Results 11 to 20 of about 473 (164)

Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset [PDF]

Orphanet Journal of Rare Diseases, 2019
Objective To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation.
Raffaello Ditaranto, Giuseppe Boriani, Mauro Biffi, Massimiliano Lorenzini, Maddalena Graziosi, Matteo Ziacchi, Ferdinando Pasquale, Giovanni Vitale, Alessandra Berardini, Rita Rinaldi, Giovanna Lattanzi, Luciano Potena, Sofia Martin Suarez, Maria Letizia Bacchi Reggiani, Claudio Rapezzi, Elena Biagini   +15 more
doaj   +4 more sources

Familial cardiac laminopathy with predominant atrial involvement: a case series of a family with LMNA mutation

European Heart Journal - Case Reports
International audienceAbstract Background We present a case series detailing a family with familial cardiac laminopathy, including the female index patient, her father, her brother, and her daughter, all diagnosed with atrial arrhythmias, i.e.
, Romain Vergier, Astrid Monfort
exaly   +2 more sources

Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His

Stem Cell Research, 2021
Cardiac laminopathy caused by mutations in the LMNA gene are common and highly penetrant with a poor prognosis. We have generated a novel human induced pluripotent stem cell(iPSC) lines YCMi003-A from a patient with dilated cardiomyopathy associated with
Jaewon Oh, Sun-Ho Lee, Jungyoon Choi, Jong Rak Choi, Sangwoo Kim, Yun-Ji Cha, Hyo-Kyoung Choi, Dongju Won, Ho-Geun Yoon, Sahng Wook Park, Seok-Min Kang, Seung-Tae Lee, Seung-Hyun Lee   +12 more
doaj   +1 more source

Post-Translational Modification of Lamins: Mechanisms and Functions

Frontiers in Cell and Developmental Biology, 2022
Lamins are the ancient type V intermediate filament proteins contributing to diverse biological functions, such as the maintenance of nuclear morphology, stabilization of chromatin architecture, regulation of cell cycle progression, regulation of spatial-
Mingyue Zheng, Guoxiang Jin, Zhongjun Zhou   +2 more
doaj   +1 more source

Laminopathies and Atherosclerosis [PDF]

Arteriosclerosis, Thrombosis, and Vascular Biology, 2004
Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. Some laminopathies affect the cardiovascular system, and a few (namely, Dunnigan-type familial partial lipodystrophy [FPLD2 ...
Khalid Z, Al-Shali, Robert A, Hegele
openaire   +2 more sources

Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts [PDF]

, 2018
Significance The lamin proteins are an important component of the nuclear scaffold. Abnormal lamins can cause a variety of disorders called laminopathies, one of which is the premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS).
Stephen T. Lichtenstein, Leslie B. Gordon, Francis S. Collins, Amanda J. DuBose, Noreen M. Petrash, Michael R. Erdos   +5 more
core   +2 more sources

IFN-Aging: Coupling Aging With Interferon Response

Frontiers in Aging, 2022
Chronic inflammation affects many diseases and conditions, including aging. Interferons are a part of the immune defense against viral infections. Paradoxically, various aging tissues and organs from mammalian hosts perpetually accumulate changes brought
Wei Cao
doaj   +1 more source

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy [PDF]

, 2021
Purpose: Lamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, termed laminopathies.
Jackson, Andrew P., H. Brittain, Suri, Mohnish, L.J. Jones, D. Kasperaviciute, Mueller, M., L.C. Daugherty, A. Rendon, Alan J. Quigley, Mason, J., J. Mason, Moira Blyth, Brittain, H., Jones, L. J., Gillian Rea, Craig, C. E. H., Murugaesu, N., Patch, C., Andrew P. Jackson, Pereira, M. B., E.M. McDonagh, F. Maleady-Crowe, Leigh, S. E. A., Rahim, T., N. Murugaesu, H.E. Stevens, Furió-Tarí, P., Lahnstein, L., Donnelly, Deirdre, Perez-Gil, D., Foulger, R. E., P. Riesgo-Ferreiro, Jackson, R., E.R.A. Thomas, A. de Burca, Savage, K., T. Fowler, Kayikci, M., A. Kousathanas, A. Stuckey, McKenna, Caoimhe, T.J.P. Hubbard, Scott, R. H., R. Sultana, Hackett, J. M., McDonagh, E. M., C. Patch, Maleady-Crowe, F., Polychronopoulos, D., Tucci, A., Rea, Gillian, K. Sawant, S.A. Watters, M.J. Welland, Victoria Harrison, Greville-Heygate, Stephanie, L. Moutsianas, D. Polychronopoulos, Sosinsky, A., F.J. Lopez, M. Mueller, Riesgo-Ferreiro, P., J. Pullinger, R. Jackson, Elgar, G., E. Williams, Williams, E., Leong, I. U. S., A. Siddiq, A. Sosinsky, K. Ibáñez, Fowler, T., Philip Greene, A.C. Need, Thompson, S. R., R.H. Scott, K. Lawson, Lisa Robertson, E.L. Baple, Tanguy, M., Lynn Greenhalgh, Walsh, E., Rogers, T., Lachlan, Katherine, Kasperaviciute, D, Caulfield, M. J., Smedley, D., Stevens, H. E., E. Walsh, Henderson, S., M.J. Caulfield, Blyth, Moira, Lawson, K., Sawant, K., Quigley, Alan J., Martin, Carol Anne, Moutsianas, L., Holman, J. E., A. Devereau, A. Orioli, C. Tregidgo, A. Tucci, Katherine Lachlan, C.R. Boustred, Sieghart, A., M. Bleda, Chan, G. C., K. Witkowska, T. Rahim, Smith, K. R., Joseph A. Marsh, M. Tanguy, J.C. Ambrose, Harrison, Victoria, S.M. Wood, de Burca, A., Wood, S. M., S. Henderson, Halai, D., A. Sieghart, M.B. Pereira, David A. Parry, Cox, Helen, J.M. Boissiere, D. Halai, C.E.H. Craig, S.E.A. Leigh, A. Giess, Boardman-Pretty, F., Daugherty, L. C., Greene, Philip, Orioli, A., Kousathanas, A., Sultana, R., Ryten, M., Bleda, M., D. Smedley, Deirdre Donnelly, Zarowiecki, M., Smith, S. C., G. Elgar, C.A. Odhams, Odhams, C. A., I.U.S. Leong, M. Ryten, Devereau, Andrew; id_orcid, Carol-Anne Martin, Hamblin, A., Helen Cox, K.R. Smith, S.R. Thompson, W. Spooner, G.C. Chan, Boissiere, J. M., Giess, A., Boustred, C. R., Stephanie Greville-Heygate, Need, A. C., Pullinger, J., Siddiq, A., Tregidgo, C., P. Arumugam, Baple, E. L., Thomas, E. R. A., R.E. Foulger, Rendon, A., Stuckey, A., J.M. Hackett, Lopez, F. J., Ibáñez, K., Spooner, W., J.E. Holman, S.C. Smith, Hubbard, T. J. B., P. Furió-Tarí, D. Perez-Gil, Welland, M. J., K. Savage, Robertson, Lisa, A. Hamblin, M. Zarowiecki, Caoimhe McKenna, Marsh, Joseph A., Mohnish Suri, Parry, David A., F. Boardman-Pretty, T. Rogers, M. Kayikci, Watters, S. A., Witkowska, K., Arumugam, P., Greenhalgh, Lynn, Ambrose, J. C., L. Lahnstein   +193 more
core   +2 more sources

The Interplay between Oxidative Stress and the Nuclear Lamina Contributes to Laminopathies and Age-Related Diseases

Cells, 2023
Oxidative stress is a physiological condition that arises when there is an imbalance between the production of reactive oxygen species (ROS) and the ability of cells to neutralize them.
Lidya Kristiani, Youngjo Kim
doaj   +1 more source

Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C

Frontiers in Endocrinology, 2021
PurposeFamilial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases of
Carolina Cecchetti, M. Rosaria D’Apice, Elena Morini, Giuseppe Novelli, Giuseppe Novelli, Carmine Pizzi, Uberto Pagotto, Alessandra Gambineri   +7 more
doaj   +1 more source