Results 51 to 60 of about 473 (164)

Lipodystrophic laminopathies: Diagnostic clues [PDF]

Nucleus, 2018
The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery.
Cristina Guillín-Amarelle, Antía Fernández-Pombo, Sofía Sánchez-Iglesias, David Araújo-Vilar   +3 more
openaire   +3 more sources

Lamin B1 safeguards the B cell genome and shapes lymphoma outcome

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract Lamin B1 is a structural component of the nuclear lamina that participates in genome organization and transcriptional control. During adaptive immune responses, B lymphocytes in germinal centers (GCs) undergo clonal expansion and programmed DNA damage at immunoglobulin loci, while simultaneously downregulating Lamin B1.
Filip Filipsky, Katarina B. Chapman, Johannes Bloehdorn, Oscar Maiques, Abigail Lee, Andrew Clear, Jun Wang, John Gribben, Michael Hausmann, Christoph Cremer, Andrejs Braun, Marta C. Sallan, Tanya Klymenko   +12 more
wiley   +1 more source

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

The Application of Clinical Genetics, 2020
Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF   +5 more
doaj  

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

Mitotic defects lead to pervasive aneuploidy and accompany loss of RB1 activity in mouse LmnaDhe dermal fibroblasts. [PDF]

PLoS ONE, 2011
Lamin A (LMNA) is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350) and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; OMIM ID# 176670)
C Herbert Pratt, Michelle Curtain, Leah Rae Donahue, Lindsay S Shopland   +3 more
doaj   +1 more source

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B

Nucleus, 2023
Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA.
Kamsi O. Odinammadu, Khurts Shilagardi, Kelsey Tuminelli, Daniel P. Judge, Leslie B. Gordon, Susan Michaelis   +5 more
doaj   +1 more source

Electro‐Mechanical Dissociation in Chagas Cardiomyopathy: Comparative Analysis of Arrhythmic Burden Beyond LVEF

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
Despite matched clinical characteristics and LVEF, patients with Chagas cardiomyopathy exhibit a significantly higher arrhythmic burden compared to ischemic cardiomyopathy. This electro‐mechanical dissociation highlights the necessity of sudden death risk stratification strategies that extend beyond traditional ejection fraction thresholds.
Luis E. Echeverría, Lyda Z. Rojas, Angie Yarlady Serrano‐García, Yina T. Ariza, Carlos Luengas, Rachel Marcus, Carlos A. Morillo, Sergio A. Gómez‐Ochoa   +7 more
wiley   +1 more source

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient

Frontiers in Cardiovascular Medicine, 2022
Pathogenic variants in the LMNA gene are known to cause laminopathies, a broad range of disorders with different clinical phenotypes. LMNA genetic variants lead to tissue-specific pathologies affecting various tissues and organs. Common manifestations of
Kseniya Perepelina, Kseniya Perepelina, Anastasia Zaytseva, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Malashicheva, Anna Kostareva, Anna Kostareva   +10 more
doaj   +1 more source

Recent Advances in Animal and Human Pluripotent Stem Cell Modeling of Cardiac Laminopathy

, 2016
Laminopathy is a disease closely related to deficiency of the nuclear matrix protein lamin A/C or failure in prelamin A processing, and leads to accumulation of the misfold protein causing progeria.
Jiang, Y, Lee, YK, Wing-Hon Kevin Lai, Lai, KWH, Xin-Ru Ran, Kwong-Man Ng, Lau, YM, Chung-Wah Siu, Hung-Fat Tse, Siu, CW, Yee-Man Lau, Ran, X, Tse, HF, Yee-Ki Lee, Ng, KM, Yu Jiang   +15 more
core   +1 more source

Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain

Developmental Dynamics, Volume 255, Issue 2, Page 187-208, February 2026.
Abstract Background In mammals, specific brain regions such as the dentate gyrus (DG) of the hippocampus and the subventricular zone (SVZ) of the lateral ventricles harbor adult neural stem/progenitor cells (ANSPCs) that give rise to new neurons and contribute to structural and functional brain plasticity.
Diana Zhilina, Lizbeth A. Bolaños Castro, Juan Sebastian Eguiguren, Sara Zocher, Anne Karasinsky, Dimitri Widmer, Alexandre Espinós, Victor Borrell, Michael Brand, Kyoko Miura, Oliver Zierau, Maximina H. Yun, Tomohisa Toda   +12 more
wiley   +1 more source