Results 41 to 50 of about 22,553 (288)

Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso

Galicia Clínica, 2021
UETeM-Molecular Pathology Group, IDIS-CIMUS (Centro de Investigación en Medicina Molecular y Enfermedades Crónicas), Universidadede Santiago de Compostela, Galiza.
David Araújo Vilar, Antía Fernández Pombo   +1 more
doaj   +1 more source

Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants

Journal of the Endocrine Society, 2022
Context Despite several reports of familial partial lipodystrophy (FPLD) type 2 (FPLD2) due to heterozygous LMNA variants and FPLD3 due to PPARG variants, the phenotypic differences among them remain unclear.
Chandna Vasandani, Xilong Li, Hilal Sekizkardes, Rebecca J. Brown, A. Garg   +4 more
semanticscholar   +1 more source

LMNA Reduced Acquired Resistance to Erlotinib in NSCLC by Reversing the Epithelial–Mesenchymal Transition via the FGFR/MAPK/c-fos Signaling Pathway

International Journal of Molecular Sciences, 2022
For patients exhibiting non-small-cell lung cancer (NSCLC) with activating epidermal growth factor receptor (EGFR) mutations, epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) are a first-line treatment.
Chunsheng Hu, Anting Zhou, Xin Hu, Yu Xiang, Mengjun Huang, Jiuhong Huang, Donglin Yang, Yan Tang   +7 more
semanticscholar   +1 more source

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy [PDF]

Human Genome Variation, 2018
AbstractLMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular ...
Akihiko Ishiyama, Aritoshi Iida, Shinichiro Hayashi, Hirofumi Komaki, Masayuki Sasaki, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino   +7 more
openaire   +3 more sources

Down-regulation of the Lamin A/C in neuroblastoma triggers the expansion of tumor initiating cells [PDF]

, 2015
Tumor-initiating cells constitute a population within a tumor mass that shares properties with normal stem cells and is considered responsible for therapy failure in many cancers.
AMENDOLA, Donatella, Bearzi, Claudia, Bucci, Barbara, Camerlingo, Rosalba, CARICO, ELISABETTA, D'Agnano, Igea, DOMINICI, Carlo, Felsani, Armando, Guglielmi, Loredana, Iannetti, Ilaria, Leonetti, Carlo, MARESCA, GIOVANNA, MEGIORNI, Francesca, Mercanti, Delio, MILAN, MARIKA, Musa, Carla, Nardella, Marta, Pirozzi, Giuseppe, Porru, Manuela, Rizzi, Roberto, Sessa, Giuseppe   +20 more
core   +2 more sources

Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X

Frontiers in Cell and Developmental Biology, 2022
In this work, we studied an lmna nonsense mutation encoding for the C-terminally truncated Lamin A/C (LMNA) variant Q517X, which was described in patients affected by a severe arrhythmogenic cardiomyopathy with history of sudden death. We found that LMNA
Roberta De Zio, Giusy Pietrafesa, Serena Milano, Giuseppe Procino, Manuela Bramerio, Martino Pepe, Cinzia Forleo, Stefano Favale, Maria Svelto, Andrea Gerbino, Monica Carmosino   +10 more
doaj   +1 more source

Efficacy and Safety of ARRY-371797 in LMNA-Related Dilated Cardiomyopathy: A Phase 2 Study

Circulation Genomic and Precision Medicine, 2022
Background: Lamin A/C gene (LMNA)-related dilated cardiomyopathy is a serious and life-threatening condition with a high unmet medical need. This phase 2 study assessed the effects of the oral selective p38 mitogen-activated protein kinase inhibitor ARRY-
C. Macrae, Matthew R. G. Taylor, L. Mestroni, J. Moses, E. Ashley, M. Wheeler, N. Lakdawala, R. E. Hershberger, V. Sandor, M. Saunders, Colleen Oliver, Patrice A Lee, D. Judge   +12 more
semanticscholar   +1 more source

LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. [PDF]

PLoS ONE, 2010
The lamin A/C (LMNA), nuclear intermediate filament proteins, is a basic component of the nuclear lamina. Mutations in LMNA are associated with a broad range of laminopathies, congenital diseases affecting tissue regeneration and homeostasis.
Dan Lu, Hong Lian, Xiaojuan Zhang, Haitao Shao, Lan Huang, Chuan Qin, Lianfeng Zhang   +6 more
doaj   +1 more source

Targeting Mitochondria Dysfunction in LMNA Cardiomyopathy. [PDF]

JACC Basic Transl Sci
[Figure: see text] [Figure: see text]
Liu CF, Tang WHW.
europepmc   +3 more sources

Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome [PDF]

, 2018
Background: Progerin, an aberrant protein that accumulates with age, causes the rare genetic disease Hutchinson-Gilford progeria syndrome (HGPS). Patients who have HGPS exhibit ubiquitous progerin expression, accelerated aging and atherosclerosis, and ...
Andrés Manzano, María J., Andrés, Vicente, Bentzon, Jacob F., Gonzalo, Pilar, Hamczyk, Magda Rita, López Otín, Carlos, Nogales, Paula, Villa Bellosta, Ricardo   +7 more
core   +4 more sources