Litcius/Paper detail

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. Adamo, Aude Beyens, Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Mörgelin, Jürgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore Pottie, Laura Muiño Mosquera, Elif Yılmaz Güleç, Alper Gezdirici, Paola Braghetta, Paolo Bonaldo, Raimund Wagener, Mats Paulsson, Helen Bornaun, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Walter P. Devine, Balram Gangaram, Allison Tam, Meena Balasubramanian, Sian Ellard, Sandra Moore, Sofie Symoens, Joseph Shen, Stacey M. Cole, Ulrike Schwarze, Kathryn W. Holmes, Susan J. Hayflick, Wojciech Wiszniewski, Sheela Nampoothiri, Elaine C. Davis, Lynn Y. Sakai, Gerhard Sengle, Bert Callewaert

2022The American Journal of Human Genetics22 citationsDOIOpen Access PDF

Topics & Concepts

ElastinFibrillinFibrillogenesisMicrofibrilElastic fiberChemistryExtracellular matrixInternal medicinePathologyEndocrinologyAnatomyMedicineBiochemistryFibrilCelluloseConnective tissue disorders researchBone and Dental Protein StudiesProtease and Inhibitor Mechanisms