Results 71 to 80 of about 1,238 (171)

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

Whole‐Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families

Human Mutation, Volume 2026, Issue 1, 2026.
Background Muscular dystrophies (MDs) are a genetically heterogeneous group of disorders, posing significant diagnostic challenges, especially in populations with high consanguinity. Despite advances in genetic testing, a substantial proportion of patients remain undiagnosed.
Nasibeh Soltani, Zahra Shahbazi, Mohammad Sadegh Fallah, Morteza Karimipoor, Hamideh Bagherian, Samira Dabbagh Bagheri, Tina Shirzadeh, Fatemeh Zafarghandi Motlagh, Gelareh Rabie Salehi, Shahrzad Younesikhah, Sadaf Asnavandi, Razie Zeinali, Ziba Majidi, Sirous Zeinali, Neetu Rawal   +14 more
wiley   +1 more source

Mechanical Stress Triggers Premature Senescence in Cardiac Fibroblasts

Advanced Science, Volume 12, Issue 47, December 18, 2025.
Cellular senescence contributes to disease burden in cardiovascular disease (CVD) and aging, highlighting the need to understand its induction. In primary cardiac fibroblasts, reduced strain and increased frequency, mimicking CVD, elicit a distinct senescent phenotype compared to oxidative stress.
Stephanie E. Schneider, Adrienne K. Scott, Katie M. Gallagher, Emily Y. Miller, Soham Ghosh, Corey P. Neu   +5 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

Linking skeletal muscle aging with osteoporosis by lamin A/C deficiency.

PLoS Biology, 2020
The nuclear lamina protein lamin A/C is a key component of the nuclear envelope. Mutations in the lamin A/C gene (LMNA) are identified in patients with various types of laminopathy-containing diseases, which have features of accelerated aging and ...
Lei Xiong, Kai Zhao, Yu Cao, Hao-Han Guo, Jin-Xiu Pan, Xiao Yang, Xiao Ren, Lin Mei, Wen-Cheng Xiong   +8 more
doaj   +1 more source