Search Results - "Blair, Marcia"

High-Throughput Reclassification of SCN5A Variants by Glazer, Andrew M., Wada, Yuko, Li, Bian, Muhammad, Ayesha, Kalash, Olivia R., O’Neill, Matthew J., Shields, Tiffany, Hall, Lynn, Short, Laura, Blair, Marcia A., Kroncke, Brett M., Capra, John A., Roden, Dan M.

“…Partial or complete loss-of-function variants in SCN5A are the most common genetic cause of the arrhythmia disorder Brugada syndrome (BrS1). However, the…”
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Common genetic polymorphism at 4q25 locus predicts atrial fibrillation recurrence after successful cardioversion by Parvez, Babar, MD, Shoemaker, M. Benjamin, MD, Muhammad, Raafia, MD, Richardson, Rachael, RN, Jiang, Lan, MS, Blair, Marcia A., MS, Roden, Dan M., MD, FHRS, Darbar, Dawood, MD, FHRS

“…Background Genome-wide association studies have identified numerous common polymorphisms associated with atrial fibrillation (AF). The 3 loci most strongly…”
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High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1 by Kozek, Krystian A., Glazer, Andrew M., Ng, Chai-Ann, Blackwell, Daniel, Egly, Christian L., Vanags, Loren R., Blair, Marcia, Mitchell, Devyn, Matreyek, Kenneth A., Fowler, Douglas M., Knollmann, Bjorn C., Vandenberg, Jamie I., Roden, Dan M., Kroncke, Brett M.

“…KCHN2 encodes the KV11.1 potassium channel responsible for IKr, a major repolarization current during the cardiomyocyte action potential. Variants in KCNH2…”
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Genome-wide association and pathway analysis of left ventricular function after anthracycline exposure in adults by Wells, Quinn S, Veatch, Olivia J, Fessel, Joshua P, Joon, Aron Y, Levinson, Rebecca T, Mosley, Jonathan D, Held, Elizabeth P, Lindsay, Chase S, Shaffer, Christian M, Weeke, Peter E, Glazer, Andrew M, Bersell, Kevin R, Van Driest, Sara L, Karnes, Jason H, Blair, Marcia A, Lagrone, Lore W, Su, Yan R, Bowton, Erica A, Feng, Ziding, Ky, Bonnie, Lenihan, Daniel J, Fisch, Michael J, Denny, Joshua C, Roden, Dan M

“…Anthracyclines are important chemotherapeutic agents, but their use is limited by cardiotoxicity. Candidate gene and genome-wide studies have identified…”
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Chromosome 4q25 Variants Are Genetic Modifiers of Rare Ion Channel Mutations Associated With Familial Atrial Fibrillation by Ritchie, Marylyn D., PhD, Rowan, Shane, MD, Kucera, Gayle, BSc, Stubblefield, Tanya, BSc, Blair, Marcia, MS, Carter, Shannon, BSc, Roden, Dan M., MD, Darbar, Dawood, MD

“…Objectives The aim of this study was to test the hypothesis that 2 common polymorphisms in the chromosome 4q25 region that have been associated with atrial…”
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Common atrial fibrillation risk alleles at 4q25 predict recurrence after catheter-based atrial fibrillation ablation by Shoemaker, M. Benjamin, MD, Muhammad, Raafia, MD, Parvez, Babar, MD, White, Brenda W., RN, Streur, Megan, CNP, Song, Yanna, MS, Stubblefield, Tanya, RN, Kucera, Gayle, RN, Blair, Marcia, MS, Rytlewski, Jason, MD, Parvathaneni, Sunthosh, MD, Nagarakanti, Rangadham, MD, Saavedra, Pablo, MD, Ellis, Christopher R., MD, Patrick Whalen, S., MD, Roden, Dan M., MD, FHRS, Darbar R., Dawood, MD, FHRS

“…Background Common single nucleotide polymorphisms at chromosome 4q25 (rs2200733, rs10033464) are associated with both lone and typical atrial fibrillation…”
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A KCNJ8 mutation associated with early repolarization and atrial fibrillation by Delaney, Jessica T, Muhammad, Raafia, Blair, Marcia A, Kor, Kaylen, Fish, Frank A, Roden, Dan M, Darbar, Dawood

“…The Kir 6.1 K(atp) channel is believed to play an important role in ventricular repolarization as determined from both functional and genetic studies of the…”
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Genetic and Clinical Risk Prediction Model for Postoperative Atrial Fibrillation by Kolek, Matthew J, Muehlschlegel, J Daniel, Bush, William S, Parvez, Babar, Murray, Katherine T, Stein, C Michael, Shoemaker, M Benjamin, Blair, Marcia A, Kor, Kaylen C, Roden, Dan M, Donahue, Brian S, Fox, Amanda A, Shernan, Stanton K, Collard, Charles D, Body, Simon C, Darbar, Dawood

“…BACKGROUND—Postoperative atrial fibrillation (PoAF) is common after coronary artery bypass grafting. We previously showed that atrial fibrillation…”
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A Common Variant on Chromosome 4q25 is Associated With Prolonged PR Interval in Subjects With and Without Atrial Fibrillation by Kolek, Matthew J., MD, Parvez, Babar, MD, Muhammad, Raafia, MD, Shoemaker, M. Benjamin, MD, Blair, Marcia A., MS, Stubblefield, Tanya, RN, Kucera, Gayle A., RN, Denny, Joshua C., MD, Roden, Dan M., MD, Darbar, Dawood, MD

“…Single nucleotide polymorphisms (SNPs) at chromosome 4q25 (near PITX2 ) are strongly associated with atrial fibrillation (AF). We assessed whether a…”
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A Genome-Wide Association Study to Identify Genomic Modulators of Rate Control Therapy in Patients With Atrial Fibrillation by Kolek, Matthew J., MD, Edwards, Todd L., PhD, Muhammad, Raafia, MD, Balouch, Adnan, MD, Shoemaker, M. Benjamin, MD, Blair, Marcia A., MS, Kor, Kaylen C., BE, Takahashi, Atsushi, PhD, Kubo, Michiaki, MD, PhD, Roden, Dan M., MD, Tanaka, Toshihiro, MD, PhD, Darbar, Dawood, MD

“…For many patients with atrial fibrillation, ventricular rate control with atrioventricular (AV) nodal blockers is considered first-line therapy, although…”
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Initial changes in peak aortic jet velocity and mean gradient predict progression to severe aortic stenosis by Nayeri, Arash, Xu, Meng, Farber-Eger, Eric, Blair, Marcia, Saini, Inderpreet, Shamsa, Kamran, Fonarow, Gregg, Horwich, Tamara, Wells, Quinn S.

“…There is significant interindividual variability in the rate of aortic stenosis (AS) progression that is not accounted for in the current surveillance…”
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Candidate gene approach to identifying rare genetic variants associated with lone atrial fibrillation by Weeke, Peter, MD, Parvez, Babar, MD, Blair, Marcia, MS, Short, Laura, MS, Ingram, Christie, BS, Kucera, Gayle, RN, Stubblefield, Tanya, RN, Roden, Dan M., MD, FHRS, Darbar, Dawood, MD, FHRS

“…Background Rare variants in candidate atrial fibrillation (AF) genes have been associated with AF in small kindreds. The extent to which such polymorphisms…”
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Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy by Ma, Shaochun, Blair, Marcia A., Abou-Khalil, Bassel, Lagrange, Andre H., Gurnett, Christina A., Hedera, Peter

“…Juvenile myoclonic epilepsy (JME), accounting for approximately 25% of idiopathic generalized epilepsies, is genetically heterogeneous. Mutations in the…”
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A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p by Blair, Marcia A., Abou‐Khalil, Bassel, Crunk, Amy, Haines, Jonathan L., Hedera, Peter

“…Summary Purpose:  Generalized epilepsies are clinically and genetically heterogeneous syndromes. Idiopathic generalized epilepsy (IGE), which has a strong…”
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Identification of a Novel Locus for Febrile Seizures and Epilepsy on Chromosome 21q22 by Hedera, Peter, Ma, Shaochun, Blair, Marcia A., Taylor, Kelly A., Hamati, Aline, Bradford, Yuki, Abou‐Khalil, Bassel, Haines, Jonathan L.

“…Purpose: To report results of linkage analysis in a large family with autosomal dominant (AD) febrile seizures (FS) and epilepsy. Background:AD FS and epilepsy…”
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Familial essential tremor with apparent autosomal dominant inheritance: Should we also consider other inheritance modes? by Ma, Shaochun, Davis, Thomas L., Blair, Marcia A., Fang, John Y., Bradford, Yuki, Haines, Jonathan L., Hedera, Peter

“…A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not…”
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Reappraisal of the role of the DRD3 gene in essential tremor by Blair, Marcia A, Ma, Shaochun, Phibbs, Fenna, Fang, John Y, Cooper, Michael K, Davis, Thomas L, Hedera, Peter

“…Abstract Objectives Analyze the distribution of polymorphism in the dopamine receptor D3 ( DRD3 ) gene, which was previously reported as a susceptibility risk…”
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Pre-existing Psychiatric Illness is Associated With Increased Risk of Recurrent Takotsubo Cardiomyopathy by Nayeri, Arash, M.D, Rafla-Yuan, Eric, M.D, Farber-Eger, Eric, B.S, Blair, Marcia, M.S, Ziaeian, Boback, M.D, Cadeiras, Martin, M.D, McPherson, John A., M.D, Wells, Quinn S., M.D

“…Background The increased prevalence of psychiatric illness among patients with takotsubo cardiomyopathy (TC) has been previously described. Objectives We…”
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Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia by BLAIR, Marcia A, SHAOCHUN MA, HEDERA, Péter

“…Autosomal dominant hereditary spastic paraplegia (AD HSP) linked to chromosome 12q (SPG10) is caused by mutations in the neuronal kinesin heavy-chain KIF5A…”
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Infantile Onset of Hereditary Spastic Paraplegia Poorly Predicts the Genotype by Blair, Marcia A., BSc, Riddle, Megan E., BSc, Wells, Jennifer F., BSc, Breviu, Brian A., BSc, Hedera, Peter, MD

“…Age of symptom onset of hereditary spastic paraplegia varies from infancy to the eighth decade. Infantile onset of hereditary spastic paraplegia without a…”
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