Results 41 to 50 of about 3,472 (172)

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

LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Архивъ внутренней медицины
Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik, A. A. Kovaleva, M. Kh. Shurdumova, D. E. Emelyanovich, A. P. Smirnov, V. Y. Voinova   +5 more
doaj   +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

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

Common Genomic Variation in LMNA Modulates Indexes of Obesity in Inuit

, 2001
"We discovered that rare mutations in LMNA, which encodes lamins A and C, underlie autosomal dominant Dunnigan-type familial partial lipodystrophy.
Hegele, Robert A., Young, T. Kue, Huff, Murray W.   +2 more
core   +1 more source

Age-Acquired Downregulation of Lmna Leads to Epigenetic Deregulation and Altered HSPC Function

, 2021
Hematopoietic stem cells (HSCs) exhibit epigenetic reprogramming and decline in function with aging, and these changes may be predisposing mechanisms for development of clonal hematopoiesis and myeloid malignancies.
Shiekhattar, Ramin, Gaidosh, Gabriel S, Huang, Hsuan-Ting, Bilbao, Daniel, Wade, Dean, Figueroa, Maria E.   +5 more
core   +1 more source

SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells [PDF]

, 2018
LMNA gene encodes lamins A and C, two major components of the nuclear lamina, a network of intermediate filaments underlying the inner nuclear membrane. Most of LMNA mutations are associated with cardiac and/or skeletal muscles defects.
Bertrand A, Bauer D, Gache V, Bonne G, Mejat A, Valla C, Christin E, Chopin E, Ratti F, Cohen T, Streichenberger N, Janin A   +11 more
core   +2 more sources

Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant

Stem Cell Research, 2022
LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement, reduced systolic function, and arrhythmia.
Chelsea Lee, Sangkyun Cho, Celine Lai, Sushma Shenoy, Randall Vagelos, Joseph C. Wu   +5 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^−/−; Tg mice display improved contractile function compared to Lmna^−/− littermates.

, 2012
(A) Representative echocardiograms of Lmna−/−, Lmna−/−; Tg, and control littermates. (B) Normalized left ventricular end-systolic diameter (LVESD) measurements are increased in Lmna−/− hearts compared to control hearts and are improved in 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