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Select item 40725931.

Abnormal Type I Collagen Post-translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta

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

PLoS Genet. 2014 Jun; 10(6): e1004465. Published online 2014 Jun 26. doi: 10.1371/journal.pgen.1004465

PMCID:: PMC4072593

Abstract Article PDF–1.9M

Select item 55847322.

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

Assunta Gagliardi, Roberta Besio, Chiara Carnemolla, Claudia Landi, Alessandro Armini, Mona Aglan, Ghada Otaify, Samia A. Temtamy, Antonella Forlino, Luca Bini, Laura Bianchi

J Proteomics. 2017 Sep 7; 167: 46–59. doi: 10.1016/j.jprot.2017.08.007

PMCID:: PMC5584732

Abstract Article

Select item 95755713.

Current concepts in fracture healing: temporal dynamization and applications for additive manufacturing—Erratum

OTA Int. 2022 Sep; 5(3): e211. Published online 2022 Jul 11. doi: 10.1097/OI9.0000000000000211

Corrects:: OTA Int. 2022 Mar; 5(1 Suppl): e164.

PMCID:: PMC9575571

Correction PDF–183K

Select item 95497044.

Accelerated Aging in Cyclophilin B–Deficient Mice Downstream of p21‐Cip1/Waf1

Ying Zhang, Robert J. Pignolo, Richard J. Bram

JBMR Plus. 2022 Oct; 6(10): e10674. Published online 2022 Sep 9. doi: 10.1002/jbm4.10674

PMCID:: PMC9549704

Abstract Article PDF–3.6M

Select item 85116355.

A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX

Wenting Zhu, Kai Yan, Xijing Chen, Wei Zhao, Yiqing Wu, Huanna Tang, Ming Chen, Jian Wu, Pengpeng Wang, Runju Zhang, Yiping Shen, Dan Zhang

Front Genet. 2021; 12: 717294. Published online 2021 Sep 29. doi: 10.3389/fgene.2021.717294

PMCID:: PMC8511635

Abstract Article PDF–1.1M

Select item 79970976.

The AOSpine thoracolumbar spine injury classification system: A comparative study with the thoracolumbar injury classification system and severity score in children: Erratum

OTA Int. 2019 Dec; 2(4): e051. Published online 2019 Dec 13. doi: 10.1097/OI9.0000000000000051

Corrects:: OTA Int. 2019 Dec; 2(4): e036.

PMCID:: PMC7997097

Correction PDF–157K

Select item 79970847.

Funding and Institutional Review Board/Ethics Approval Statements: Erratum

OTA Int. 2019 Dec; 2(4): e063. Published online 2019 Dec 27. doi: 10.1097/OI9.0000000000000063

Corrects:: OTA Int. 2019 Dec; 2(4): e023.

Corrects:: OTA Int. 2019 Dec; 2(4): e029.

Corrects:: OTA Int. 2019 Dec; 2(4): e036.

Corrects:: OTA Int. 2019 Dec; 2(4): e040.

Corrects:: OTA Int. 2019 Dec; 2(4): e041.

PMCID:: PMC7997084

Correction PDF–160K

Select item 79970838.

Bifocal treatment for peri-articular femoral nonunions: A retrospective case series review: Erratum

OTA Int. 2019 Dec; 2(4): e052. Published online 2019 Dec 4. doi: 10.1097/OI9.0000000000000052

Corrects:: OTA Int. 2019 Dec; 2(4): e023.

PMCID:: PMC7997083

Correction PDF–154K

Select item 72779769.

Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound

Ting-Yu Chang, I-Fang Chung, Wan-Ju Wu, Shun-Ping Chang, Wen-Hsiang Lin, Norman A. Ginsberg, Gwo-Chin Ma, Ming Chen

Diagnostics (Basel) 2020 May; 10(5): 286. Published online 2020 May 7. doi: 10.3390/diagnostics10050286

PMCID:: PMC7277976

Abstract Article PDF–5.7M

Select item 676821010.

LysR-type transcriptional regulator OvrB encoded in O island 9 drives enterohemorrhagic Escherichia coli O157:H7 virulence

Yutao Liu, Bin Liu, Pan Yang, Ting Wang, Zhanhe Chang, Junyue Wang, Qian Wang, Wendi Li, Jialin Wu, Di Huang, Lingyan Jiang, Bin Yang

Virulence. 2019; 10(1): 783–792. Published online 2019 Sep 10. doi: 10.1080/21505594.2019.1661721

PMCID:: PMC6768210

Abstract Article PDF–2.5M

Select item 323450911.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Fleur S van Dijk, Peter H Byers, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik A Sistermans, Gerard Pals

Eur J Hum Genet. 2012 Jan; 20(1): 11–19. Published online 2011 Aug 10. doi: 10.1038/ejhg.2011.141

PMCID:: PMC3234509

Abstract Article PDF–495K

Select item 311096012.

Genetic evaluation of suspected osteogenesis imperfecta (OI)

Peter H. Byers, Deborah Krakow, Mark E. Nunes, Melanie Pepin

Version 1. Genet Med. 2006 Jun; 8(6): 383–388. doi: 10.1097/01.gim.0000223557.54670.aa

PMCID:: PMC3110960

Abstract Article PDF–116K

Select item 347073813.

Absence of FKBP10 in Recessive Type XI Osteogenesis Imperfecta Leads to Diminished Collagen Cross-Linking and Reduced Collagen Deposition in Extracellular Matrix

Aileen M. Barnes, Wayne A. Cabral, MaryAnn Weis, Elena Makareeva, Edward L. Mertz, Sergey Leikin, David Eyre, Carlos Trujillo, Joan C. Marini

Hum Mutat. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Hum Mutat. 2012 Nov; 33(11): 1589–1598. Published online 2012 Jul 16. doi: 10.1002/humu.22139

PMCID:: PMC3470738

Abstract Article PDF–1.2M

Select item 1119860814.

Cranio-Cervical Abnormalities in Moderate to Severe Osteogenesis Imperfecta – Genotypic and Phenotypic Determinants

Juliana Marulanda, Jean-Marc Retrouvey, Brendan Lee, V. Reid Sutton, Members of the BBD Consortium, Frank Rauch, Michelle Briner

Orthod Craniofac Res. Author manuscript; available in PMC 2024 Jun 25.

Published in final edited form as: Orthod Craniofac Res. 2024 Apr; 27(2): 237–243. Published online 2023 Aug 29. doi: 10.1111/ocr.12707

PMCID:: PMC11198608

Abstract Article PDF–313K

Select item 1118051215.

Efficacy and Safety of Denosumab vs Zoledronic Acid in OI Adults: A Prospective, Open-Label, Randomized Study

Xiaoyun Lin, Jing Hu, Bingna Zhou, Xiaojie Wang, Qian Zhang, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing, Mei Li

J Clin Endocrinol Metab. 2024 Jul; 109(7): 1873–1882. Published online 2024 Jan 5. doi: 10.1210/clinem/dgae012

PMCID:: PMC11180512

Abstract Article

Select item 1118051116.

Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants

Bingna Zhou, Peng Gao, Jing Hu, Xiaoyun Lin, Lei Sun, Qian Zhang, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing, Mei Li

J Clin Endocrinol Metab. 2024 Jul; 109(7): 1803–1813. Published online 2024 Jan 12. doi: 10.1210/clinem/dgae025

PMCID:: PMC11180511

Abstract Article

Select item 1115205817.

Antagonism Between PEDF and TGF-β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis

Heeseog Kang, Smriti Aryal AC, Aileen M Barnes, Aline Martin, Valentin David, Susan E Crawford, Joan C Marini

J Bone Miner Res. Author manuscript; available in PMC 2024 Jun 5.

Published in final edited form as: J Bone Miner Res. 2022 May; 37(5): 925–937. Published online 2022 Apr 13. doi: 10.1002/jbmr.4540

PMCID:: PMC11152058

Abstract Article PDF–1.8M

Select item 1115133418.

Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities

Bernadette R Gochuico, Mahin Hossain, Sara K Talvacchio, Mei Xing G Zuo, Mark Barton, An Ngoc Dang Do, Joan C Marini

J Med Genet. Author manuscript; available in PMC 2024 Jun 5.

Published in final edited form as: J Med Genet. 2023 Nov; 60(11): 1067–1075. Published online 2023 May 16. doi: 10.1136/jmg-2022-109009

PMCID:: PMC11151334

Abstract Article PDF–1.2M

Select item 1112356619.

CaMKII inhibition due to TRIC-B loss-of-function dysregulates SMAD signalling in osteogenesis imperfecta

Roberta Besio, Barbara M. Contento, Nadia Garibaldi, Marta Filibian, Stephan Sonntag, Doron Shmerling, Francesca Tonelli, Marco Biggiogera, Marisa Brini, Andrea Salmaso, Milena Jovanovic, Joan C. Marini, Antonio Rossi, Antonella Forlino

Matrix Biol. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Matrix Biol. 2023 Jun; 120: 43–59. Published online 2023 May 11. doi: 10.1016/j.matbio.2023.05.002

PMCID:: PMC11123566

Abstract Article PDF–2.6M

Select item 1110701820.

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle

Julien Corbeau, Cécile Grohs, Jeanlin Jourdain, Mekki Boussaha, Florian Besnard, Anne Barbat, Vincent Plassard, Julie Rivière, Christophe Hamelin, Jeremy Mortier, Didier Boichard, Raphaël Guatteo, Aurélien Capitan

Genet Sel Evol. 2024; 56: 39. Published online 2024 May 21. doi: 10.1186/s12711-024-00909-3