Results 21 to 30 of about 2,390 (199)

Genomic instability and DNA replication defects in progeroid syndromes [PDF]

, 2018
Progeroid syndromes induced by mutations in lamin A or in its interactors – named progeroid laminopathies – are model systems for the dissection of the molecular pathways causing physio- logical and premature aging.
Chiara Merigliano, Fiammetta Vernì, Isabella Saggio, Mattia La Torre, Romina Burla   +4 more
core   +1 more source

Alterations to nuclear architecture and genome behavior in senescent cells. [PDF]

, 2007
The organization of the genome within interphase nuclei, and how it interacts with nuclear structures is important for the regulation of nuclear functions.
Abney J.R., Agrelo R., Barboro P., Becker P.B., Bemiller P.M., Benn P.A., Berezney R., Bowman P.D., Bridger J.M., Bridger J.M., C. S. CLEMENTS, Campisi J., Chaly N., Chang K.S., Cremer T., de Lange T., Dell'Orco R.T., Dijkwel P.A., Ferbeyre G., Filesi I., Fisher A.G., Fleischer S., Goldman R.D., Gruenbaum Y., Haque F., Hernandez-Verdun D., Holliday R., Hozak P., I. R. KILL, I. S. MEHTA, J. M. BRIDGER, Kill I.R., Kreth G., Lezhava T., Li Y., M. FIGGITT, Mallette F.A., Manuelidis L., Mazin A.L., Mitsui Y., Mukherjee A.B., Nickerson J., Okabe J., Padiath Q.S., Pawelec G., Petrova N.V., Schardin M., Schulz L., Smilenov L.B., Strouboulis J., Tanabe H., van Driel R., Wang G.S.   +52 more
core   +1 more source

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

, 2016
published_or_final_versio
Jiang, Y, Lai, KWH, Lau, VYM, Lee, YK, Ng, KM, RAN, X, Siu, DCW, Tse, HF   +7 more
core   +1 more source

Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]

, 2018
Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide, Cicchilitti, Lucia, Di Blasio, Anna Maria, Garofalo, Cecilia, Gentilini, Davide, Lattanzi, Giovanna, Mai, Antonello, Mattioli, Elisabetta, Piaggio, Giulia, Prencipe, Sabino, Remondini, Daniel, Scarano, Emanuela, Scotlandi, Katia, Valente, Sergio   +13 more
core   +2 more sources

Dilated cardiomyopathy: reconceptualization of the problem

Российский кардиологический журнал, 2019
Dilated cardiomyopathy (DCM) is a complex, etiologically heterogeneous myocardial disease, which is one of the main causes of heart failure and heart transplantation.
T. G. Vaykhanskaya, L. N. Sivitskaya, T. V. Kurushko, O. D. Levdansky, N. G. Danilenko   +4 more
doaj   +1 more source

SIRTain regulators of premature senescence and accelerated aging. [PDF]

, 2015
The sirtuin proteins constitute class III histone deacetylases (HDACs). These evolutionarily conserved NAD(+)-dependent enzymes form an important component in a variety of cellular and biological processes with highly divergent as well as convergent ...
Ghosh, S, Zhou, Z
core   +1 more source

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

TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders [PDF]

, 2008
Aicardi-Goutieres syndrome (AGS) is an unusual condition that clinically mimics a congenital viral infection. Several genes have recently been implicated in the aetiology of this disorder. One of these genes encodes the DNA exonuclease TREX1. Recent work
Aicardi, Akira, Alderton, Alderton, Bartek, Bartkova, Brennan, Brucet, Chen, Chowdhury, Crow, Crow, de Silva, DiTullio, Driscoll, Gasser, Griffith, Griffiths, Höss, Jazayeri, Kawai, Lee-Kirsch, Lee-Kirsch, Lieberman, Lieberman, Lindahl, Lindahl, Liu, Liu, Liu, Mark O’Driscoll, Martinvalet, Mazur, Mazur, Morita, Napirei, O’Driscoll, O’Driscoll, Qiu, Raulet, Rhodes, Rice, Richards, Shevelev, Stiff, Stiff, Takaoka, Tran, Tsukumo, Vyse, Walport, Yang, Yasutomo, Zou, Zou   +54 more
core   +1 more source

Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients

Cells, 2019
Emerin is an essential LEM (LAP2, Emerin, MAN1) domain protein in metazoans and an integral membrane protein associated with inner and outer nuclear membranes.
Magda Dubińska-Magiera, Katarzyna Kozioł, Magdalena Machowska, Katarzyna Piekarowicz, Daria Filipczak, Ryszard Rzepecki   +5 more
doaj   +1 more source

Genetic cardiomyopathy mimicking isolated cardiac sarcoidosis: Diagnostic challenges with positron emission tomography. [PDF]

ESC Heart Fail
ESC Heart Failure, Volume 12, Issue 3, Page 2347-2352, June 2025.
Nishijo D, Inoue S, Dai Z, Nomura S, Abe R, Hiruma T, Bujo C, Oshima T, Katoh M, Shimizu Y, Ito M, Yamagata K, Ishida J, Amiya E, Takeda N, Fujiu K, Hatano M, Morita H, Takeda N, Komuro I.   +19 more
europepmc   +2 more sources