Results 91 to 100 of about 23,382 (212)

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome

Genes
The LMNA gene encodes lamin A and lamin C, which play important roles in nuclear organization. Pathogenic variants in LMNA cause laminopathies, a group of disorders with diverse phenotypes. There are two main groups of disease-causing variants: missense variants affecting dimerization and intermolecular interactions, and heterozygous substitutions ...
Matheus V. M. B. Wilke, Myra Wick, Tanya L. Schwab, Rodrigo Tzovenos Starosta, Karl J. Clark, Heidi M. Connolly, Eric W. Klee   +6 more
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

A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report [PDF]

, 2010
We describe a case of a patient with idiopathic dilated cardiomyopathy and cardiac conduction abnormalities who presented a strong family history of sudden cardiac death.
Nicoletta Botto, Simona Vittorini, Maria Giovanna Colombo, Andrea Biagini, Umberto Paradossi, Giovanni Aquaro, Maria Grazia Andreassi, E Arbustini, MG Colombo, JH van Berlo, M Pasotti, P Richardson, SB Parks, M Hermida-Prieto, S Kärkkäinen, A Perrot, CL Stewart, L Mestroni   +17 more
core   +2 more sources

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

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

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

Mapping malignant T‐cell states and immune circuits in Sézary syndrome by single‐cell analysis

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Peripheral blood single‐cell RNA‐seq from leukaemic CTCL defined three malignant T‐cell programmes: MTC CM, MTC Reg and MTC E/EM, each with distinct features and candidate vulnerabilities. For example, inferred immune circuits highlighted actionable IL‐10/JAK–TYK2–STAT3 signalling, KIR–MHC I inhibitory interactions and myeloid/B‐cell inflammatory and ...
Beth A. Childs, Eslam A. Elghonaimy, Praveen Ramakrishnan Geethakumari, Kiran A. Kumar, Joseph F. Merola, Heather W. Goff, Todd A. Aguilera   +6 more
wiley   +1 more source

Farnesyltransferase Deficiency in Cardiomyocytes Initiates Senescence and Contributes to Cardiac Fibrosis

Advanced Science, Volume 13, Issue 26, 8 May 2026.
Lipid overload suppresses SREBF2‐mediated FNTB expression, leading to defective Lamin A maturation and nuclear envelope instability. This nuclear catastrophe triggers a pro‐fibrotic senescence program in cardiomyocytes. Notably, restoring nuclear integrity via AAV9‐based gene therapy effectively attenuates cardiac remodeling, identifying the ...
Yuxiao Chen, Lian Lou, Xuan Zhang, Lin Yan, Qi Zhang, Wen Shi, Jie Ding, Xu Lin, Rong Jiang, Shuo Liu, Thida Sok, Pengli Wang, Yun Mou, Jie Han, Shenjiang Hu, Xiaogang Guo, Jian Yang   +16 more
wiley   +1 more source

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

Cells, 2020
Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations of the LMNA gene or related nuclear envelope genes. The variety of clinical phenotypes and the wide spectrum of histopathological changes among patients carrying ...
Cristina Cappelletti, Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano, Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi, Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi   +20 more
doaj   +1 more source

Nuclear Mechanotransduction Across the Metastatic Cascade: Decoding Spatiotemporal Heterogeneity in Cancer Dissemination

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Tumor metastasis results from complex interactions between cancer cells and mechanical microenvironments. We propose a “nucleus‐centered, cross‐stage mechanical signal decoding” model, highlighting how nuclear mechanosensors interpret forces at different stages.
Linqi Song, Jingyang Liu, Xue Wang, Minpu Zhang, Changgang Sun   +4 more
wiley   +1 more source