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Biochimica Et Biophysica Acta|January 28, 2009
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxaMailys Guillard, Aikaterini Dimopoulou, Björn Fischer, et al.Inflammation|June 23, 2019
Therapeutic Effects of Mesenchymal Stem Cells Derived From Bone Marrow, Umbilical Cord Blood, and Pluripotent Stem Cells in a Mouse Model of Chemically Induced Inflammatory Bowel DiseaseArgyro Kagia, Maria Tzetis, Emmanuel Kanavakis, et al.American Journal of Medical Genetics. Part A|July 9, 2011
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)David L Skidmore, David Chitayat, Tim Morgan, et al.Nature Genetics|December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.Human Molecular Genetics|March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalVishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.Pageof 1