Results 81 to 90 of about 3,472 (172)

Efficacy and Safety of SGLT2 Inhibitors in Patients With Genetic Lipodystrophy: A Real‐Life Experience From a National Reference Network

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aim Lipodystrophy syndromes are rare diseases with metabolic and cardiovascular consequences. This study explores the metabolic and renal effects of sodium‐glucose cotransporter 2 inhibitors (SGLT2i) in patients with genetic lipodystrophy. Patients and Methods Patients with familial partial lipodystrophy (n = 57) or congenital generalised ...
Léna Robert, Ines Belalem, Corinne Vigouroux, Hippolyte Dupuis, Marie Christine Vantyghem, Mathilde Simonson, Estelle Nobecourt, Héléna Mosbah, Sophie Beliard, Stéphanie Jellimann, Sonja Janmaat, Camille Vatier, Sophie Lamothe   +12 more
wiley   +1 more source

Establishment of a homozygous LMNA knock-out human induced pluripotent stem cell line using CRISPR/Cas9 system

Stem Cell Research
The LMNA gene encodes lamin A/C, essential components of the nuclear envelope that play crucial roles in maintaining nuclear architecture, mechanotransduction, and gene regulation.
So Hee Park, David Suh, Hyoeun Kim, Ru-Ri Lee, Isabella Leite Coscarella, Jaewon Oh, Sangwoo Kim, Hyoung-Pyo Kim, Chulan Kwon, Chan Joo Lee, Sahng Wook Park, Seunghyun Lee   +11 more
doaj   +1 more source

Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation

Journal of Physiological Sciences, 2023
Emery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities.
Eiji Wada, Kohei Matsumoto, Nao Susumu, Megumi Kato, Yukiko K. Hayashi   +4 more
doaj   +1 more source

Targeting Mitochondria Dysfunction in LMNA Cardiomyopathy

JACC: Basic to Translational Science
[Figure: see text] [Figure: see text]
Chia-Feng Liu, W.H. Wilson Tang
openaire   +2 more sources

Mechanical stiffness orchestrates distinct regulation of MRTFs and YAP/TAZ transcriptional cofactors in hepatocytes

The FEBS Journal, EarlyView.
MRTFs and YAP/TAZ proteins, or mechanosensitive transcriptional cofactors (MRTcoF), regulate common genes associated with cellular contractility and immune cell infiltration. Their differential regulation in response to stiffness is linked to changes in hepatocyte's aspect ratio. MRTFB does not undergo nuclear translocation under these conditions. This
Brenda Selene Torres‐Ortiz, Daniel Pérez‐Calixto, Jorge Carretero‐Ortega, Aida Gabriela Guzman‐López, Diana Cristina Pinto‐Dueñas, Mariana Hernández‐Juárez, Alejandra Jiménez‐Escobar, Adriana Rodríguez‐Hernández, Beatriz Díaz‐Bello, Nathalia Serna‐Márquez, Miguel Ángel Peña‐Rico, Laura Gómez‐Romero, Francisco Gabriel Vázquez‐Cuevas, Genaro Vázquez‐Victorio   +13 more
wiley   +1 more source

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants [PDF]

, 2019
The phenotypic heterogeneity of Lamin A/C (LMNA) variants renders it difficult to classify them. As a consequence, many LMNA variants are classified as variant of unknown significance (VUS). A number of studies reported different types of visible nuclear
Miriam A. F. Kamps, Kamps, Miriam, Lindsey, Patrick, Ramaekers, F.C.S., Lindsey, Patrick J., Kamps, Miriam A. F., van Tienen, Florence; id_orcid, van Tienen, Florence, Krapels, Ingrid, Ramaekers, Frans, Patrick J. Lindsey, Arthur van den Wijngaard, Ingrid P. Krapels, Brunner, H.G., Frans C. S. Ramaekers, Broers, J.L., Jos L. V. Broers, van den Wijngaard, Arthur, Han G. Brunner, Wijngaard, A. van den, Krapels, Ingrid P., Brunner, Han, Florence H. J. van Tienen, Tienen, F.H. van, Broers, Jos   +24 more
core   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source

Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundPrecision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in the environment, lifestyle, and genetic makeup of patients.
Yee‐Ki Lee, Yee‐Man Lau, Zhu‐Jun Cai, Wing‐Hon Lai, Lai‐Yung Wong, Hung‐Fat Tse, Kwong‐Man Ng, Chung‐Wah Siu   +7 more
doaj   +1 more source

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy

Journal of Internal Medicine, EarlyView.
Abstract Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions.
Robert K. Semple, Martin Wabitsch, Baris Akinci, Saif Alyaarubi, Marjoleine F. Broekema, Rebecca J. Brown, Giovanni Ceccarini, Carolina Cecchetti, Solaf M. Elsayed, Antía Fernández‐Pombo, Alessandra Gambineri, Ingrid M. Jazet, Lotte Kleinendorst, Konstanze Miehle, Elif A. Oral, Flavia Prodam, Ferruccio Santini, David B. Savage, Nadia Shaukat Ali, Ekaterina Sorkina, Magdalena Szopa, Marie‐Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Julia von Schnurbein, David Araújo‐Vilar   +25 more
wiley   +1 more source

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models

Pharmaceuticals
Variants (pathogenic) of the LMNA gene are a common cause of familial dilated cardiomyopathy (DCM), which is characterised by early-onset atrioventricular (AV) block, atrial fibrillation and ventricular tachyarrhythmias (VTs), and progressive heart ...
Xin-Yi Wu, Yee-Ki Lee, Yee-Man Lau, Ka-Wing Au, Yiu-Lam Tse, Kwong-Man Ng, Chun-Ka Wong, Hung-Fat Tse   +7 more
doaj   +1 more source