Joan C Marini

Joan C Marini

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Joan C Marini

Publications by authors named "Joan C Marini"

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

Bone 2020 Jan 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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http://dx.doi.org/10.1016/j.bone.2019.115047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945817PMC
January 2020

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

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

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

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http://dx.doi.org/10.1002/jbmr.3858DOI Listing
December 2019

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

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

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

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http://dx.doi.org/10.1097/PAS.0000000000001310DOI Listing
November 2019

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

Biochim Biophys Acta Mol Basis Dis 2019 Sep 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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http://dx.doi.org/10.1016/j.bbadis.2019.04.018DOI Listing
September 2019

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

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

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

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http://dx.doi.org/10.1111/febs.14963DOI Listing
August 2019

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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http://dx.doi.org/10.1002/jbm4.10214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715778PMC
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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http://dx.doi.org/10.1371/journal.pgen.1008196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602281PMC
June 2019

Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen.

Genet Med 2019 05 1;21(5):1233-1239. Epub 2018 Oct 1.

Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41436-018-0307-yDOI Listing
May 2019

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

J Bone Miner Res 2019 May 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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http://doi.wiley.com/10.1002/jbmr.3656
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http://dx.doi.org/10.1002/jbmr.3656DOI Listing
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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http://doi.wiley.com/10.1002/jbmr.3577
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http://dx.doi.org/10.1002/jbmr.3577DOI Listing
January 2019

Low Dose of Bisphosphonate Enhances Sclerostin Antibody-Induced Trabecular Bone Mass Gains in Brtl/+ Osteogenesis Imperfecta Mouse Model.

J Bone Miner Res 2018 07 7;33(7):1272-1282. Epub 2018 May 7.

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

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http://dx.doi.org/10.1002/jbmr.3421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084801PMC
July 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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http://dx.doi.org/10.1016/j.bbadis.2018.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908783PMC
May 2018

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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http://dx.doi.org/10.1038/s41467-018-03720-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895796PMC
April 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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http://dx.doi.org/10.1021/acs.jproteome.7b00190DOI Listing
August 2017

Osteogenesis imperfecta.

Nat Rev Dis Primers 2017 Aug 18;3:17052. Epub 2017 Aug 18.

Children's Hospital, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/nrdp.2017.52DOI Listing
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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http://dx.doi.org/10.1016/j.trsl.2016.11.005DOI Listing
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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5077648PMC
http://dx.doi.org/10.1016/j.bone.2016.09.013DOI Listing
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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http://dx.doi.org/10.1242/jcs.186981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518310PMC
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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http://dx.doi.org/10.1210/jc.2016-1334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010570PMC
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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http://dx.doi.org/10.1016/j.bone.2016.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862917PMC
June 2016

Osteogenesis imperfecta.

Lancet 2016 Apr 3;387(10028):1657-71. Epub 2015 Nov 3.

Bone and Extracellular Matrix Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01406736150072
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http://dx.doi.org/10.1016/S0140-6736(15)00728-XDOI Listing
April 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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http://dx.doi.org/10.1016/j.bone.2016.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757447PMC
March 2016

Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.

EMBO J 2015 Nov 5;34(22):2820-39. Epub 2015 Oct 5.

Biochemistry and Molecular Biology, The Institute for Medical Research Israel - Canada (IMRIC), The Hebrew University Medical School, Jerusalem, Israel

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http://dx.doi.org/10.15252/embj.201592042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682640PMC
November 2015

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.

J Clin Endocrinol Metab 2015 Feb 11;100(2):E325-32. Epub 2014 Nov 11.

Bone and Extracellular Matrix Branch (A.R., A.S.B., A.M.B., W.A.C., J.C.M.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Department of Diagnostic Radiology (S.C.H.), National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Physiology and Experimental Medicine Program (A.H.), Heart Center, Hospital for Sick Children, University of Toronto, Ontario, Canada M5S 3OA4; Division of Diagnostic Imaging (J.S.), Department of Pediatrics, and Division of Clinical and Metabolic Genetics (D.C.), Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada M5G 1X8; and The Prenatal Diagnosis and Medical Genetics Program (D.C.), Department of Obstetrics and Gynecology, Mt Sinai Hospital, University of Toronto, Toronto, Ontario, Canada M5G 1Z5.

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http://dx.doi.org/10.1210/jc.2014-3082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318905PMC
February 2015

Rapidly growing Brtl/+ mouse model of osteogenesis imperfecta improves bone mass and strength with sclerostin antibody treatment.

Bone 2015 Feb 23;71:115-23. Epub 2014 Oct 23.

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

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http://dx.doi.org/10.1016/j.bone.2014.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274252PMC
February 2015

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.

Curr Opin Pediatr 2014 Aug;26(4):500-7

Bone and Extracellular Matrix Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183132PMC
August 2014

Mineral and matrix changes in Brtl/+ teeth provide insights into mineralization mechanisms.

Biomed Res Int 2013 29;2013:295812. Epub 2013 May 29.

Musculoskeletal Integrity Program, Hospital for Special Surgery, New York, NY 10021, USA.

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http://dx.doi.org/10.1155/2013/295812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681234PMC
December 2013

New genes in bone development: what's new in osteogenesis imperfecta.

J Clin Endocrinol Metab 2013 Aug 14;98(8):3095-103. Epub 2013 Jun 14.

Bone and Extracellular Matrix Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2013-1505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733862PMC
August 2013

Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta.

J Bone Miner Res 2013 Jan;28(1):73-80

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

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http://dx.doi.org/10.1002/jbmr.1717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3524379PMC
January 2013

Effects of tissue hydration on nanoscale structural morphology and mechanics of individual Type I collagen fibrils in the Brtl mouse model of Osteogenesis Imperfecta.

J Struct Biol 2012 Dec 4;180(3):428-38. Epub 2012 Oct 4.

Department of Biomedical Engineering, Indiana University-Purdue University at Indianapolis, Indianapolis, IN, USA.

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http://dx.doi.org/10.1016/j.jsb.2012.09.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3685442PMC
December 2012

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

Hum Mutat 2012 Nov 16;33(11):1589-98. Epub 2012 Jul 16.

Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/humu.22139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470738PMC
November 2012

Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach.

J Proteomics 2012 Aug 18;75(15):4717-33. Epub 2012 Feb 18.

Functional Proteomics Lab., Department of Biotechnology, Section of Biochemistry and Molecular Biology, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.jprot.2012.01.038DOI Listing
August 2012

Replenishing cartilage from endogenous stem cells.

N Engl J Med 2012 Jun;366(26):2522-4

Bone and Extracellular Matrix Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1056/NEJMcibr1204283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320687PMC
June 2012

New perspectives on osteogenesis imperfecta.

Nat Rev Endocrinol 2011 Jun 14;7(9):540-57. Epub 2011 Jun 14.

Department of Biochemistry, Section of Medicine and Pharmacy, University of Pavia, Italy.

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http://dx.doi.org/10.1038/nrendo.2011.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443407PMC
June 2011

Nanoscale morphology of Type I collagen is altered in the Brtl mouse model of Osteogenesis Imperfecta.

J Struct Biol 2011 Jan 7;173(1):146-52. Epub 2010 Aug 7.

Department of Chemistry, University of Michigan, Ann Arbor, MI 48109-1055, United States.

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http://dx.doi.org/10.1016/j.jsb.2010.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2997118PMC
January 2011

Near-infrared fluorescent probe traces bisphosphonate delivery and retention in vivo.

J Bone Miner Res 2010 Aug;25(8):1748-58

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

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http://dx.doi.org/10.1002/jbmr.66DOI Listing
August 2010

Obese carboxypeptidase E knockout mice exhibit multiple defects in peptide hormone processing contributing to low bone mineral density.

Am J Physiol Endocrinol Metab 2010 Aug 11;299(2):E189-97. Epub 2010 May 11.

Section on Cellular Neurobiology, Program on Developmental Neuroscience,Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 49 Convent Dr., Bethesda, MD 20892, USA.

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http://www.physiology.org/doi/10.1152/ajpendo.00516.2009
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http://dx.doi.org/10.1152/ajpendo.00516.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928512PMC
August 2010

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.

N Engl J Med 2010 Feb 20;362(6):521-8. Epub 2010 Jan 20.

National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1056/NEJMoa0907705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156560PMC
February 2010

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.

Hum Mol Genet 2010 Jan 21;19(2):223-34. Epub 2009 Oct 21.

Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddp481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796888PMC
January 2010

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.

Cell Tissue Res 2010 Jan 28;339(1):59-70. Epub 2009 Oct 28.

Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, MD 20892, USA.

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http://link.springer.com/content/pdf/10.1007/s00441-009-0872
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http://link.springer.com/10.1007/s00441-009-0872-0
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http://dx.doi.org/10.1007/s00441-009-0872-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156555PMC
January 2010

Bone: Use of bisphosphonates in children-proceed with caution.

Authors:
Joan C Marini

Nat Rev Endocrinol 2009 May;5(5):241-3

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http://dx.doi.org/10.1038/nrendo.2009.58DOI Listing
May 2009

Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.

Am J Med Genet A 2008 Nov;146A(21):2725-32

Bone and Extracellular Matrix Branch, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.32508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320686PMC
November 2008

Mapping of SPARC/BM-40/osteonectin-binding sites on fibrillar collagens.

J Biol Chem 2008 Jul 16;283(28):19551-60. Epub 2008 May 16.

Max-Planck-Institut für Biochemie, Am Klopferspitz 18, 82152 Martinsried, Germany.

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http://dx.doi.org/10.1074/jbc.M710001200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443679PMC
July 2008

Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta.

J Biol Chem 2008 Feb 11;283(8):4787-98. Epub 2007 Dec 11.

Section on Physical Biochemistry, Bone and Extracellular Matrix Branch, NICHD, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1074/jbc.M705773200DOI Listing
February 2008

Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI.

Matrix Biol 2007 Oct 27;26(8):604-14. Epub 2007 Jun 27.

Department of Biochemistry "A. Castellani", University of Pavia, Via Taramelli 3B, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.matbio.2007.06.005DOI Listing
October 2007

Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

Cell Cycle 2007 Jul 18;6(14):1675-81. Epub 2007 May 18.

Bone and Extracellular Matrix Branch, The National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://www.tandfonline.com/doi/abs/10.4161/cc.6.14.4474
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http://dx.doi.org/10.4161/cc.6.14.4474DOI Listing
July 2007

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Nat Genet 2007 Mar 4;39(3):359-65. Epub 2007 Feb 4.

Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/ng1968DOI Listing
March 2007

Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.

J Biol Chem 2006 Mar 5;281(10):6463-70. Epub 2006 Jan 5.

Section on Physical Biochemistry, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1074/jbc.M511830200DOI Listing
March 2006

Should children with osteogenesis imperfecta be treated with bisphosphonates?

Authors:
Joan C Marini

Nat Clin Pract Endocrinol Metab 2006 Jan;2(1):14-5

Bone and Extracellular Matrix Branch, National Institute of Child Heath and Disease, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1038/ncpendmet0075DOI Listing
January 2006

Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

J Biol Chem 2005 May 22;280(19):19259-69. Epub 2005 Feb 22.

Bone and Extracellular Matrix Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1074/jbc.M414698200DOI Listing
May 2005

Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model.

Matrix Biol 2004 May;23(2):101-12

Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bldg. 9, Rm. 1E-127, Bethesda, MD 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S0945053X0400029
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http://dx.doi.org/10.1016/j.matbio.2004.03.002DOI Listing
May 2004

Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength.

J Bone Miner Res 2004 Apr 12;19(4):614-22. Epub 2004 Jan 12.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, Michigan 48109-0486, USA.

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http://dx.doi.org/10.1359/JBMR.040111DOI Listing
April 2004

High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.

Am J Hum Genet 2004 Apr 11;74(4):752-60. Epub 2004 Mar 11.

Section on Heritable Disorders of Bone, Bone and Extracellular Matrix Branch, National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1086/383252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181952PMC
April 2004

Do bisphosphonates make children's bones better or brittle?

Authors:
Joan C Marini

N Engl J Med 2003 Jul;349(5):423-6

Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md, USA.

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http://dx.doi.org/10.1056/NEJMp038103DOI Listing
July 2003

Temperament and physical performance in children with osteogenesis imperfecta.

Pediatrics 2003 Feb;111(2):E153-61

Cincinnati Children's Hospital Medical Center, University of Cincinnati Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1542/peds.111.2.e153DOI Listing
February 2003

Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology.

J Biol Chem 2002 Feb 8;277(6):4215-22. Epub 2001 Nov 8.

Section on Connective Tissue Disorders, Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1074/jbc.M109048200DOI Listing
February 2002