Results 81 to 90 of about 2,917 (255)

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients

Stem Cell Research, 2022
LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber enlargement, reduced systolic function, and arrhythmia.
Sangkyun Cho, Chelsea Lee, Celine Lai, Yan Zhuge, Francois Haddad, Michael Fowler, Karim Sallam, Joseph C. Wu   +7 more
doaj   +1 more source

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling [PDF]

, 2017
Lamins are intermediate filament proteins that assemble into a meshwork underneath the inner nuclear membrane, the nuclear lamina. Mutations in the LMNA gene, encoding lamins A and C, cause a variety of diseases collectively called laminopathies.
Dialynas, George, Herrmann, Harald, Isermann, Philipp, Jaalouk, Diana E., Lammerding, Jan, Lombardi, Maria L., Mauermann, Monika, Wallrath, Lori L., Zwerger, Monika   +8 more
core  

Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome [PDF]

, 2019
Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder characterized by premature aging features. Cells from HGPS patients express progerin, a truncated form of Lamin A, which perturbs cellular homeostasis leading to nuclear shape alterations,
Aguado J., Cancila V., d'Adda di Fagagna F., Dreesen O., Eriksson M., Jones-Weinert C. W., Lattanzi G., Ong P. F., Revechon G., Rossiello F., Sola-Carvajal A., Tripodo C., Wallen Arzt E.   +12 more
core   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Accumulation of prelamin A compromises NF-kB-regulated B-lymphopoiesis in progeria mouse model. [PDF]

, 2013
published_or_final_versio
Liu, B, Liu, X, Zhang, F, Zhou, K, ZHOU, S, Zhou, Z   +5 more
core   +1 more source

miR‐140‐5p Overexpression Contributes to Oxidative Stress and Mitochondrial Dysfunction in Hutchinson‐Gilford Progeria Syndrome Fibroblasts Through NRF2 Pathway

Aging Cell, Volume 24, Issue 12, December 2025.
This study identifies a novel molecular mechanism involving miR‐140‐5p that contributes to the pathogenesis of HGPS. By decreasing NRF2 expression, miR‐140‐5p overexpression results in downregulation of the NRF2/KEAP1/HO‐1 antioxidant pathway in HGPS fibroblasts, leading to increased oxidative stress and mitochondrial dysfunction, two hallmarks of ...
Léa Toury, Diane Frankel, Sara Nael, Mario Abaji, Léa Le Goff, Marie Basset, Coraline Airault, Bertrand Vernay, Elva María Novoa‐del‐Toro, Catherine Bartoli, Anaïs Baudot, Frederique Magdinier, Elise Kaspi, Patrice Roll   +13 more
wiley   +1 more source

Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

Cells, 2019
Hutchinson-Gilford progeria syndrome (HGPS) is one of the most severe disorders among laminopathies—a heterogeneous group of genetic diseases with a molecular background based on mutations in the LMNA gene and genes coding for interacting proteins.
Katarzyna Piekarowicz, Magdalena Machowska, Volha Dzianisava, Ryszard Rzepecki   +3 more
doaj   +1 more source

SENP6 Maintains Mitochondrial Homeostasis by Regulating Mitochondrial Protein Import Through deSUMOylation of TOM40

Advanced Science, Volume 12, Issue 40, October 27, 2025.
SUMOylation regulates mitochondrial processes, but its impact on protein import remains unclear. TOM40 is identified, a mitochondrial outer membrane channel protein, as a substrate of deSUMOylase SENP6. TOM40 SUMOylation disrupts outer membrane complex assembly, inhibits protein import, and compromises mitochondrial homeostasis.
Liubing Hu, Jianshuang Li, Haolin Guo, Lei Su, Peina Dong, Juan Huang, Yanyan Liu, Xinjie Liu, Zhenhuan Luo, Wei Xiong, Zhenyu Ju, Qinghua Zhou, Hao Wang, Wenjun Wang   +13 more
wiley   +1 more source

A new laminopathy caused by an Arg133/Leu mutation in lamin A/C and the effects thereof on adipocyte differentiation and the transcriptome

Adipocyte, 2019
We report a new laminopathy that includes generalized lipoatrophy, insulin-resistant diabetes, micrognathia and biopsy-proven, focal segmental glomerulosclerosis in a female, caused by a de novo heterozygous mutation R133L in the lamin A/C gene (LMNA ...
Zhe Wang, Yueting Dong, Jing Yang, Yingzi He, Xihua Lin, Fang Wu, Hong Li, Fenping Zheng   +7 more
doaj   +1 more source

A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis [PDF]

, 2012
Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant
Beier, David R., Harrison, Wilbur, Koster, Maranke I., Moran, Jennifer L., Overbeek, Paul A., Roop, Dennis R., Tao, Jianning   +6 more
core   +2 more sources