Results 51 to 60 of about 5,533 (240)

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

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

Structure and stability of the lamin A tail domain and HGPS mutant [PDF]

, 2011
Hutchinson–Gilford progeria syndrome (HGPS) is a premature aging syndrome caused by the expression and accumulation of a mutant form of lamin A, Δ50 lamin A.
Buehler, Markus J, Dahl, Kris Noel, Kalinowski, Agnieszka, Qin, Zhao   +3 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

A Perspective on the Experimental Techniques for Studying Lamins [PDF]

, 2017
3Lamins are type V intermediate filaments that collectively form a meshwork underneath the inner nuclear membrane, called nuclear lamina. Furthermore, they are also present in the nucleoplasm.
Daniele Borin, Ilaria Pecorari, Orfeo Sbaizero   +2 more
core   +1 more source

The fat‐heart entanglement and the role of ‘osteopontin mechanics’ in cardiometabolic senescence

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Abstract Background Residual cardiovascular (CV) risk persists despite therapeutic advances. Obesity is heterogeneous, and visceral adipose tissue (VAT) dysfunction (‘adiposopathy’) complicates risk stratification. Osteopontin (OPN) is a pleiotropic mediator implicated in VAT inflammation, senescence‐associated pathways, atherosclerosis and myocardial ...
Cristina Michelauz, Fabrizio Montecucco, Luca Liberale, Federico Carbone   +3 more
wiley   +1 more source

The empowerment of translational research: lessons from laminopathies

Orphanet Journal of Rare Diseases, 2012
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009.
Benedetti Sara, Bernasconi Pia, Bertini Enrico, Biagini Elena, Boriani Giuseppe, Capanni Cristina, Carboni Nicola, Cenacchi Giovanna, Columbaro Marta, D'Adamo Monica, D’Amico Adele, D’Apice Maria, Fontana Marianna, Gambineri Alessandra, Lattanzi Giovanna, Liguori Rocco, Maraldi Nadir M, Mazzanti Laura, Mercuri Eugenio, Mongini Tiziana, Morandi Lucia O, Neri Iria, Nigro Giovanni, Novelli Giuseppe, Ortolani Michela, Pasquali Renato, Pini Antonella, Petrini Stefania, Politano Luisa, Previtali Stefano, Pucci Lisa, Rapezzi Claudio, Ricci Giulia, Rodolico Carmelo, Sbraccia Paolo, Scarano Emanuela, Siciliano Gabriele, Squarzoni Stefano, Toscano Antonio, Vercelli Liliana, Ziacchi Matteo   +40 more
doaj   +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

Epithelial stem cells In Hutchinson-Gilford progeria syndrome [PDF]

, 2015
Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two rare genetic disorders that affect children. Complications from cardiovascular disease, including atherosclerosis, are the most common cause of death in HGPS, which ...
McKenna, Tomás
core   +1 more source