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- Autoinflammatory disease (1)
- Cardiac regeneration (1)
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- Congenital heart defect (1)
- Coronary artery ligation (1)
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- Multiplex ligation dependent probe amplification (1)
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- OTULIN (1)
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Articles 1 - 8 of 8
Full-Text Articles in Medicine and Health Sciences
Detection Of Α-Thalassemia By Using Multiplex Ligation-Dependent Probe Amplification As An Additional Method For Rare Mutations In Southern Turkey, Ozge Ozalp Yuregir, Akif Ayaz, Sinem Yalcintepe, Sezin Canbek, Didar Yanardag Acik, Basak Taburoglu Yilmaz, Tugce B. Balci
Detection Of Α-Thalassemia By Using Multiplex Ligation-Dependent Probe Amplification As An Additional Method For Rare Mutations In Southern Turkey, Ozge Ozalp Yuregir, Akif Ayaz, Sinem Yalcintepe, Sezin Canbek, Didar Yanardag Acik, Basak Taburoglu Yilmaz, Tugce B. Balci
Paediatrics Publications
α-thalassemia is the most common single gene disorder in the Cukurova Region in Turkey. It is therefore routinely screened, including premaritally, in our region. The heterogeneous molecular basis of the disease makes α-thalassemia mutation detection difficult and complex. Besides well established methods, multiplex ligation dependent probe amplification (MLPA) is known as an effective, simple and specific method for the detection and characterization of deletions and duplications. We employed MLPA testing to 30 patients with hematological parameters suggestive of α-thalassemia carrier status but was negative for α-thalassemia with conventional reverse dot blot hybridization (RDB). We found α-globin gene deletions in 3 …
Structural Conservation And E2f Binding Specificity Within The Retinoblastoma Pocket Protein Family, Tyler J. Liban, Michael J. Thwaites, Frederick A. Dick, Seth M. Rubin
Structural Conservation And E2f Binding Specificity Within The Retinoblastoma Pocket Protein Family, Tyler J. Liban, Michael J. Thwaites, Frederick A. Dick, Seth M. Rubin
Paediatrics Publications
The human pocket proteins retinoblastoma (Rb), p107, and p130 are critical negative regulators of the cell cycle and contribute to tumor suppression. While strong structural conservation within the pocket protein family provides for some functional redundancy, important differences have been observed and may underlie the reason that Rb is a uniquely potent tumor suppressor. It has been proposed that distinct pocket protein activities are mediated by their different E2F transcription factor binding partners. In humans, Rb binds E2F1–E2F5, whereas p107 and p130 almost exclusively associate with E2F4 and E2F5. To identify the molecular determinants of this specificity, we compared the …
Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease, Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Li Tsai, Hye Sun Kuehn, Hongying Wang, Dan Yang, Yong Hwan Park, Amanda K. Ombrello, Mary Blake, Tina Romeo, Elaine F. Remmers, Jae Jin Chae, James C. Mullikin, Ferhat Güzel, Joshua D. Milner, Manfred Boehm, Sergio D. Rosenzweig, Massimo Gadina, Steven B. Welch, Seza Özen, Rezan Topaloglu, Mario Abinun, Daniel L. Kastner, Ivona Aksentijevich
Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease, Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Li Tsai, Hye Sun Kuehn, Hongying Wang, Dan Yang, Yong Hwan Park, Amanda K. Ombrello, Mary Blake, Tina Romeo, Elaine F. Remmers, Jae Jin Chae, James C. Mullikin, Ferhat Güzel, Joshua D. Milner, Manfred Boehm, Sergio D. Rosenzweig, Massimo Gadina, Steven B. Welch, Seza Özen, Rezan Topaloglu, Mario Abinun, Daniel L. Kastner, Ivona Aksentijevich
Paediatrics Publications
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a deubiquitinase with linear linkage specificity. We identified two missense and one frameshift mutations in one Pakistani and two Turkish families with four affected patients. Patients presented with neonatal-onset fever, neutrophilic dermatitis/panniculitis, and failure to thrive, but without obvious primary immunodeficiency. HEK293 cells transfected with mutated OTULIN had decreased enzyme activity relative to cells transfected with WT OTULIN, and showed a substantial defect in the linear deubiquitination of target molecules. Stimulated patients' …
Myocardial Infarction In Neonatal Mice, A Model Of Cardiac Regeneration, Jessica N. Blom, Xiangru Lu, Paul Arnold, Qingping Feng
Myocardial Infarction In Neonatal Mice, A Model Of Cardiac Regeneration, Jessica N. Blom, Xiangru Lu, Paul Arnold, Qingping Feng
Paediatrics Publications
Myocardial infarction induced by coronary artery ligation has been used in many animal models as a tool to study the mechanisms of cardiac repair and regeneration, and to define new targets for therapeutics. For decades, models of complete heart regeneration existed in amphibians and fish, but a mammalian counterpart was not available. The recent discovery of a postnatal window during which mice possess regenerative capabilities has led to the establishment of a mammalian model of cardiac regeneration. A surgical model of mammalian cardiac regeneration in the neonatal mouse is presented herein. Briefly, postnatal day 1 (P1) mice are anesthetized by …
Recovery Of Sleep Or Recovery Of Self? A Grounded Theory Study Of Residents' Decision Making Regarding How To Spend Their Nonclinical Postcall Time, Taryn S. Taylor, Jeff Nisker, Pim W. Teunissen, Tim Dornan, Lorelei Lingard
Recovery Of Sleep Or Recovery Of Self? A Grounded Theory Study Of Residents' Decision Making Regarding How To Spend Their Nonclinical Postcall Time, Taryn S. Taylor, Jeff Nisker, Pim W. Teunissen, Tim Dornan, Lorelei Lingard
Paediatrics Publications
Purpose As resident work hours policies evolve, residents' off-duty time remains poorly understood. Despite assumptions about how residents should be using their postcall, off-duty time, there is little research on how residents actually use this time and the reasoning underpinning their activities. This study sought to understand residents' nonclinical postcall activities when they leave the hospital, their decision-making processes, and their perspectives on the relationship between these activities and their well-being or recovery. Method The study took place at a Liaison Committee on Medical Education-accredited Canadian medical school from 2012 to 2014. The authors recruited a purposive and convenience sample …
Cardiac Acetylcholine Inhibits Ventricular Remodeling And Dysfunction Under Pathologic Conditions, Ashbeel Roy, Mouhamed Dakroub, Geisa C.S.V. Tezini, Yin Liu, Silvia Guatimosim, Qingping Feng, Helio C. Salgado, Vania F. Prado, Marco A.M. Prado, Robert Gros
Cardiac Acetylcholine Inhibits Ventricular Remodeling And Dysfunction Under Pathologic Conditions, Ashbeel Roy, Mouhamed Dakroub, Geisa C.S.V. Tezini, Yin Liu, Silvia Guatimosim, Qingping Feng, Helio C. Salgado, Vania F. Prado, Marco A.M. Prado, Robert Gros
Paediatrics Publications
Autonomic dysfunction is a characteristic of cardiac disease and decreased vagal activity is observed in heart failure. Rodent cardiomyocytes produce de novo ACh, which is critical in maintaining cardiac homeostasis. We report that this nonneuronal cholinergic system is also found in human cardiomyocytes, which expressed choline acetyltransferase (ChAT) and the vesicular acetylcholine transporter (VAChT). Furthermore, VAChT expression was increased 3- and 1.5-fold at the mRNA and protein level, respectively, in ventricular tissue from patients with heart failure, suggesting increased ACh secretion in disease. Weusedmicewith geneticdeletionof cardiomyocytespecificVAChTor ChATandmice overexpressingVAChT to test the functional significance of cholinergic signaling. Mice deficient for VAChT …
Rac1 Signaling Is Required For Anterior Second Heart Field Cellular Organization And Cardiac Outflow Tract Development, Carmen Leung, Yin Liu, Xiangru Lu, Mella Kim, Thomas A. Drysdale, Qingping Feng
Rac1 Signaling Is Required For Anterior Second Heart Field Cellular Organization And Cardiac Outflow Tract Development, Carmen Leung, Yin Liu, Xiangru Lu, Mella Kim, Thomas A. Drysdale, Qingping Feng
Paediatrics Publications
Background-The small GTPase Rac1 regulates diverse cellular functions, including both apicobasal and planar cell polarity pathways; however, its role in cardiac outflow tract (OFT) development remains unknown. In the present study, we aimed to examine the role of Rac1 in the anterior second heart field (SHF) splanchnic mesoderm and subsequent OFT development during heart morphogenesis. Methods and Results-Using the Cre/loxP system, mice with an anterior SHF-specific deletion of Rac1 (Rac1SHF) were generated. Embryos were collected at various developmental time points for immunostaining and histological analysis. Intrauterine echocardiography was also performed to assess aortic valve blood flow in embryos at embryonic …
Is Testosterone Detrimental To Renal Function?, Guido Filler, Amanda Ramsaroop, Robert Stein, Claire Grant, Raanan Marants, Aaron So, Christopher Mcintyre
Is Testosterone Detrimental To Renal Function?, Guido Filler, Amanda Ramsaroop, Robert Stein, Claire Grant, Raanan Marants, Aaron So, Christopher Mcintyre
Paediatrics Publications
No abstract provided.