Results 101 to 110 of about 2,390 (199)

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

Microvesicles secreted by macrophages shuttle invasion-potentiating microRNAs into breast cancer cells [PDF]

, 2011
Background Tumor-associated macrophages (TAMs) are alternatively activated cells induced by interleukin-4 (IL-4)-releasing CD4+ T cells. TAMs promote breast cancer invasion and metastasis; however, the mechanisms underlying these interactions between ...
Mei Yang, Jingqi Chen, Fang Su, Bin Yu, Fengxi Su, Ling Lin, Yujie Liu, Jian-Dong Huang, Erwei Song   +8 more
core   +3 more sources

Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.
ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz, Carla Bolano‐Díaz, Alejandro Gonzalez‐Chamorro, Sam Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gomez‐Andres, Javier Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge Alfredo Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoska, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James Lilleker, Mark Roberts, Bianca Buchignani, Jinhong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sarkozy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera, the Myo‐Guide Consortium   +58 more
wiley   +1 more source

Nuclear envelope defects cause stem cell dysfunction in premature-aging mice [PDF]

, 2012
et al.Nuclear lamina alterations occur in physiological aging and in premature aging syndromes. Because aging is also associated with abnormal stem cell homeostasis, we hypothesize that nuclear envelope alterations could have an important impact on stem ...
Espada, Jesús, Pendás, Alberto M.
core   +2 more sources

The role of inner nuclear membrane protein emerin in myogenesis

The FASEB Journal, Volume 39, Issue 7, 15 April 2025.
Emerin function is critical for proper genome reorganization and temporal gene expression necessary for terminal myogenic differentiation. Emerin interacts with both HDAC3 and histone methyltransferases (HMTs) to organize chromatin at the inner nuclear membrane.
Nicholas Marano, James M. Holaska
wiley   +1 more source

Intrabody-mediated diverting of HP1β to the cytoplasm induces co-aggregation of H3-H4 histones and lamin-B receptor [PDF]

, 2015
Diverting a protein from its intracellular location is a unique property of intrabodies. To interfere with the intracellular traffic of heterochromatin protein 1β (HP1β) in living cells, we have generated a cytoplasmic targeted anti-HP1β intrabody ...
Ainsztein, Akhtar, Alessio Cardinale, Aucott, Bannister, Billur, Biocca, Brown, Bult, Butler, Canzio, Cardinale, Cardinale, Cardinale, Cheutin, Chiti, Cohen, Cowell, Dialynas, Filesi, Filesi, Griffin, Hawkins, Horsley, Ilaria Filesi, Jannot, Jenuwein, Jones, Kirilyuk, Kourmouli, Krebber, Kvam, Lachner, Lavigne, Lechner, Lee, Lener, Lo, Luijsterburg, Mateos-Langerak, Meehan, Minc, Monneret, Muchardt, Nakayama, Nishibuchi, Olins, Olzscha, Orlandi, Ostermeier, Peric-Hupkes, Persic, Poleshko, Polioudaki, Prim B. Singh, Rajpal, Sblattero, Silva, Silvia Biocca, Singh, Smothers, Soria, Taddei, Uversky, Wang, Wreggett, Ye, Ye, Zhang, Zhu   +69 more
core   +1 more source

Human pluripotent stem cells as tools for high-throughput and high-content screening in drug discovery [PDF]

, 2015
A significant bottleneck in drug discovery is the lack of suitable models for sensitive, reliable, and rapid assessment of lead molecules in preclinical stages of drug discovery.
Allison, T.F., Andrews, P.W., Barbaric, I., Biga, V., Powles-Glover, N.S.   +4 more
core   +1 more source

The laminopathies: nuclear structure meets disease

Current Opinion in Genetics & Development, 2003
Most inherited diseases are associated with mutations in a specific gene. Sometimes, mutations in two or more different genes result in diseases with a similar phenotype. Rarely do different mutations in the same gene result in a multitude of seemingly different and unrelated diseases.
Cancer and Developmental Biology Laboratory, National Cancer Institute at Frederick, PO Box B, Frederick, Maryland 21702, USA ( host institution ), Mounkes, Leslie, Kozlov, Serguei, Burke, Brian, Stewart, Colin L   +4 more
openaire   +3 more sources

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

Specific nuclear envelope transmembrane proteins can promote the location of chromosomes to and from the nuclear periphery [PDF]

, 2013
BACKGROUND: Different cell types have distinctive patterns of chromosome positioning in the nucleus. Although ectopic affinity-tethering of specific loci can be used to relocate chromosomes to the nuclear periphery, endogenous nuclear envelope proteins ...
David A Kelly, David J Harrison, Dzmitry G Batrakou, Eric C Schirmer, Glenn E Morris, Jose I de las Heras, K Natalie Randles, Nadia Korfali, Nikolaj Zuleger, Shelagh Boyle, Vassiliki Lazou, Wendy A Bickmore, Zuleger, Nikolaj   +12 more
core   +3 more sources