Results 71 to 80 of about 14,545 (178)

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

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

Pan‐cancer atlas of cellular architecture reveals a nearest‐neighbour distance‐associated biomechanical‐immune axis involving CD4+ memory T cells

Clinical and Translational Medicine, Volume 16, Issue 7, July 2026.
1. NND extracted from routine H&E slides serves as a spatial proxy for mechanical crowding across 21 cancer types. 2. Low NND is associated with Hippo/YAP/TAZ pathway activation and CD4+ TMem cell enrichment, validated by single‐cell and spatial transcriptomics. 3.
Linglong Huang, Arne Östman, Yunfan Sun
wiley   +1 more source

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT 2‐oxyglutarate dehydrogenase (OGDH) encodes an E1 component of α‐ketoglutarate dehydrogenase complex that plays a pivotal role in the Krebs cycle. Biallelic variants in OGDH have been reported to cause an early‐onset neurodevelopmental and mitochondrial disorder.
Liedewei Van de Vondel, Gyu S. Lee, Jonathan De Winter, Satoshi Matsuzaki, Abigail Sandoval, Juan Felipe Ramirez, Alice Monticelli, Sukyeong Lee, Rita Horvath, Jan de Bleecker, Stephan Züchner, Kenneth M. Humphries, Jonathan Baets, Wan Hee Yoon   +13 more
wiley   +1 more source

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

PDGF pathway in LMNA-related dilated cardiomyopathy [PDF]

Nature Reviews Cardiology, 2019
Activation of the PDGF pathway is involved in the pathogenesis of dilated cardiomyopathy caused by mutations in LMNA; this new finding suggests that inhibition of PDGFRβ is a novel therapeutic target for patients with this condition.
openaire   +2 more sources

SIRT1 Ameliorates Lamin A/C Deficiency-Induced Cardiac Dysfunction by Promoting Mitochondrial Bioenergetics

JACC: Basic to Translational Science
Summary: Dilated cardiomyopathy (DCM) is associated with high mortality despite advanced therapies. The LMNA gene encodes lamin A/C and is the second most frequently mutated gene associated with DCM, for which therapeutic options are limited.
Zunhui Du, MS, Yanting Zhou, MS, Qiheng Li, MS, Yuan Xie, MS, Tingfang Zhu, MS, Jing Qiao, MS, Ruihong Zhang, BS, Yangyang Bao, MD, PhD, Lingjie Wang, MD, PhD, Yinyin Xie, PhD, Jinwei Quan, MS, Menglu Lin, MS, Ning Zhang, MD, PhD, Qi Jin, MD, PhD, Wenbin Liang, MD, PhD, Liqun Wu, MD, PhD, Tong Yin, MD, PhD, Yucai Xie, MD, PhD   +17 more
doaj   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Single Cell Mechanics in Disease Progression

Small Science, Volume 6, Issue 7, July 2026.
Cells transmit distinct mechanical forces through ECM adhesion and cell–cell junctions and actomyosin‐generated traction forces are transmitted to the substrate through integrin‐based focal adhesions. Mechanical signals are further transmitted to the nucleus via the LINC complex, connecting the cytoskeleton to the nuclear lamina. These forces integrate
Sabin Kim, Jongmin Lee, Kyungtae Lim, Dong‐Hwee Kim   +3 more
wiley   +1 more source

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.

PLoS ONE, 2015
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Cinzia Forleo, Monica Carmosino, Nicoletta Resta, Alessandra Rampazzo, Rosanna Valecce, Sandro Sorrentino, Massimo Iacoviello, Francesco Pisani, Giuseppe Procino, Andrea Gerbino, Arnaldo Scardapane, Cristiano Simone, Martina Calore, Silvia Torretta, Maria Svelto, Stefano Favale   +15 more
doaj   +1 more source