Results 91 to 100 of about 1,703 (200)

Cardiovascular Involvement in SYNE Variants: A Case Series and Narrative Review

Cardiogenetics
Cardiac laminopathies encompass a wide range of diseases caused by defects in nuclear envelope proteins, including cardiomyopathy, atrial and ventricular arrhythmias and conduction system abnormalities.
Francesco Ravera, Veronica Dusi, Pier Paolo Bocchino, Giulia Gobello, Giuseppe Giannino, Daniele Melis, Giulia Margherita Brach Del Prever, Filippo Angelini, Andrea Saglietto, Carla Giustetto, Guglielmo Gallone, Stefano Pidello, Margherita Cannillo, Marco Matteo Cingolani, Silvia Deaglio, Walter Grosso Marra, Gaetano Maria De Ferrari, Claudia Raineri   +17 more
doaj   +1 more source

AN ORPHAN PHENOTYPE OF CARDIOGENITAL LAMINOPATHY — MALOUF SYNDROME

Российский кардиологический журнал, 2016
Recent decades significantly increased the spectrum of monogenic diseases associated with mutations in the gene of lamin A/C (LMNA), that codes the proteins group performing important functions in the nucleus.
T. G. Vaykhanskaya, L. N. Sivitskaya, N. G. Danilenko, T. V. Kurushko, O. G. Nizhnikova, O. G. Davydenko   +5 more
doaj   +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

Clinical and diagnostic difficulties in management of patients with laminopathies

Российский кардиологический журнал, 2019
Mutations in the LMNA gene cause developing of several phenotypes, both with isolated involvement of cardiac, muscle, adipose and bone tissues, and with their combination.
O. V. Melnik, A. B. Malashicheva, Yu. V. Fomicheva, A. A. Khudyakov, A. Ya. Gudkova, D. I. Rudenko, M. A. Simonenko, Е. N. Mikhailov, D. S. Lebedev, E. S. Vasichkina, T. M. Pervunina, A. A. Kostareva   +11 more
doaj   +1 more source

Hepatocyte-Specific Deletion of Mouse Lamin A/C Leads to Male-Selective SteatohepatitisSummary

Cellular and Molecular Gastroenterology and Hepatology, 2017
Background & Aims: Lamins are nuclear intermediate filament proteins that comprise the major components of the nuclear lamina. Mutations in LMNA, which encodes lamins A/C, cause laminopathies, including lipodystrophy, cardiomyopathy, and premature aging
Raymond Kwan, Graham F. Brady, Maria Brzozowski, Sujith V. Weerasinghe, Hope Martin, Min-Jung Park, Makayla J. Brunt, Ram K. Menon, Xin Tong, Lei Yin, Colin L. Stewart, M. Bishr Omary   +11 more
doaj   +1 more source

The Structural Basis of ZMPSTE24-Dependent Laminopathies

Science, 2013
Lamin Loppers The nuclear lamina provides mechanical stability to the nuclear envelope and is involved in regulation of cellular processes such as DNA replication. Defects in the nuclear lamina lead to diseases such as progeria and metabolic disorders.
Quigley, A, Dong, Y, Pike, A, Dong, L, Shrestha, L, Berridge, G, Stansfeld, P, Sansom, MS, Edwards, A, Bountra, C, von Delft, F, Bullock, A, Burgess-Brown, N, Carpenter, E   +13 more
openaire   +2 more sources

Inflammatory myopathy in the context of an unusual overlapping laminopathy

Archives of Endocrinology and Metabolism, 2018
Summary Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial ...
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F. Casanueva, David Araújo-Vilar   +8 more
doaj   +1 more source

Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death

BMC Cardiovascular Disorders, 2019
Background Patients with some mutations in the lamin A/C (LMNA) gene are characterized by the presence of dilated cardiomyopathy (DCM), conduction abnormalities, ventricular tachyarrhythmias (VT), and sudden cardiac death (SCD). Various clinical features
Tetsuro Yokokawa, Shohei Ichimura, Naoko Hijioka, Takashi Kaneshiro, Akiomi Yoshihisa, Hiroyuki Kunii, Kazuhiko Nakazato, Takafumi Ishida, Osamu Suzuki, Seiko Ohno, Takeshi Aiba, Hiroshi Ohtani, Yasuchika Takeishi   +12 more
doaj   +1 more source

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants [PDF]

, 2019
The phenotypic heterogeneity of Lamin A/C (LMNA) variants renders it difficult to classify them. As a consequence, many LMNA variants are classified as variant of unknown significance (VUS). A number of studies reported different types of visible nuclear
Miriam A. F. Kamps, Kamps, Miriam, Lindsey, Patrick, Ramaekers, F.C.S., Lindsey, Patrick J., Kamps, Miriam A. F., van Tienen, Florence; id_orcid, van Tienen, Florence, Krapels, Ingrid, Ramaekers, Frans, Patrick J. Lindsey, Arthur van den Wijngaard, Ingrid P. Krapels, Brunner, H.G., Frans C. S. Ramaekers, Broers, J.L., Jos L. V. Broers, van den Wijngaard, Arthur, Han G. Brunner, Wijngaard, A. van den, Krapels, Ingrid P., Brunner, Han, Florence H. J. van Tienen, Tienen, F.H. van, Broers, Jos   +24 more
core   +1 more source

Chromatin dysfunction in stem cells facilitates aging in laminopathy-based progeria

, 2023
Nuclear lamins, including A- and B-type lamins, are type V intermediate filament (IF) proteins that are ubiquitously expressed in vertebrates. A variety of human diseases are caused by LMNA mutations, collectively called laminopathies.
金威, Jin, Wei
core