Results 81 to 90 of about 148,895 (244)

The Heterotaxy Gene CCDC11 Is Important for Cytokinesis via RhoA Regulation

Cytoskeleton, EarlyView.
ABSTRACT Mutations in CCDC11 (cfap53) have been identified in multiple patients with heterotaxy (Htx), a disorder of left–right (LR) patterning of the internal organs. In Xenopus, depletion of Ccdc11 causes defects in LR patterning, recapitulating the patient phenotype. Upon Ccdc11 depletion, monociliated cells of the Left–Right Organizer (LRO) exhibit
Saurabh S. Kulkarni, Rachel E. Stephenson, Sarah Amalraj, Angelo Arrigo, Ewelina Betleja, James J. Moresco, John R. Yates III, Moe R. Mahjoub, Ann L. Miller, Mustafa K. Khokha   +9 more
wiley   +1 more source

Procollagen IIA Deficient Mice [PDF]

, 2010
This invention relates to the production of dual models of Congenital Heart Defects and Hypertrophic Cardiomyopathy with the use of mice which are genetically modified by transgenic (gene-knockout) techniques. The present invention produces knockout mice

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Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development

Developmental Dynamics, EarlyView.
Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin, Ange Michelle Nguimtsop, Fatima N. Chaudhry, Sylvia N. Michki, Jocelynda Salvador, M. Luisa Iruela‐Arispe, Jarod A. Zepp, Saikat Mukhopadhyay, Ondine Cleaver   +8 more
wiley   +1 more source

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. [PDF]

, 2020
Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During
Alankarage, Dimuthu, Chapman, Gavin, Dunwoodie, Sally L, Giannoulatou, Eleni, Pachter, Nick, Selleri, Licia, Shieh, Joseph T, Slavotinek, Anne, Szot, Justin O, Winlaw, David   +9 more
core   +1 more source

Prenatal diagnosis and treatment planning of congenital heart defects—possibilities and limits [PDF]

, 2018
Background: Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival.
Carrel, Thierry, Meyer-Wittkopf, Matthias, Nelle, Mathias, Pavlovic, Mladen, Raio, Luigi, Surbek, Daniel   +5 more
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GEO combined with quantitative protein trait loci identify causative proteins in hypertrophic cardiomyopathy

ESC Heart Failure, EarlyView.
Abstract Aims Hypertrophic cardiomyopathy (HCM) is a rare genetic heart disease characterized by a limited patient population and scarce research and treatment resources. This study aimed to identify HCM‐associated proteins by integrating cardiac tissue data from the Gene Expression Omnibus (GEO) database with the latest protein quantitative trait ...
Bo Li, Xu Zhao, Yan Ding, Yi Zhang
wiley   +1 more source

Percutaneous mechanical circulatory support for acute right heart failure: A practical approach

ESC Heart Failure, EarlyView.
This is an overview of percutaneous mechanical circulatory support options for acute right heart failure, illustrating key clinical scenarios, device types, and principles of tailored device selection based on haemodynamics and underlying pathology. Abstract Acute right heart failure (RHF) represents a critical entity with significant morbidity and ...
Mario Gramegna, Christophe Vandenbriele, Guido Tavazzi, Mir B. Basir, Caroline Bleakley, Mario Iannaccone, Daniel Kretzschmar, Francesco Maisano, Anna Mara Scandroglio, Benedikt Schrage, P. Christian Schultze, Gregory Serrao, Matthew Tomey, Richard Trimlett, Dirk Westermann, Matteo Montorfano, George Dangas, Susanna Price, Alaide Chieffo   +18 more
wiley   +1 more source

Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics

ESC Heart Failure, EarlyView.
Systematic approach to dilated cardiomyopathy diagnosis. Dilated cardiomyopathy is a clinical diagnosis characterized by the presence of left ventricular dilatation and systolic disfunction unexplained by abnormal loading conditions or coronary artery disease.
Kristian Galanti, Ghaith Sharaf Dabbagh, Fabrizio Ricci, Sabina Gallina, Roberta Giansante, Ron Jacob, Edmond Obeng‐Gyimah, Leslie T. Cooper Jr, Sanjay K. Prasad, David H. Birnie, Andrew P. Landstrom, Selma F. Mohammed, Saidi Mohiddin, Mohammed Y. Khanji, Anwar A. Chahal   +14 more
wiley   +1 more source

Left ventricular decompression in paediatric veno‐arterial extracorporeal life support: Reviewing the evidence

ESC Heart Failure, EarlyView.
Abstract Veno‐arterial extracorporeal life support (VA ECLS) is crucial for neonatal and paediatric patients with severe circulatory collapse but may cause left ventricular (LV) overload, affecting myocardial recovery and causing complications. Evidence on optimal LV decompression strategies in paediatric patients remains limited.
Giacomo Veronese, Paolo Meani, Domenico Sirico, Giovanni Di Salvo, Enrico Ammirati, Alessandro Varrica, Umberto Di Dedda, Paolo Bianchi, Giuseppe Isgrò, Alessandro Giamberti, Tommaso Aloisio, Marc Dickstein, Ezio Bonanomi, Bahaaldin Alsoufi, Ravi R. Thiagarajan, Peta M.A. Alexander, D. Michael McMullan, Ryan P. Barbaro, Graeme MacLaren, Marco Ranucci, Navin K. Kapur, Roberto Lorusso   +21 more
wiley   +1 more source

Prevalence and predictors of later feeding disorders in children who underwent neonatal cardiac surgery for congenital heart disease [PDF]

, 2017
Aim We thought of assessing the prevalence and predictors of feeding disorders in patients with congenital heart defects after neonatal cardiac surgery.
Balmer, Christian, Bauersfeld, Urs, Geissmann, Hilda, Knirsch, Walter, Latal, Beatrice, Maurer, Ilona   +5 more
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