Results 21 to 30 of about 864,168 (128)

Cell-extrinsic defective lymphocyte development in Lmna(-/-) mice. [PDF]

PLoS ONE, 2010
Mutations in the LMNA gene, which encodes all A-type lamins, result in a variety of human diseases termed laminopathies. Lmna(-/-) mice appear normal at birth but become runted as early as 2 weeks of age and develop multiple tissue defects that mimic ...
J Scott Hale, Richard L Frock, Sara A Mamman, Pamela J Fink, Brian K Kennedy   +4 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

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Human Mutation, Volume 41, Issue 6, Page 1091-1111, June 2020., 2020
The location of causative variants leading to the filaminopathies A are mapped onto FLNA protein monomers. Variants leading to ‘loss‐of‐function’ disorders (left monomer) and ‘gain‐of‐function’ disorders (right monomer) can clearly be seen to cluster. ‘Hotspot’ regions are marked with larger symbols.
Job A. J. Verdonschot, Els K. Vanhoutte, Godelieve R. F. Claes, Apollonia T. J. M. Helderman‐van den Enden, Janneke G. J. Hoeijmakers, Debby M. E. I. Hellebrekers, Amber de Haan, Imke Christiaans, Ronald H. Lekanne Deprez, Hanne M. Boen, Emeline M. van Craenenbroeck, Bart L. Loeys, Yvonne M. Hoedemaekers, Carlo Marcelis, Marlies Kempers, Esther Brusse, Jaap I. van Waning, Annette F. Baas, Dennis Dooijes, Folkert W. Asselbergs, Daniela Q. C. M. Barge‐Schaapveld, Pieter Koopman, Arthur van den Wijngaard, Stephane R. B. Heymans, Ingrid P. C. Krapels, Han G. Brunner   +25 more
wiley   +1 more source

Effects of ultra-purified polymerized bovine hemoglobin on local tissue oxygen tension in striated skin muscle - An efficacy study in the hamster [PDF]

, 2002
The development of hemoglobin-based oxygen carriers has been propagated for replacement of the oxygen carrying properties of red blood cells for almost one century.
Nolte, Dirk, Botzlar, Andreas, Steinhauser, Peter   +2 more
core   +1 more source

Oxidative Stress in Muscle Diseases: Current and Future Therapy 2019

, 2020
Oxidative Medicine and Cellular Longevity, Volume 2020, Issue 1, 2020.
Andrey Jorge Serra, José Renato Pinto, Marko D. Prokić, Gisela Arsa, Andrea Vasconsuelo   +4 more
wiley   +1 more source

Altered protein dynamics of disease-associated lamin A mutants

BMC Cell Biology, 2004
Background Recent interest in the function of the nuclear lamina has been provoked by the discovery of lamin A/C mutations in the laminopathy diseases. However, it is not understood why mutations in lamin A give such a range of tissue-specific phenotypes.
Worman Howard J, Östlund Cecilia, Perry Paul, Gilbert Nick, Gilchrist Susan, Bickmore Wendy A   +5 more
doaj   +1 more source

Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies

Oxidative Medicine and Cellular Longevity, Volume 2019, Issue 1, 2019., 2019
Ankrd2 (ankyrin repeats containing domain 2) or Arpp (ankyrin repeat, PEST sequence, and proline‐rich region) is a member of the muscle ankyrin repeat protein family. Ankrd2 is mostly expressed in skeletal muscle, where it plays an intriguing role in the transcriptional response to stress induced by mechanical stimulation as well as by cellular ...
Vittoria Cenni, Snezana Kojic, Cristina Capanni, Georgine Faulkner, Giovanna Lattanzi, Andrey J. Serra   +5 more
wiley   +1 more source

Epigenetic Alterations in Muscular Disorders

International Journal of Genomics, Volume 2012, Issue 1, 2012., 2012
Epigenetic mechanisms, acting via chromatin organization, fix in time and space different transcriptional programs and contribute to the quality, stability, and heritability of cell‐specific transcription programs. In the last years, great advances have been made in our understanding of mechanisms by which this occurs in normal subjects.
Chiara Lanzuolo, Daniela Palacios
wiley   +1 more source

Nesprin-1 LINC complexes recruit microtubule cytoskeleton proteins and drive pathology in Lmna-mutant striated muscle

, 2022
Mutations in LMNA, the gene encoding A-type lamins, cause laminopathies—diseases of striated muscle and other tissues. The aetiology of laminopathies has been attributed to perturbation of chromatin organization or structural weakening of the nuclear ...
Hong, Wei Liang, Ei Leen Leong, Wei Liang Hong, Colin L Stewart, Werner, Hendrikje, Burke, Brian, Hendrikje Werner, Cadot, Bruno, Esther Sook Miin Wong, Nyein Thet Khaing, Bruno Cadot, Brian Burke, Leong, Ei Leen, Yin Loon Lee, Stewart, Colin, Lee, Yin Loon, Khaing, Nyein Thet, Serguei Kozlov, Kozlov, Serguei, Wong, Esther Sook Miin   +19 more
core   +1 more source

Functional characterization of LINC complex protein assemblies and their role in laminopathies [PDF]

, 2013
LINC (Linker of nucleoskeleton and cytoskeleton) complexes connect the nucleoskeleton to the cytoskeleton by interactions among LINC complex proteins and their interactions to proteins in the nucleus and the cytosol.
Yang, Liu
core   +1 more source