Studies of OI patient and murine osteoblasts to investigate phenotypic variability of dominant Osteogenesis Imperfecta

by Milena Jovanovic, Apratim Mitra, Chris Stephan, Kenneth Kozloff, Ryan Dale, Joan C. Marini
Published 2021-04-01

Mineral and Matrix Changes in Brtl/+ Teeth Provide Insights into Mineralization Mechanisms

by Adele L. Boskey, Kostas Verdelis, Lyudmila Spevak, Lyudmila Lukashova, Elia Beniash, Xu Yang, Wayne A. Cabral, Joan C. Marini
Published 2013-01-01

Atypical type VI Osteogenesis Imperfecta mouse models the intersection of IFITM5 and SERPINF1 pathways in patients

by Gali Guterman-Ram, Ghazal Hedjazi, Chris Stephan, Stéphane Blouin, Jochen Zwerina, Kenneth M. Kozloff, Nadja Fratzl-Zelman, Joan C. Marini
Published 2021-04-01

Bone tissue in murine atypical type VI osteogenesis imperfecta has changes in vascular pores and matrix organization, plus classic OI hypermineralization

by Ghazal Hedjazi, Gali Guterman-Ram, Stéphane Blouin, Paul Roschger, Victoria Schemenz, Wolfgang Wagermaier, Peter Fratzl, Jochen Zwerina, Nadja Fratzl-Zelman, Joan C. Marini
Published 2020-10-01

New Ifitm5 S42L mouse model for atypical type VI OI connects types V and VI Osteogenesis Imperfecta

by Gali Guterman-Ram, Ghazal Hedjazi, Chris Stephan, Stéphane Blouin, Paul Roschger, Klaus Klaushofer, Jochen Zwerina, Kenneth M. Kozloff, Nadja Fratzl-Zelman, Joan C. Marini
Published 2020-10-01

Novel murine model of atypical type VI osteogenesis imperfecta has altered osteocyte canalicular network, disordered collagen orientation along with hypermineralization of bone mat...

by Ghazal Hedjazi, Gali Guterman-Ram, Stéphane Blouin, Markus A. Hartmann, Victoria Schemenz, Wolfgang Wagermaier, Peter Fratzl, Jochen Zwerina, Nadja Fratzl-Zelman, Joan C. Marini
Published 2021-04-01

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

by Masaki Takagi, Tomohiro Ishii, Aileen M Barnes, Maryann Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R Eyre, Joan C Marini, Tomonobu Hasegawa
Published 2012-01-01

Bone tissue and osteoblasts from X-linked type XVIII OI with defects in regulated intramembrane proteolysis have distinct features

by Allahdad Zarei, Nadja Fratzl-Zelman, An Dang Do, Megan Glassford, Mark Hannibal, Maegan Wallace, Paul W. Esposito, Kristin Lindstrom, Jochen Zwerina, Marianne Knue, Sara Talvacchio, Joan.C. Marini
Published 2021-04-01

Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study

by Smita Jha, Edward W Cowen, Tanya J Lehky, Katharine Alter, Lauren Flynn, James C Reynolds, Eileen Lange, James D Katz, Joan C Marini, Richard M Siegel, Timothy Bhattacharyya
Published 2019-08-01

Cyclophilin B control of lysine post-translational modifications of skin type I collagen.

by Masahiko Terajima, Yuki Taga, Wayne A Cabral, Ying Liu, Masako Nagasawa, Noriko Sumida, Yukako Kayashima, Prashant Chandrasekaran, Lin Han, Nobuyo Maeda, Irina Perdivara, Shunji Hattori, Joan C Marini, Mitsuo Yamauchi
Published 2019-06-01

Somatic activating mutations in MAP2K1 cause melorheostosis

by Heeseog Kang, Smita Jha, Zuoming Deng, Nadja Fratzl-Zelman, Wayne A. Cabral, Aleksandra Ivovic, Françoise Meylan, Eric P. Hanson, Eileen Lange, James Katz, Paul Roschger, Klaus Klaushofer, Edward W. Cowen, Richard M. Siegel, Joan C. Marini, Timothy Bhattacharyya
Published 2018-04-01

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.

by Wayne A Cabral, Irina Perdivara, MaryAnn Weis, Masahiko Terajima, Angela R Blissett, Weizhong Chang, Joseph E Perosky, Elena N Makareeva, Edward L Mertz, Sergey Leikin, Kenneth B Tomer, Kenneth M Kozloff, David R Eyre, Mitsuo Yamauchi, Joan C Marini
Published 2014-06-01

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.

by Wayne A Cabral, Masaki Ishikawa, Matthias Garten, Elena N Makareeva, Brandi M Sargent, MaryAnn Weis, Aileen M Barnes, Emma A Webb, Nicholas J Shaw, Leena Ala-Kokko, Felicitas L Lacbawan, Wolfgang Högler, Sergey Leikin, Paul S Blank, Joshua Zimmerberg, David R Eyre, Yoshihiko Yamada, Joan C Marini
Published 2016-07-01

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

by Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, Maryann Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena N. Makareeva, Andreas R. Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk
Published 2016-07-01