Insights on the evolution of prolyl 3-hydroxylation sites from comparative analysis of chicken and Xenopus fibrillar collagens.

by David M Hudson, Maryann Weis, David R Eyre
Published 2011-05-01

Evolutionary origins of C-terminal (GPP)n 3-hydroxyproline formation in vertebrate tendon collagen.

by David M Hudson, Rachel Werther, MaryAnn Weis, Jiann-Jiu Wu, David R Eyre
Published 2014-01-01

Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

by Charlotte Gistelinck, MaryAnn Weis, Jyoti Rai, Ulrike Schwarze, Dmitriy Niyazov, Kit M Song, Peter H Byers, David R Eyre
Published 2021-03-01

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

Generalized connective tissue disease in Crtap-/- mouse.

by Dustin Baldridge, Jennifer Lennington, MaryAnn Weis, Erica P Homan, Ming-Ming Jiang, Elda Munivez, Douglas R Keene, William R Hogue, Shawna Pyott, Peter H Byers, Deborah Krakow, Daniel H Cohn, David R Eyre, Brendan Lee, Roy Morello
Published 2010-05-01

Tendon and motor phenotypes in the Crtap-/- mouse model of recessive osteogenesis imperfecta

by Matthew William Grol, Nele A Haelterman, Joohyun Lim, Elda M Munivez, Marilyn Archer, David M Hudson, Sara F Tufa, Douglas R Keene, Kevin Lei, Dongsu Park, Cole D Kuzawa, Catherine G Ambrose, David R Eyre, Brendan H Lee
Published 2021-05-01

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

Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation.

by Melissa E Heard, Roberta Besio, MaryAnn Weis, Jyoti Rai, David M Hudson, Milena Dimori, Sarah M Zimmerman, Jeffrey A Kamykowski, William R Hogue, Frances L Swain, Marie S Burdine, Samuel G Mackintosh, Alan J Tackett, Larry J Suva, David R Eyre, Roy Morello
Published 2016-04-01

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