Beth A Kozel

Beth A Kozel

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Beth A Kozel

Beth A Kozel

Publications by authors named "Beth A Kozel"

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Elastic fiber ultrastructure and assembly.

Matrix Biol 2019 Nov 24;84:31-40. Epub 2019 Oct 24.

Department of Cell Biology and Physiology, Washington University School of Medicine, Campus Box 8228, 660 South Euclid Ave, St. Louis, MO, 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2019.10.002DOI Listing
November 2019

Mild macrocytosis in Williams-Beuren syndrome.

Eur J Med Genet 2019 Aug 14:103740. Epub 2019 Aug 14.

Frank H. Netter School of Medicine, Quinnipiac University, USA; Massachusetts General Hospital, USA; Harvard Medical School, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103740DOI Listing
August 2019

Elastin-driven genetic diseases.

Matrix Biol 2018 10 28;71-72:144-160. Epub 2018 Feb 28.

National Institutes of Health, National Heart Lung and Blood Institute, Bethesda, MD, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X173036
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http://dx.doi.org/10.1016/j.matbio.2018.02.021DOI Listing
October 2018

Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Mol Genet Genomic Med 2018 09 15;6(5):749-765. Epub 2018 Jul 15.

National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/mgg3.429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160704PMC
September 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genet Med 2017 09 2;19(9):1040-1048. Epub 2017 Mar 2.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2016.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581723PMC
September 2017

Effects of Obesity and Hypertension on Pulse Wave Velocity in Children.

J Clin Hypertens (Greenwich) 2017 Mar 11;19(3):221-226. Epub 2016 Aug 11.

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.

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http://dx.doi.org/10.1111/jch.12892DOI Listing
March 2017

Hypercalcemia in Patients with Williams-Beuren Syndrome.

J Pediatr 2016 Nov 26;178:254-260.e4. Epub 2016 Aug 26.

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO; National Institutes of Health, National Heart, Lung, and Blood Institute, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.08.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5085847PMC
November 2016

K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome.

Proc Natl Acad Sci U S A 2016 06 31;113(24):6773-8. Epub 2016 May 31.

Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, MO 63110; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110;

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http://dx.doi.org/10.1073/pnas.1606465113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914204PMC
June 2016

Chronic antihypertensive treatment improves pulse pressure but not large artery mechanics in a mouse model of congenital vascular stiffness.

Am J Physiol Heart Circ Physiol 2015 Sep 31;309(5):H1008-16. Epub 2015 Jul 31.

Departments of Pediatrics Washington University School of Medicine, St. Louis, Missouri; and

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http://dx.doi.org/10.1152/ajpheart.00288.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591401PMC
September 2015

Biomechanical properties of the skin in cutis laxa.

J Invest Dermatol 2014 Nov 20;134(11):2836-2838. Epub 2014 May 20.

Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153652
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http://dx.doi.org/10.1038/jid.2014.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199921PMC
November 2014

Skin findings in Williams syndrome.

Am J Med Genet A 2014 Sep 11;164A(9):2217-25. Epub 2014 Jun 11.

Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134746PMC
September 2014

Altered reactivity of resistance vasculature contributes to hypertension in elastin insufficiency.

Am J Physiol Heart Circ Physiol 2014 Mar 10;306(5):H654-66. Epub 2014 Jan 10.

Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri;

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http://www.physiology.org/doi/10.1152/ajpheart.00601.2013
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http://dx.doi.org/10.1152/ajpheart.00601.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949062PMC
March 2014

Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation.

J Biol Chem 2011 Dec 2;286(52):44926-36. Epub 2011 Nov 2.

Departments of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1074/jbc.M111.274779DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3248007PMC
December 2011

Elastic fiber formation: a dynamic view of extracellular matrix assembly using timer reporters.

J Cell Physiol 2006 Apr;207(1):87-96

Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://doi.wiley.com/10.1002/jcp.20546
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http://dx.doi.org/10.1002/jcp.20546DOI Listing
April 2006

Elastic fiber macro-assembly is a hierarchical, cell motion-mediated process.

J Cell Physiol 2006 Apr;207(1):97-106

Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas 66160, USA.

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http://dx.doi.org/10.1002/jcp.20573DOI Listing
April 2006

Tropoelastin interacts with cell-surface glycosaminoglycans via its COOH-terminal domain.

J Biol Chem 2005 Dec 27;280(49):40939-47. Epub 2005 Sep 27.

Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1074/jbc.M507309200DOI Listing
December 2005

Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells.

Matrix Biol 2004 Apr;23(1):23-34

Department of Cell Biology and Physiology, Washington University School of Medicine, Campus Box 8228, 660 South Euclid Ave., St. Louis, MO 63110, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S0945053X0400016
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http://dx.doi.org/10.1016/j.matbio.2004.02.004DOI Listing
April 2004

Domains in tropoelastin that mediate elastin deposition in vitro and in vivo.

J Biol Chem 2003 May 6;278(20):18491-8. Epub 2003 Mar 6.

Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1074/jbc.M212715200DOI Listing
May 2003