Výsledky vyhledávání - "Laura J. Train"

Point of care CYP2C19 genotyping after percutaneous coronary intervention

Autor: Linnea M. Baudhuin, Laura J. Train, Shaun G. Goodman, Gary E. Lane, Ryan J. Lennon, Verghese Mathew, Vishakantha Murthy, Tamim M. Nazif, Derek Y. F. So, John P. Sweeney, Alan H. B. Wu, Charanjit S. Rihal, Michael E. Farkouh, Naveen L. Pereira

Publikováno v: Pharmacogenomics J
The pharmacogenomics journal, vol 22, iss 5-6

Loss-of-function CYP2C19 variants are associated with increased cumulative ischemic outcomes warranting CYP2C19 genotyping prior to clopidogrel administration. TAILOR-PCI was an international, multicenter (40 sites), prospective, randomized trial com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3347d4cdb9635adeb2c8f3623bbbdbef
https://doi.org/10.1038/s41397-022-00278-4

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Genetic variation in statin intolerance and a possible protective role for UGT1A1

Autor: Sandra E Peterson, Erin J. Kaleta, Laura J. Train, Sandra C. Bryant, Linnea M. Baudhuin, Maria Alice V. Willrich, Stephen L. Kopecky, Vanda A. Lennon, Grant M. Spears

Publikováno v: Pharmacogenomics. 19:83-94

The etiology of statin intolerance is hypothesized to be due to genetic variants that impact statin disposition and clearance. We sought to determine whether genetic variants were associated to statin intolerance. The studied cohort consisted of hype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab5b917c23391d9e245b91050dff21cf
https://doi.org/10.2217/pgs-2017-0146

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Preemptive Pharmacogenomic Testing for Precision Medicine

Autor: Richard M. Weinshilboum, Douglas L. VanCuyk, Lisa M. Peterson, Yuan Ji, Numrah Fadra, Suzette J. Bielinski, Laura J. Train, Susan A. Lagerstedt, Matthew J. Ferber, Brenda E. Moore, Pedro J. Caraballo, Tamra L. Veldhuizen, Joseph H. Blommel, Linnea M. Baudhuin, Eric W. Klee, Sandra E Peterson, Jennifer M. Skierka, John L. Black, Jamie K. Bruflat

Publikováno v: The Journal of Molecular Diagnostics. 18:438-445

Significant barriers, such as lack of professional guidelines, specialized training for interpretation of pharmacogenomics (PGx) data, and insufficient evidence to support clinical utility, prevent preemptive PGx testing from being widely clinically

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4b1ca93913be4728a100d68bf97b8523
https://doi.org/10.1016/j.jmoldx.2016.01.003

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Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death

Autor: Linnea M. Baudhuin, Rajeswari Avula, Joseph J. Maleszewski, Charles Leduc, Michael J. Ackerman, Laura J. Train, Katrina E. Kotzer, Peter T. Lin, Michelle L. Kluge

Publikováno v: Circulation: Cardiovascular Genetics. 10

Background— Postmortem genetic testing for heritable cardiovascular (CV) disorders is often lacking because ideal specimens (ie, whole blood) are not retained routinely at autopsy. Formalin-fixed paraffin-embedded tissue (FFPET) is ubiquitously col

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80ab2a1514076d05832ea5016fec01cb
https://doi.org/10.1161/circgenetics.117.001844

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Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis

Autor: Katrina E. Kotzer, Leslie J. Donato, Ananda Basu, Laura J. Train, Jean M. Hornseth, Amy K. Saenger, Linnea M. Baudhuin, Susan A. Lagerstedt, Jeffrey L. Winters

Publikováno v: Journal of Clinical Apheresis. 29:256-265

Objective: Familial hypercholesterolemia (FH) can be due to mutations in LDLR, PCSK9, and APOB. In phenotypically defined patients, a subset remains unresponsive to lipid-lowering therapies and requires low density-lipoprotein (LDL) apheresis treatme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6473943ddc50aef7cbefea74c6b460e5
https://doi.org/10.1002/jca.21317

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Comparison of αLEPRA and αLELY Co-Inheritance with a SPTA1 Whole Gene Deletion, a Family Study

Autor: Jennifer L. Oliveira, Andre M. Oliveira, Michelle E. Savedra, Rong He, Aruna Rangan, Linnea M. Baudhuin, James D. Hoyer, Tavanna R. Porter, Laura J. Train, Molly S. Hein, Phuong L. Nguyen, Lea M. Coon

Publikováno v: Blood. 134:2228-2228

Background: Genetic variants resulting in quantitative defects in the production of α-spectrin are associated with autosomal recessive hereditary spherocytosis (HS). Because erythroid cells produce α-spectrin in a 3-4:1 ratio in relation to β-spec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::373bec5c837458d50fa5b4ee5104fe1e
https://doi.org/10.1182/blood-2019-125691

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Relation of ADRB1, CYP2D6, and UGT1A1 Polymorphisms With Dose of, and Response to, Carvedilol or Metoprolol Therapy in Patients With Chronic Heart Failure

Autor: Linnea M. Baudhuin, Laura J. Train, Mary A. Phelps, Sandra C. Bryant, Wayne L. Miller, Mary LaRock, Karen A. Hartman, Allan S. Jaffe

Publikováno v: The American Journal of Cardiology. 106:402-408

The response to beta blockers in patients with heart failure could be associated with the genotype of drug-metabolizing enzymes and/or drug targets. The purpose of the present study was to determine whether specific genetic polymorphisms in ADRB1 (en

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08eb96d606d57a0ce3c98431e332980
https://doi.org/10.1016/j.amjcard.2010.03.041

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Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis

Autor: Leslie J, Donato, Amy K, Saenger, Laura J, Train, Katrina E, Kotzer, Susan A, Lagerstedt, Jean M, Hornseth, Ananda, Basu, Jeffrey L, Winters, Linnea M, Baudhuin

Publikováno v: Journal of clinical apheresis. 29(5)

Familial hypercholesterolemia (FH) can be due to mutations in LDLR, PCSK9, and APOB. In phenotypically defined patients, a subset remains unresponsive to lipid-lowering therapies and requires low density-lipoprotein (LDL) apheresis treatment. In this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::218a47b059ff0726a95b177a1a07a377
https://pubmed.ncbi.nlm.nih.gov/24420163

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Prevalence and Spectrum of Large Deletions or Duplications in the Major Long QT Syndrome-Susceptibility Genes and Implications for Long QT Syndrome Genetic Testing

Autor: Amber J. Benton, Barbara J. Deal, Linnea M. Baudhuin, Michael J. Ackerman, David J. Tester, Laura J. Train

Long QT syndrome (LQTS) is a cardiac channelopathy associated with syncope, seizures, and sudden death. Approximately 75% of LQTS is due to mutations in genes encoding for 3 cardiac ion channel α-subunits (LQT1 to LQT3). However, traditional mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f28c20e096cd77993a3c2e3215125a87
https://europepmc.org/articles/PMC2950837/

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LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

Autor: Christine L.H. Snozek, Laura J. Train, Susan A. Lagerstedt, Teck Kim Khoo, Melvyn Rubenfire, Linnea M. Baudhuin, William L. Isley

Publikováno v: European journal of human genetics : EJHG. 17(1)

Familial hypercholesterolemia (FH) is the most common form of autosomal-dominant hypercholesterolemia, and is caused by mutations in the low-density lipoprotein receptor (LDLR) gene. Heterozygous FH is characterized by elevated low-density lipoprotei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ca953bf24ce180b37f9c0146c044722
https://pubmed.ncbi.nlm.nih.gov/18648394

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