Results 121 to 130 of about 23,382 (212)

Olmesartan Restores LMNA Function in Haploinsufficient Cardiomyocytes

Circulation
BACKGROUND: Gene mutations are responsible for a sizeable proportion of cases of heart failure. However, the number of patients with any specific mutation is small. Repositioning of existing US Food and Drug Administration–approved compounds to target specific mutations is a promising approach to efficient identification of new
Eric J. Kort, Nazish Sayed, Chun Liu, Gema Mondéjar-Parreño, Jens Forsberg, Emily Eugster, Sean M. Wu, Joseph C. Wu, Stefan Jovinge   +8 more
openaire   +2 more sources

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  

Perinuclear organelle trauma at the nexus of cardiomyopathy pathogenesis arising from loss of function LMNA mutation

Nucleus
Over the past 25 years, nuclear envelope (NE) perturbations have been reported in various experimental models with mutations in the LMNA gene. Although the hypothesis that NE perturbations from LMNA mutations are a fundamental feature of striated muscle ...
Jason C. Choi
doaj   +1 more source

遺伝子変異による先天性筋線維タイプ不均等症に関する検討 [PDF]

, 2013
博士（医学） 甲第566号（主論文の要旨、要約）博士（医学 ...
梶野 幸子
core   +1 more source

Posttranslational Modifications of Lamin A/C and Cardiac Aging: A Short Review

Journal of the Practice of Cardiovascular Sciences
Cardiac aging is considered as natural and age-related changes in the heart, which can lead to a decline in heart function. Cardiac aging increases the risk of heart failure, atrial fibrillation, and other cardiovascular complications.
Vikas Tiwari, Samhita Chakraborty, Sanjay K. Banerjee   +2 more
doaj   +1 more source

LMNA Gene [PDF]

, 2020
openaire   +1 more source

Characterization of cardiac involvement in patients with LMNA splice-site mutation–related dilated cardiomyopathy and sudden cardiac death

Frontiers in Genetics
Introduction:LMNA splicing mutations occur in 9.1% of cases with cardiac involvement cases, but the phenotype and severity of disease they cause have not yet been systematically studied. The aim of this study was to understand the clinical and pathogenic
Xuebin Ling, Yanjun Hou, Xingyu Jia, Youling Lan, Xiaoping Wu, Julan Wu, Wei Jie, Hui Liu, Shan Huang, Zhenling Wan, Tianfa Li, Junli Guo, Tiebiao Liang   +12 more
doaj   +1 more source

LMNA Gene Product [PDF]

, 2020
openaire   +1 more source

LMNA wt Allele [PDF]

, 2020
openaire   +1 more source

N of 2 Responders With LMNA-NTRK1 [PDF]

JNCI: Journal of the National Cancer Institute, 2015
Chih-Jian, Lih, Alice P, Chen
openaire   +2 more sources