID 4254: osteosclerosis

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Essential roles of LEM-domain protein MAN1 during organogenesis in Xenopus laevis and overlapping functions of emerin., Reil M,Dabauvalle MC, Eur J Cell Biol. January 1, 2013; 92(8-9):0171-9335.
A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle., Sartelet A,Stauber T,Coppieters W,Ludwig CF,Fasquelle C,Druet T,Zhang Z,Zhang Z,Zhang Z,Ahariz N,Cambisano N,Jentsch TJ,Charlier C, Dis Model Mech. January 1, 2014; 7(1):1754-8411.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle., Sartelet A,Stauber T,Coppieters W,Ludwig CF,Fasquelle C,Druet T,Zhang Z,Zhang Z,Zhang Z,Ahariz N,Cambisano N,Jentsch TJ,Charlier C, Dis Model Mech. January 1, 2014; 7(1):1754-8411.