Results 51 to 60 of about 18,190 (215)

Collagen expression in fibroblasts with a novel LMNA mutation [PDF]

Biochemical and Biophysical Research Communications, 2007
Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies, and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features.
Desiree, Nguyen, Dru F, Leistritz, Lesley, Turner, David, MacGregor, Kamal, Ohson, Paul, Dancey, George M, Martin, Junko, Oshima   +7 more
openaire   +2 more sources

Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy [PDF]

, 2019
Lamin A/C (LMNA) is one of the most frequently mutated genes associated with dilated cardiomyopathy (DCM). DCM related to mutations in LMNA is a common inherited cardiomyopathy that is associated with systolic dysfunction and cardiac arrhythmias. Here we
Churko, J.M., Ilanit Itzhaki, Wang, Paul J, Termglinchan, V., Ameen, Mohamed, Chi Keung Lam, Edward Lau, Joe Z. Zhang, Rinkal Chaudhary, Sebastian Diecke, Karim Sallam, Lau, E., Wang, P.J., Lam, C.K., Lee, Jaecheol, Seeger, Timon, Sallam, Karim, Wu, H., Mohamed Ameen, Garg, Priyanka, Ioannis Karakikes, Sallam, K., Joseph C. Wu, Gil, I.P., Itzhaki, Ilanit, Wu, Haodi, Jaecheol Lee, Gil, Isaac Perea, Rhee, J.W., Priyanka Garg, Chang, H.Y., Zhang, Joe Z, Xingqi Chen, Vittavat Termglinchan, Karakikes, Ioannis, June-Wha Rhee, Diecke, Sebastian, Chen, X., Chour, T., Chour, Tony, Lee, J., Michael P. Snyder, Greenhaw, M., Chaudhary, Rinkal, Wu, J.C., Timon Seeger, Greenhaw, Matthew, Itzhaki, I., Matthew Greenhaw, Lau, Edward, Paul J. Wang, Diecke, S., Rhee, June-Wha, Ameen, M., Churko, Jared M, Snyder, Michael P, Zhang, J.Z, Chen, Xingqi, Snyder, M.P., Haodi Wu, Termglinchan, Vittavat, Chang, Howard Y, Seeger, T., Lam, Chi Keung, Howard Y. Chang, Garg, P., Tony Chour, Wu, Joseph C, Isaac Perea Gil, Chaudhary, R., Karakikes, I., Jared M. Churko   +71 more
core   +1 more source

Acanthosis nigricans as a diagnostic clue for familial partial lipodystrophy type 2: a case report with review of literature on Japanese cases

Endocrine Journal
Familial partial lipodystrophy (FPLD) is a rare inherited disorder characterized by limb adipose tissue atrophy and metabolic abnormalities, including severe insulin resistance.
Takuya Kitamura, Toru Kusakabe, Yuki Ishihara, Tetsuya Tagami, Kazuwa Nakao   +4 more
doaj   +1 more source

Clinical trial in a dish using iPSCs shows lovastatin improves endothelial dysfunction and cellular cross-talk in LMNA cardiomyopathy

, 2023
     Mutations in LMNA, the gene that encodes lamin A and C, causes LMNA-related dilated cardiomyopathy (DCM) or cardiolaminopathy. LMNA is expressed in endothelial cells (ECs); however, little is known about the EC-specific phenotype of LMNA-related DCM.
Chun Liu (14353307)
core   +2 more sources

Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation. [PDF]

PLoS ONE, 2010
Lamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause multiple human diseases including cardiac and skeletal myopathies.
Stephanie K Mewborn, Megan J Puckelwartz, Fida Abuisneineh, John P Fahrenbach, Yuan Zhang, Heather MacLeod, Lisa Dellefave, Peter Pytel, Sara Selig, Christine M Labno, Karen Reddy, Harinder Singh, Elizabeth McNally   +12 more
doaj   +1 more source

Reactivation of autophagy amelioratesLMNAcardiomyopathy [PDF]

Autophagy, 2013
Mutations in the LMNA gene, which encodes lamin A and C (lamin A/C), cause a diverse spectrum of tissue-selective diseases termed laminopathies. The most prevalent form affects striated muscles as dilated cardiomyopathy with variable skeletal muscle involvement, which includes autosomal Emery-Dreifuss muscular dystrophy.
Jason C, Choi, Howard J, Worman
openaire   +2 more sources

Lmna^−/−; Tg mice show improved conduction parameters compared to Lmna^−/− mice by ECG analysis.

, 2012
(A) Box-and-whiskers plot of pooled Lmna+/+ PR intervals (N = 5) compared with single animal PR intervals for each of the following genetic backgrounds at 5-7 weeks of age: Lmna+/+; Tg, Lmna−/− and Lmna−/−; Tg.
Carmen Lau (143381), Peter S. Rabinovitch (143397), Antoine Muchir (143385), Dao-Fu Da (143377), Diana N. Pak (143383), Steven C. Chen (143374), Howard J. Worman (143387), Christina Brown (143382), Richard L. Frock (143372), Warren C. Ladiges (143394), Luis F. Santana (143390), Ellie Frett (143379), Yuexia Wang (143384), Brian K. Kennedy (79500)   +13 more
core   +1 more source

An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration

BMC Medical Genomics, 2023
LMNA gene encodes lamin A/C protein which participates in the construction of nuclear lamina, the mutations of LMNA result in a wide variety of diseases known as laminopathies.
Lei Chang, Rong Huang, Jianzhou Chen, Guannan Li, Guangfei Shi, Biao Xu, Lian Wang   +6 more
doaj   +1 more source

The response to cardiac resynchronization therapy in LMNA cardiomyopathy

European Journal of Heart Failure, 2022
Aims Cardiac implantable electronic device (CIED) therapy is fundamental to the management of LMNA cardiomyopathy due to the high frequency of atrioventricular block and ventricular tachyarrhythmias. We aimed to define the role of cardiac resynchronization therapy (CRT) in impacting heart failure in LMNA ...
Sidhu K., Castrini A. I., Parikh V., Reza N., Owens A., Tremblay-Gravel M., Wheeler M. T., Mestroni L., Taylor M., Graw S., Gigli M., Merlo M., Paldino A., Sinagra G., Judge D. P., Ramos H., Mesubi O., Brown E., Turnbull S., Kumar S., Roy D., Tedrow U. B., Ngo L., Haugaa K., Lakdawala N. K.   +24 more
openaire   +4 more sources

LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile

, 2020
Laminopathies are a family of monogenic multi-system diseases resulting from mutations in the LMNA gene which include a wide range of neuromuscular disorders. Although lamins are expressed in most types of differentiated cells, LMNA mutations selectively
Elena V. Ignatieva, Oksana A. Ivanova, Dmitrii E. Polev, Alexey Sergushichev, Renata I. Dmitrieva, Anna A. Kostareva, Margarita Y. Komarova, Natalia V. Khromova   +7 more
core   +1 more source