Publications by authors named "Joan C Marini"

90 Publications

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

JBMR Plus 2019 Aug 26;3(8):e10214. Epub 2019 Jul 26.

Clinical and Investigative Orthopedics Surgery Unit National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH Bethesda MD USA.

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August 2019

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Bone 2020 01 28;130:115047. Epub 2019 Aug 28.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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January 2020

Sclerostin Antibody-Induced Changes in Bone Mass Are Site Specific in Developing Crania.

J Bone Miner Res 2019 12 7;34(12):2301-2310. Epub 2019 Nov 7.

Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, MI, USA.

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December 2019

Melorheostosis: A Clinical, Pathologic, and Radiologic Case Series.

Am J Surg Pathol 2019 11;43(11):1554-1559

Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases.

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November 2019

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.

FEBS J 2019 08 5;286(15):3033-3056. Epub 2019 Jul 5.

Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Italy.

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August 2019

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

PLoS Genet 2019 06 7;15(6):e1008196. Epub 2019 Jun 7.

Oral and Craniofacial Health Sciences, School of Dentistry, University of North Carolina, Chapel Hill, North Carolina, United States of America.

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June 2019

COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing.

Biochim Biophys Acta Mol Basis Dis 2019 09 2;1865(9):2210-2223. Epub 2019 May 2.

Section of Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, MD, United States of America. Electronic address:

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September 2019

Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.

J Bone Miner Res 2019 05 22;34(5):883-895. Epub 2019 Jan 22.

Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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May 2019

Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.

J Bone Miner Res 2019 01 14;34(1):145-156. Epub 2018 Sep 14.

Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, USA.

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January 2019

Somatic activating mutations in MAP2K1 cause melorheostosis.

Nat Commun 2018 04 11;9(1):1390. Epub 2018 Apr 11.

Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.

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April 2018

4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion.

Biochim Biophys Acta Mol Basis Dis 2018 May 10;1864(5 Pt A):1642-1652. Epub 2018 Feb 10.

Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia 27100, Italy. Electronic address:

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May 2018

Cyclophilin B Deficiency Causes Abnormal Dentin Collagen Matrix.

J Proteome Res 2017 08 25;16(8):2914-2923. Epub 2017 Jul 25.

Oral and Craniofacial Health Sciences, School of Dentistry, University of North Carolina , Chapel Hill, North Carolina 27599, United States.

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August 2017

Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.

Transl Res 2017 03 19;181:27-48. Epub 2016 Nov 19.

Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Md. Electronic address:

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March 2017

Single dose of bisphosphonate preserves gains in bone mass following cessation of sclerostin antibody in Brtl/+ osteogenesis imperfecta model.

Bone 2016 12 15;93:79-85. Epub 2016 Sep 15.

University of Michigan Department of Orthopaedic Surgery, Ann Arbor, MI, United States; University of Michigan Department of Biomedical Engineering, Ann Arbor, MI, United States. Electronic address:

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December 2016

PrP-containing aggresomes are cytosolic components of an ER quality control mechanism.

J Cell Sci 2016 10 22;129(19):3635-3647. Epub 2016 Aug 22.

Biochemistry and Molecular Biology, the Institute for Medical Research Israel - Canada (IMRIC), the School of Medicine of the Hebrew University of Jerusalem, Jerusalem 91120, Israel

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October 2016

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.

J Clin Endocrinol Metab 2016 09 6;101(9):3516-25. Epub 2016 Jul 6.

Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of Wiener Gebietskrankenkasse and Allgemeine Unfallversicherungsanstalt Trauma Centre Meidling (N.F.-Z., P.R., K.K.), First Medical Department, Hanusch Hospital, 1140 Vienna, Austria; Section on Heritable Disorders of Bone (A.M.B., W.C., J.C.M.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; The Orthopaedic Research Laboratories (M.W., D.R.E.), University of Washington, Seattle, Washington 98195; Hospital for Special Surgery (E.C., G.P., C.R.), New York, New York 10021; Department of Orthopedics (T.E.H.), Mayo Clinic College of Medicine, Rochester, Minnesota 55905; Shriners Hospital for Children (P.A.S.), Chicago, Illinois 60707; and Shriners Hospital for Children and McGill University (F.H.G., F.R.), Montreal, QC H4A 0A9, Canada.

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September 2016

Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta.

Bone 2016 06 13;87:120-9. Epub 2016 Apr 13.

Weill Cornell Medical College, New York, NY, United States; Mineralized Tissues Laboratory, Hospital for Special Surgery, New York, NY, United States. Electronic address:

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June 2016

Effect of anti-sclerostin therapy and osteogenesis imperfecta on tissue-level properties in growing and adult mice while controlling for tissue age.

Bone 2016 Mar 6;84:222-229. Epub 2016 Jan 6.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan Ann Arbor, MI, USA; Department of Biomedical Engineering, University of Michigan Ann Arbor, MI, USA. Electronic address:

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March 2016