Aileen M Barnes

Aileen M Barnes

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Aileen M Barnes

Aileen M Barnes

Publications by authors named "Aileen M Barnes"

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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

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

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

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

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

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

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

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

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
Publisher Site
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

Netrin-1 and semaphorin 3A promote or inhibit cortical axon branching, respectively, by reorganization of the cytoskeleton.

J Neurosci 2004 Mar;24(12):3002-12

Department of Anatomy and Neuroscience Training Program, University of Wisconsin, Madison, Wisconsin 53706, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.4963-03.2004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6729836PMC
March 2004