Results 41 to 50 of about 3,734 (156)

Laminopathies: a chromatin affair

, 2006
In the last 5 years, an impressive series of genetic diseases (16 distinct diseased phenotypes have been so far identified), affecting metabolic and/or developmental processes, have been demonstrated to be caused by mutation of LMNA gene and ...
Capanni C, MARALDI, NADIR, Sabatelli P, Squarzoni S, Mattioli E, Columbaro M, MANZOLI, FRANCESCO ANTONIO, Lattanzi G   +7 more
core   +1 more source

Ventricular Tachycardia Ablation in Structural Heart Disease With LVEF > 35%: Clinical Outcomes and Recurrence Patterns

Journal of Cardiovascular Electrophysiology, Volume 37, Issue 9, Page 2031-2038, September 2026.
ABSTRACT Background In patients with structural heart disease (SHD) and moderately impaired left ventricular ejection fraction (LVEF > 35%), data on outcomes after ventricular tachycardia (VT) ablation remain limited. This analysis focuses on VT recurrence after ablation in patients presenting with sustained VT and LVEF > 35% within a secondary ...
Said‐Elias Waezsada, Moneeb Khalaph, Martin Braun, Thomas Fink, Vanessa Sciacca, Nadica Trajkovska, Philipp Lucas, Ersan Akkaya, Maxim Didenko, Mustapha El Hamriti, Guram Imnadze, Denise Guckel, Christian Sohns, Philipp Sommer, Angeliki Darma   +14 more
wiley   +1 more source

Clinical and genetic characteristics of hereditary laminopathies

Анналы клинической и экспериментальной неврологии, 2017
Naminopathies belong to a wide allelic series of diseases caused by mutations of one gene, LMNA, encoding for protein lamin A/C. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive EmeryDreifuss muscular dystrophy ...
E. L. Dadaly, D. S. Bileva, I. V. Ugarov
doaj   +1 more source

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants

Journal of Cardiovascular Development and Disease
Mutations in the LMNA-gene can cause a variety of ‘laminopathies’. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose tissue, peripheral nerves, the heart, such as dilated cardiomyopathy and ...
Hoi W. Wu, Ivo P. Van de Peppel, Julie W. Rutten, J. Wouter Jukema, Emmelien Aten, Ingrid M. Jazet, Tamara T. Koopmann, Daniela Q. C. M. Barge-Schaapveld, Nina Ajmone Marsan   +8 more
doaj   +1 more source

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source

The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation[S]

Journal of Lipid Research, 2009
We investigated the role of LMNA in adipose tissue by developing a novel mouse model of lipodystrophy. Transgenic mice were generated that express the LMNA mutation that causes familial partial lipodystrophy of the Dunnigan type (FPLD2).
Kari M. Wojtanik, Keith Edgemon, Srikant Viswanadha, Brigette Lindsey, Martin Haluzik, Weiping Chen, George Poy, Marc Reitman, Constantine Londos   +8 more
doaj   +1 more source

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Cells, 2020
Variants in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle ...
Héléna Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Olivier Lascols, Marie-Christine Vantyghem, Bruno Fève, Bruno Donadille, Elisabeth Sarrazin, Sophie Benabbou, Jocelyn Inamo, Stéphane Ederhy, Ariel Cohen, Barbara Neraud, Pascale Richard, Fabien Picard, Sophie Christin-Maitre, Alban Redheuil, Karim Wahbi, Corinne Vigouroux   +19 more
doaj   +1 more source

Diversity of Nuclear Lamin A/C Action as a Key to Tissue-Specific Regulation of Cellular Identity in Health and Disease

Frontiers in Cell and Developmental Biology, 2021
A-type lamins are the main structural components of the nucleus, which are mainly localized at the nucleus periphery. First of all, A-type lamins, together with B-type lamins and proteins of the inner nuclear membrane, form a stiff structure—the nuclear ...
Anna Malashicheva, Kseniya Perepelina
doaj   +1 more source

Profiling Co‐Occurrent Morphological Phenotypes and Their Degree of Expression Severity in Vacuolated Cells by Holo‐Tomographic Flow Cytometry and Fractal Analysis

Advanced Intelligent Systems, Volume 8, Issue 7, July 2026.
HTFC gets 3D refractive index tomograms of flowing cells. Label‐free monocytes are engineered to express patterns of cytoplasmic vacuoles. From the tomogram, an efficient dimensionality reduction is operated. Interpretable features are extracted to classify the expression severity of phenotypes coexisting in each cell, visually represented by a seven ...
Marika Valentino, Giusy Giugliano, Daniele Pirone, Fabrizio Licitra, Fulvia Vitale, Pasquale Memmolo, Lisa Miccio, Massimo D’Agostino, Pietro Ferraro, Vittorio Bianco   +9 more
wiley   +1 more source

Clinical and genetic heterogeneity in laminopathies

, 2011
Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging ...
Gisèle Bonne, Anne T. Bertrand, Rabah Ben Yaou, Khadija Chikhaoui   +3 more
core   +1 more source