Results 41 to 50 of about 27,486 (234)

Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation

Frontiers in Transplantation
BackgroundCardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its
Ludmila De Oliveira Jaime Sales, Paulo Sampaio Gutierrez, Adailson Wagner D. Siqueira, Marcelo Biscegli Jatene, Estela Azeka   +4 more
doaj   +1 more source

A Systemic Selective Modified mRNA Delivery Platform for Preventing Chemotherapy‐Induced Cardiotoxicity

Advanced Science, EarlyView.
In Yoo and Mainkar et al., we present a minimally invasive, CM‐selective modRNA delivery system encapsulated in lipid nanoparticles for intravenous (IV) administration. This platform enables selective cardiac translation of therapeutic modRNA but suppresses expression in off‐target tissues, including tumors.
Jimeen Yoo, Gayatri Mainkar, Matteo Ghiringhelli, Bernardo Gindri Dos Santos, Magdalena M. Żak, Keerat Kaur, Ann Anu Kurian, Matthew Adjmi, Segev Sharon, Eftychia Markopoulou, Lucia Žigová, Daniela Hirsch, Sydney Pessin, Rachel Hanan, Juan Luis Escano Abreu, Niki Brisnovali, Nicole Dubois, Leigh Goedeke, Mengcheng Shen, Lior Zangi   +19 more
wiley   +1 more source

Natural History of Dilated Cardiomyopathy in Children [PDF]

, 2016
The long-term progression of idiopathic dilated cardiomyopathy (DCM) in pediatric patients compared with adult patients has not been previously characterized.
Barbati, Giulia, DI LENARDA, Andrea, Gigli, Marta, Merlo, Marco, Mestroni, Luisa, Puggia, Ilaria, Ramani, Federica, Rowland, Teisha J, Sinagra, Gianfranco, Stolfo, Davide   +9 more
core   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source

Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy

Cardiogenetics, 2022
Restrictive cardiomyopathy (RCM) is a rare disease of the myocardium caused by mutations in several genes including TNNT2, DES, TNNI3, MYPN and FLNC.
Francesca Girolami, Silvia Passantino, Adelaide Ballerini, Alessia Gozzini, Giulio Porcedda, Iacopo Olivotto, Silvia Favilli   +6 more
doaj   +1 more source

Diagnosis and assessment of dilated cardiomyopathy: a guideline protocol from the British Society of Echocardiography. [PDF]

, 2017
Heart failure (HF) is a debilitating and life-threatening condition, with 5-year survival rate lower than breast or prostate cancer. It is the leading cause of hospital admission in over 65s, and these admissions are projected to rise by more than 50 ...
Collins, K, Harkness, A, Jones, R, Knight, D, Mathew, T, Navaratnam, G, O'Gallagher, K, Oxborough, D, Rana, B, Ring, L, Sandoval, J, Sharma, V, Steeds, RP, Stout, M, Wheeler, R, Williams, L   +15 more
core   +2 more sources

F‐Box and Leucine‐Rich Repeat Protein 4 (FBXL4) Maintains Sarcomere Integrity and Cardiac Function by Enhancing K48‐Linked Ubiquitinated Degradation of Profilin‐1 (PFN1)

Advanced Science, EarlyView.
Schematic diagram depicting the proposed signaling mechanisms underlying the effects of FBXL4 in the setting of cardiac hypertrophy. Under hypertrophic stimulation, cardiomyocytes‐specific overexpression FBXL4 maintains sarcomere integrity and cardiac function by enhancing K48‐linked ubiquitinated degradation of PFN1 at the K70 site.
Xingda Li, Xueqi He, Xinyuan Hao, Yu Zhang, Xin Zhao, Shuang Wang, Zhenru Wang, Haonan Du, Hongda Li, Lian Yi, Zhimin Du, Weijie Du   +11 more
wiley   +1 more source

Pathobiology of cardiomyopathies: Experience at a Tertiary Care Center

Journal of the Practice of Cardiovascular Sciences, 2015
Background: Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with varied pathology. Pathology data from India are scarce.
Uma Nahar Saikia, Ajay Bahl, Baijayantimala Mishra, Mrinalini Sharma, Vandana Kumari, K K Talwar   +5 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

MRI and clinical characteristics of suspected cerebrovascular accident in nine cats [PDF]

, 2017
Objectives Cerebrovascular accidents (CVAs) are infrequently reported in cats. To date, clinical characteristics, including lesion localisation and MRI findings, have only been reported in two cats.
Beltran, E, Drees, R, Wittaker, D E
core   +2 more sources