Results 31 to 40 of about 473 (164)

PRIMARY (GENETICALLY DETERMINED) DILATION CARDIOMYOPATHY IN A PATIENT WITH NOVEL MUTATION OF LAMIN GENE: CLINICAL AND MORPHOLOGICAL MANAGEMENT

Кардиоваскулярная терапия и профилактика, 2017
The primary diagnosis of “dilation cardiomyopathy” is syndromal, and demands clarification of nosological origins. In the article, the specifics of such diagnostics is discussed.
O. V. Blagova, I. N. Alieva, A. V. Nedostup, V. A. Sulimov, E. A. Kogan, A. G. Shestak, D. A. Zateyshchikov, E. V. Zaklyazminskaya   +7 more
doaj   +1 more source

Consequences of Lmna Exon 4 Mutations in Myoblast Function

Cells, 2020
Laminopathies are causally associated with mutations on the Lamin A/C gene (LMNA). To date, more than 400 mutations in LMNA have been reported in patients.
Déborah Gómez-Domínguez, Carolina Epifano, Fernando de Miguel, Albert García Castaño, Borja Vilaplana-Martí, Alberto Martín, Sandra Amarilla-Quintana, Anne T Bertrand, Gisèle Bonne, Javier Ramón-Azcón, Miguel A Rodríguez-Milla, Ignacio Pérez de Castro   +11 more
doaj   +1 more source

Dialing Down SUN1 for Laminopathies [PDF]

Cell, 2012
Laminopathies, caused by mutations in A-type nuclear lamins, encompass a range of diseases, including forms of progeria and muscular dystrophy. In this issue, Chen et al. provide evidence that elevated expression of the nuclear inner membrane protein SUN1 drives pathology in multiple laminopathies.
Suh, Yousin, Kennedy, Brian K.
openaire   +2 more sources

Genomic instability in laminopathy-based premature aging

, 2005
Premature aging syndromes often result from mutations in nuclear proteins involved in the maintenance of genomic integrity. Lamin A is a major component of the nuclear lamina and nuclear skeleton. Truncation in lamin A causes Hutchinson-Gilford progerial
Huang, JD, Guan, X, Zhou, Z, Cao, Y, LópezOtín, C, Cheah, KSE, Pendas, AM, Tryggvason, K, Wang, J, Cadiñanos, J, Chen, J, Chau, PY, Tse, HF, Hutchison, C, Chan, KM, Tjia, WM, Deng, W, Chen, DJ, Liu, B, Li, KM, Pei, D   +20 more
core   +2 more sources

Nuclear lamins and laminopathies [PDF]

The Journal of Pathology, 2011
AbstractNuclear lamins are intermediate filament proteins that polymerize to form the nuclear lamina on the inner aspect of the inner nuclear membrane. Long known to be essential for maintaining nuclear structure and disassembling/reassembling during mitosis in metazoans, research over the past dozen years has shown that mutations in genes encoding ...
openaire   +2 more sources

Thematic Review Series: Lipid Posttranslational Modifications. Prelamin A, Zmpste24, misshapen cell nuclei, and progeria—new evidence suggesting that protein farnesylation could be important for disease pathogenesis

Journal of Lipid Research, 2005
Prelamin A undergoes multistep processing to yield lamin A, a structural protein of the nuclear lamina. Prelamin A terminates with a CAAX motif, which triggers farnesylation of a C-terminal cysteine (the C of the CAAX motif), endoproteolytic release of ...
Stephen G. Young, Loren G. Fong, Susan Michaelis   +2 more
doaj   +1 more source

Structural and Mechanical Aberrations of the Nuclear Lamina in Disease

Cells, 2020
The nuclear lamins are the major components of the nuclear lamina in the nuclear envelope. Lamins are involved in numerous functions, including a role in providing structural support to the cell and the mechanosensing of the cell.
Merel Stiekema, Marc A. M. J. van Zandvoort, Frans C. S. Ramaekers, Jos L. V. Broers   +3 more
doaj   +1 more source

Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T)

Stem Cell Research, 2021
Peripheral blood mononuclear cells (PBMCs) were harvested and reprogramed to induced pluripotent stem cells (iPSCs) from a 46-year-old male patient with familial dilated cardiomyopathy and atrial fibrillation via a non-integrating system.
Yike Zhang, Yue Zhu, Yongping Lin, Hailei Liu, Hongwu Chen, Weizhu Ju, Chang Cui, Minglong Chen   +7 more
doaj   +1 more source

Soft substrates normalize nuclear morphology and prevent nuclear rupture in fibroblasts from a laminopathy patient with compound heterozygous LMNA mutations [PDF]

, 2013
Laminopathies, mainly caused by mutations in the LMNA gene, are a group of inherited diseases with a highly variable penetrance; i.e., the disease spectrum in persons with identical LMNA mutations range from symptom-free conditions to severe ...
Wijngaard, A van den, Baaijens, FPT Frank, Broers, JLV Jos, Bouten, C.V.C., Verstraeten, VLRM Valerie, Verstraeten, V.L.R.M., Tamiello, C Chiara, Bouten, CVC Carlijn, Baaijens, F.P.T., Tamiello, C., Kamps, Miriam A F Miriam, Bouten, C.V.C.; id_orcid, Wijngaard, van den, A., Broers, J.L.V., Kamps, M.A.   +14 more
core   +1 more source

Data related to article "Cytokine profile in striated muscle laminopathies: new promising biomarkers for disease prediction"

, 2021
This database includes a comprehensive profile of circulating pro- and anti-inflammatory molecules (cytokines, chemokines and growth factors) obtained from a group of 53 patients with muscular laminopathy, 10 with non-muscular laminopathy, 22 with other ...
Politano, Luisa, D'Amico, Adele, Mongini, Tiziana, Tramacere, Irene, Maggi. Lorenzo, Lattanzi, giovanna, D'Apice, Maria R, Bernasconi, Pia, Ricci, Giulia, Siciliano, Gabriele, Carboni, Nicola, Schena, Elisa, Biagini, Elena, Ruggiero, Lucia, Cavalcante,Paola, Gambineri, Alessandra, Vercelli. Liliana, Mantegazza , Renato E, Boriani, Giuseppe, Cristina, Cappelletti, Ziacchi, Matteo   +20 more
core   +1 more source