Search Results - "Kearney, Debra"

The Glu86 Residue in TBX4 Proves Critical for Human Lung Development by Szafranski, Przemyslaw, Gambin, Tomasz, Deutsch, Gail, Nassef, Salma A., Bailey, Mary Clay, Kearney, Debra L., Stankiewicz, Paweł

“…ABSTRACT T‐box transcription factors are a group of evolutionarily conserved T‐box‐containing regulators of mesoderm specification and development…”
Get full text

Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease by Gerard, Amanda, Mizerik, Elizabeth, Mohila, Carrie A., AlAwami, Sarah, Hunter, Jill V., Kearney, Debra L., Lalani, Seema R., Scaglia, Fernando

“…PARS2 encodes an aminoacyl‐tRNA synthetase that catalyzes the ligation of proline to mitochondrial prolyl‐tRNA molecules. Diseases associated with PARS2…”
Get full text

Green tea extract: a potential cause of acute liver failure by Patel, Shreena S, Beer, Stacey, Kearney, Debra L, Phillips, Garrett, Carter, Beth A

“…The use of herbal products has increased significantly in recent years. Because these products are not subject to regulation by the Food and Drug…”
Get full text

Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy by Wang, Guey-Shin, Kearney, Debra L, De Biasi, Mariella, Taffet, George, Cooper, Thomas A

“…Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide expansion in the 3' untranslated region (3' UTR) of DM protein kinase (DMPK). The key feature…”
Get full text

Atypical infiltrates on endomyocardial biopsy are associated with adverse outcomes in pediatric heart transplantation by Hope, Kyle D, Morris, Shaine A, Kearney, Debra L, Puri, Kriti, Choudhry, Swati, Spinner, Joseph A, Tunuguntla, Hari P, Price, Jack F, Dreyer, William J, Nicholas, Sarah K, Denfield, Susan W

“…The significance of atypical infiltrates (eosinophils or plasma cells) on endomyocardial biopsy (EMB) after pediatric heart transplant (HTx) is not known. We…”
Get full text

Arrhythmogenic cardiomyopathy is under‐recognized in end‐stage pediatric heart failure: A 36‐year single‐center experience by Tadros, Hanna J., Choudhry, Swati, Kearney, Debra L., Hope, Kyle, Yesso, Abigail, Miyake, Christina Y., Price, Jack, Spinner, Joseph, Tunuguntla, Hari, Puri, Kriti, Dreyer, William, Denfield, Susan W.

“…Background Although ventricular failure is a late finding in adults with AC, we hypothesize that this is a presenting symptom in pediatric heart failure…”
Get full text

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations by PUREVJAV, Enkhsaikhan, ARIMURA, Takuro, OMMEN, Steve R, SHIBATA, Hiroki, TAKAHASHI, Megumi, ITOH-SATOH, Manatsu, MCKENNA, William J, MURPHY, Ross T, LABEIT, Siegfried, YAMANAKA, Yoichi, MACHIDA, Noboru, PARK, Jeong-Euy, AUGUSTIN, Sibylle, ALEXANDER, Peta M. A, WEINTRAUB, Robert G, KITAURA, Yasushi, ACKERMAN, Michael J, KIMURA, Akinori, TOWBIN, Jeffrey A, HUBY, Anne-Cecile, TAKAGI, Ken, NUNODA, Shinichi, KEARNEY, Debra L, TAYLOR, Michael D, TERASAKI, Fumio, BOS, Johan M

“…Abnormalities in Z-disc proteins cause hypertrophic (HCM), dilated (DCM) and/or restrictive cardiomyopathy (RCM), but disease-causing mechanisms are not fully…”
Get full text

Desmosomal Dysfunction due to Mutations in Desmoplakin Causes Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy by Yang, Zhao, Bowles, Neil E, Scherer, Steven E, Taylor, Michael D, Kearney, Debra L, Ge, Shuping, Nadvoretskiy, Vyacheslav V, DeFreitas, Gilberto, Carabello, Blasé, Brandon, Lois I, Godsel, Lisa M, Green, Kathleen J, Saffitz, Jeffrey E, Li, Hua, Danieli, Gian Antonio, Calkins, Hugh, Marcus, Frank, Towbin, Jeffrey A

“…Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive degeneration of the right ventricular myocardium,…”
Get full text

Nebulette Mutations Are Associated With Dilated Cardiomyopathy and Endocardial Fibroelastosis by Purevjav, Enkhsaikhan, MD, PhD, Varela, Jaquelin, BS, Morgado, Micaela, MS, Kearney, Debra L., MD, Li, Hua, PhD, Taylor, Michael D., MD, PhD, Arimura, Takuro, DVM, PhD, Moncman, Carole L., PhD, McKenna, William, MD, Murphy, Ross T., MD, Labeit, Siegfried, MD, Vatta, Matteo, PhD, Bowles, Neil E., PhD, Kimura, Akinori, MD, PhD, Boriek, Aladin M., PhD, Towbin, Jeffrey A., MD

“…Objectives Four variants (K60N, Q128R, G202R, and A592E) in the nebulette gene were identified in patients with dilated cardiomyopathy (DCM) and endocardial…”
Get full text

In Utero Presentation of Left Ventricular Aneurysm by Ansah, Deidra A, Lawrence, Emily J, Kearney, Debra L, Qureshi, Athar M

“…Congenital left ventricular aneurysm, pseudoaneurysm, and diverticulum are rare entities. These diagnoses can be made pre- and/or postnatally. Although these…”
Get full text

The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview by Tadros, Hanna J, Miyake, Christina Y, Kearney, Debra L, Kim, Jeffrey J, Denfield, Susan W

“…Arrhythmogenic cardiomyopathy (AC) is a disease that involves electromechanical uncoupling of cardiomyocytes. This leads to characteristic histologic changes…”
Get full text

Detection of viruses in myocardial tissues by polymerase chain reaction. evidence of adenovirus as a common cause of myocarditis in children and adults by Bowles, Neil E, Ni, Jiyuan, Kearney, Debra L, Pauschinger, Matthias, Schultheiss, Heinz-Peter, McCarthy, Robert, Hare, Joshua, Bricker, J Timothy, Bowles, Karla R, Towbin, Jeffrey A

“…The purpose of this study was to analyze cardiac tissue and blood for viral genomes using polymerase chain reaction (PCR) to define the common viral etiologies…”
Get full text

Mice with the R176Q Cardiac Ryanodine Receptor Mutation Exhibit Catecholamine-Induced Ventricular Tachycardia and Cardiomyopathy by Kannankeril, Prince J., Mitchell, Brett M., Goonasekera, Sanjeewa A., Chelu, Mihail G., Zhang, Wei, Sood, Subeena, Kearney, Debra L., Danila, Cristina I., De Biasi, Mariella, Wehrens, Xander H. T., Pautler, Robia G., Roden, Dan M., Taffet, George E., Dirksen, Robert T., Anderson, Mark E., Hamilton, Susan L.

“…Mutations in the cardiac ryanodine receptor 2 (RyR2) have been associated with catecholaminergic polymorphic ventricular tachycardia and a form of…”
Get full text

Acute on Chronic Rheumatic Valvulitis by Craik, Natalie K., Burns, Joseph, Borges, Nirica, Doan, Tam T., Sanyahumbi, Amy E., Hickey, Edward J., Kearney, Debra L., Rochat, Ryan H., Muscal, Eyal, Glenn, Thomas

“…An 11-year-old boy presented in distress with tachypnea, holosystolic murmur, and a gallop. Echocardiography revealed mitral valve thickening and severe…”
Get full text

Viral epidemiologic shift in inflammatory heart disease: The increasing involvement of parvovirus B19 in the myocardium of pediatric cardiac transplant patients by Breinholt, John P., MD, Moulik, Mousumi, MD, Dreyer, William J., MD, Denfield, Susan W., MD, Kim, Jeffrey J., MD, Jefferies, John L., MD, Rossano, Joseph W., MD, Gates, Corey M., RN, Clunie, Sarah K., RN, Bowles, Karla R., PhD, Kearney, Debra L., MD, Bowles, Neil E., PhD, Towbin, Jeffrey A., MD

“…Background Detection of viral genome in rejecting cardiac transplant patients has been reported, with coxsackievirus and adenovirus causing premature graft…”
Get full text

The Pathological Spectrum of Left-Ventricular Hypoplasia by Kearney, Debra L.

“…Left-ventricular (LV) hypoplasia encompasses a range of LV sizes, varying from a mildly underdeveloped, but functionally adequate, chamber to the miniscule,…”
Get full text

Pre-cannulation lung biopsy shortens ECMO course by Lohmann, Pablo, Lee, Timothy C., Kearney, Debra L., Fernandes, Caraciolo J.

“…We describe the clinical course of an infant with respiratory failure who underwent lung biopsy prior to cannulation for undergoing extracorporeal membrane…”
Get full text

Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV by Szafranski, Przemyslaw, Herrera, Carmen, Proe, Lori A, Coffman, Brittany, Kearney, Debra L, Popek, Edwina, Stankiewicz, Paweł

“…Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder caused by heterozygous point mutations…”
Get full text

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children by ZHAO YANG, MCMAHON, Colin J, GRENIER, Michelle, KERTESZ, Naomi J, CLUNIE, Sarah K, FERNBACH, Susan D, SOUTHERN, James F, BERGER, Stuart, TOWBIN, Jeffrey A, BOWLES, Karla R, BOWLES, Neil E, SMITH, Liana R, BERSOLA, Jeathrina, ADESINA, Adekunle M, BREINHOLT, John P, KEARNEY, Debra L, DREYER, William J, DENFIELD, Susan W, PRICE, Jack F

“…Some patients with hypertrophic cardiomyopathy (HCM) or left ventricular hypertrophy also present with skeletal myopathy and Wolff-Parkinson-White (WPW)…”
Get full text

Viral Endomyocardial Infection Is an Independent Predictor and Potentially Treatable Risk Factor for Graft Loss and Coronary Vasculopathy in Pediatric Cardiac Transplant Recipients by Moulik, Mousumi, MD, Breinholt, John P., MD, Dreyer, William J., MD, Kearney, Debra L., MD, Price, Jack F., MD, Clunie, Sarah K., RN, Moffett, Brady S., PharmD, Kim, Jeffrey J., MD, Rossano, Joseph W., MD, Jefferies, John Lynn, MD, MPH, Bowles, Karla R., PhD, O'Brian Smith, E., PhD, Bowles, Neil E., PhD, Denfield, Susan W., MD, Towbin, Jeffrey A., MD

“…Objectives This study sought to evaluate the outcome and prevalence of viral endomyocardial infection after cardiac transplantation. Background Viral…”
Get full text