Results 71 to 80 of about 3,472 (172)

LMNA persists and colocalizes with the spindle apparatus during metaphase in Lmna^Dhe/+ cells.

, 2013
(A–F) Immunodetection of Lamin A (green;A,B,E,F) and α-Tubulin (red; C–F) in Lmna+/+(A,C,E) and LmnaDhe/+ (B,D,F) fibroblasts. Labeling indicates persistence of Lamin A in mitotic cells and colocalization with α-Tubulin during metaphase of mutant cells ...
Michelle Curtain (354067), C. Herbert Pratt (354066), Leah Rae Donahue (116359), Lindsay S. Shopland (354068)   +3 more
core   +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

Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation

Stem Cell Research, 2022
Dilated cardiomyopathy (DCM) is a refractory heart disease characterized by dilation of the left ventricle and systolic dysfunction. LMNA, the gene encoding lamin A/C (a nuclear envelope protein), is the second leading causative gene associated with ...
Yuzuno Shimoda, Nobuyuki Murakoshi, Haruka Mori, DongZhu Xu, Kazuko Tajiri, Yasuko Hemmi, Iori Sato, Michiya Noguchi, Yukio Nakamura, Yohei Hayashi, Masaki Ieda   +10 more
doaj   +1 more source

Multifocal Epithelioid Hemangioma With FOSB Overexpression

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Epithelioid hemangioma (EH) is a benign vascular tumor that most commonly arises on the skin but may also occur in other anatomical locations, including deep soft tissue, bone, visceral organs, penis, and mucosal sites. A hallmark of EH is overexpression of FOS and FOSB, often resulting from various gene fusions.
Phuong Daniels, Aarush Kumar, Alexa Lum, Izabelle Bermudez, Shannon DeSilva, Jonathan Crane, Kristopher McKay   +6 more
wiley   +1 more source

Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations

, 2012
Objective: Mutations in LMNA have been linked to diverse disorders called laminopathies, which display heterogeneous phenotypes and include diseases affecting muscles, axonal neurons, progeroid syndromes, and lipodystrophies.
Moises, Regina S. [UNIFESP], Valerio, Cynthia M., Mory, Patricia B. [UNIFESP], Dib, Sergio A. [UNIFESP], Godoy-Matos, Amelio F., Salles, Joao Eduardo N., Crispim, Felipe, Freire, Maria Beatriz S.   +7 more
core   +1 more source

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. [PDF]

PLoS ONE, 2015
This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD).
Dandan Tan, Haipo Yang, Yun Yuan, Carsten Bonnemann, Xingzhi Chang, Shuang Wang, Yuchen Wu, Xiru Wu, Hui Xiong   +8 more
doaj   +1 more source

Autosomal-Recessive LMNA Dilated Cardiomyopathy

JACC: Case Reports
Variants in the LMNA gene (which encodes intermediate filaments lamin A and lamin C) result in a variety of phenotypes that include overlapping features, such as progeroid syndromes, muscular dystrophies, peripheral neuropathies, lipodystrophies, and cardiac disease (including dilated cardiomyopathy and conduction disorders).We describe a case of ...
Sterner, Rosalie M., Coon, Lea M., Black, John L., Moyer, Ann M., Maleszewski, Joseph J., Baudhuin, Linnea M.   +5 more
openaire   +3 more sources

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Deep brain stimulation outcomes and management of childhood‐onset dystonia and associated hyperkinetic movements disorders

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey, Laura Ainaga, Eva Maria Navarrete Muñoz, Verity McClelland, Keyoumars Ashkan, Richard Selway, Harutomo Hasegawa, Daniel E Lumsden, Jean‐Pierre Lin, Hortensia Gimeno   +9 more
wiley   +1 more source

Investigating LMNA-Related Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

, 2021
LMNA-related dilated cardiomyopathy is an inherited heart disease caused by mutations in the LMNA gene encoding for lamin A/C. The disease is characterized by left ventricular enlargement and impaired systolic function associated with conduction defects ...
Ronen Ben Jehuda, Yuval Shemer, Eisen, Binyamin, Binyamin Eisen, Gerull, Brenda, Polina Baskin, Mihaela Gherghiceanu, Gherghiceanu, Mihaela, Shulman, Rita, Danielle Regev, Shemer, Yuval, Baskin, Polina, Ben Jehuda, Ronen, Eyal Gottlieb, Brenda Gerull, Mekies, Lucy N., Gottlieb, Eyal, Eloisa Arbustini, Michael Arad, Ofer Binah, Arad, Michael, Lucy N. Mekies, Binah, Ofer, Regev, Danielle, Arbustini, Eloisa, Rita Shulman   +25 more
core   +1 more source