Results 101 to 110 of about 473 (164)

Genotype‐guided cardiac device intervention in LMNA‐related cardiac conduction disorder: The need for timely genetic testing

European Journal of Heart Failure, Volume 27, Issue 9, Page 1788-1792, September 2025.
Shunsuke Inoue, Zhehao Dai, Tsukasa Oshima, Seitaro Nomura, Takashi Hiruma, Ryo Abe, Kanna Fujita, Manami Katoh, Toshiyuki Ko, Yu Shimizu, Masamichi Ito, Kenichiro Yamagata, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Hiroyuki Morita, Katsuhito Fujiu, Norihiko Takeda, Issei Komuro   +19 more
wiley   +1 more source

Lamin A/C, laminopathies and premature ageing.

Histology and histopathology, 2008
Lamin A/C belongs to type V intermediate filaments and constitutes the nuclear lamina and nuclear matrix, where a variety of nuclear activities occur. Lamin A/C protein is firstly synthesized as a precursor and is further proteolytically processed by the zinc metallo-proteinase Ste24 (Zmpste24).
Zhou, Z, Liu, B
openaire   +4 more sources

The role of A-Type lamins and LAP2a in cellular ageing of human fibroblasts in vitro [PDF]

, 2005
Mutations in LMNA gene have been linked to a number of age-related tissue-specific diseases and premature ageing syndromes termed laminopathies. The finding that A- type lamins affect longevity and maintenance of a number of somatic tissues makes them ...
PekovicÌ, Vanja, Peković, Vanja
core  

Pathological Features in the LmnaDhe/+ Mutant Mouse Provide a Novel Model of Human Otitis Media and Laminopathies

, 2012
Genetic predisposition is recognized as an important pathogenetic factor in otitis media (OM) and associated diseases. Mutant Lmna mice heterozygous for the disheveled hair and ears allele (LmnaDhe/+) exhibit early-onset, profound hearing deficits and ...
Zheng, Qing Yin, Han, Fengchan, Xu, Min, Jin Zhang, Cindy Benedict-Alderfer, Kim, Suejin, Zhang, Jin, Elisha Fredman, Min Xu, Yu, Heping, Heping Yu, Suejin Kim, Yan Zhang, Tian, Cong, Fengchan Han, Qing Yin Zheng, Zhang, Yan, Cong Tian, Fredman, Elisha, Benedict-Alderfer, Cindy   +19 more
core   +1 more source

Clustering cell nuclei on microgrooves for disease diagnosis using deep learning

Scientific Reports
Various diseases including laminopathies and certain types of cancer are associated with abnormal nuclear mechanical properties that influence cellular and nuclear deformations in complex environments.
Bettina Roellinger, Francois Thenier, Claire Leclech, Catherine Coirault, Elsa Angelini, Abdul I. Barakat   +5 more
doaj   +1 more source

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

, 2019
The phenotypic heterogeneity of Lamin A/C (LMNA) variants renders it difficult to classify them. As a consequence, many LMNA variants are classified as variant of unknown significance (VUS). A number of studies reported different types of visible nuclear
Miriam A. F. Kamps, Kamps, Miriam, Lindsey, Patrick, Ramaekers, F.C.S., Lindsey, Patrick J., Kamps, Miriam A. F., van Tienen, Florence; id_orcid, van Tienen, Florence, Krapels, Ingrid, Ramaekers, Frans, Patrick J. Lindsey, Arthur van den Wijngaard, Ingrid P. Krapels, Brunner, H.G., Frans C. S. Ramaekers, Broers, J.L., Jos L. V. Broers, van den Wijngaard, Arthur, Han G. Brunner, Wijngaard, A. van den, Krapels, Ingrid P., Brunner, Han, Florence H. J. van Tienen, Tienen, F.H. van, Broers, Jos   +24 more
core   +1 more source

Induced pluripotent stem cell platforms for disease modelling of skeletal muscle laminopathies [PDF]

, 2018
Laminopathies are a clinically and genetically heterogeneous group of 16 disorders caused by mutations in LMNA. This gene codes for lamin A and lamin C, which together with lamin B1 and B2 form the nuclear lamina, a mesh-like structure located underneath
Steele-Stallard, Heather
core  

An inside-out approach to nuclear mechanics: Genetic engineering of an in vitro laminopathy model

, 2016
Laminopathies are a group of genetic diseases affecting the nuclear lamina of metazoan cells with mutations in the genes LMNA, LMNB1, and LMNB2, which code for intermediate filament proteins called lamins.
Thompson, Matthew
core  

Gene therapy for striated muscle laminopathy

, 2022
International ...
Brull, Astrid, Paradis, Valérie, Bertrand, Anne T., Okubo, Mariko, Bertrand, Anne T, Beuvin, Maud, Bonne, Gisèle, Nelson, Isabelle, Mougenot, Nathalie, Julien, Laura   +9 more
core  

Skin Disease in Laminopathy-Associated Premature Aging

, 2015
The nuclear lamina, a protein network located under the nuclear membrane, has during the past decade found increasing interest due to its significant involvement in a range of genetic diseases, including the segmental premature aging syndromes Hutchinson–
Eriksson, Maria, Sola Carvajal, Agustín, Eriksson, M,, McKenna, T, McKenna, Tomás, Sola, Carvajal A,   +5 more
core   +1 more source