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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 95497043.

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 85116354.

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 95755715.

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 79970836.

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 32345097.

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 72779768.

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 31109609.

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 799708410.

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 799709711.

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 676821012.

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 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 377053414.

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations

Aileen M. Barnes, Geraldine Duncan, MaryAnn Weis, William Paton, Wayne A. Cabral, Edward L. Mertz, Elena Makareeva, Michael J. Gambello, Felicitas L. Lacbawan, Sergey Leikin, Andrzej Fertala, David R. Eyre, Sherri J. Bale, Joan C. Marini

Hum Mutat. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Hum Mutat. 2013 Sep; 34(9): 1279–1288. Published online 2013 Jul 8. doi: 10.1002/humu.22362

PMCID:: PMC3770534

Abstract Article PDF–4.7M

Select item 382024215.

Embryonic ablation of osteoblast Smad4 interrupts matrix synthesis in response to canonical Wnt signaling and causes an osteogenesis-imperfecta-like phenotype

Valerie S. Salazar, Nicholas Zarkadis, Lisa Huang, Jin Norris, Susan K. Grimston, Gabriel Mbalaviele, Roberto Civitelli

J Cell Sci. 2013 Nov 1; 126(21): 4974–4984. doi: 10.1242/jcs.131953

PMCID:: PMC3820242

Abstract Article

Select item 380474916.

Determination of mesenchymal stem cell fate by pigment epithelium-derived factor (PEDF) results in increased adiposity and reduced bone mineral content

Arijeet K. Gattu, E. Scott Swenson, Yasuko Iwakiri, Varman T. Samuel, Nancy Troiano, Ryan Berry, Christopher D. Church, Matthew S. Rodeheffer, Thomas O. Carpenter, Chuhan Chung

FASEB J. 2013 Nov; 27(11): 4384–4394. doi: 10.1096/fj.13-232900

PMCID:: PMC3804749

Abstract Article

Select item 380050117.

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene

Monica Grover, Philippe M. Campeau, Caressa Dee Lietman, James T. Lu, Richard A. Gibbs, Alan E. Schlesinger, Brendan H. Lee

J Bone Miner Res. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: J Bone Miner Res. 2013 Nov; 28(11): 2333–2337. doi: 10.1002/jbmr.1983

PMCID:: PMC3800501

Abstract Article PDF–942K

Select item 378654318.

Osteogenesis Imperfecta Due to Compound Heterozygosity for the LEPRE1 Gene

Adrienne Moul, Amanda Alladin, Cristina Navarrete, George Abdenour, Maria M. Rodriguez

Fetal Pediatr Pathol. 2013 Oct 1; 32(5): 319–325. Published online 2013 Jan 10. doi: 10.3109/15513815.2012.754528

PMCID:: PMC3786543

Abstract Article PDF–4.9M

Select item 372582119.

Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

Víctor Martínez-Glez, Maria Valencia, José A. Caparrós-Martín, Mona Aglan, Samia Temtamy, Jair Tenorio, Veronica Pulido, Uschi Lindert, Marianne Rohrbach, David Eyre, Cecilia Giunta, Pablo Lapunzina, Victor L. Ruiz-Perez

Hum Mutat. Author manuscript; available in PMC 2013 Jul 29.

Published in final edited form as: Hum Mutat. 2012 Feb; 33(2): 343–350. Published online 2011 Nov 30. doi: 10.1002/humu.21647