Results 21 to 30 of about 6,857 (212)

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

Case Reports in Genetics, 2020
This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.
Xiafei Dai, Rong Luo, Yang Chen, Chenqing Zheng, Yibin Tang, Hongmei Zhang, Ye Su, Tao He, Xiaoping Li   +8 more
doaj   +1 more source

Probing the environment of emerin by Enhanced ascorbate peroxidase 2 (APEX2)-mediated proximity labeling. [PDF]

, 2020
Emerin is one of the best characterized proteins of the inner nuclear membrane, but can also occur at the level of the endoplasmic reticulum. We now use enhanced ascorbate peroxidase 2 (APEX2) to probe the environment of emerin.
James, C., Kehlenbach, R., Lenz, C., Müller, M., Urlaub, H.   +4 more
core   +1 more source

Role of Cdkn2a in the Emery–Dreifuss Muscular Dystrophy Cardiac Phenotype

Biomolecules, 2021
The Cdkn2a locus is one of the most studied tumor suppressor loci in the context of several cancer types. However, in the last years, its expression has also been linked to terminal differentiation and the activation of the senescence program in ...
Gloria Pegoli, Marika Milan, Pierluigi Giuseppe Manti, Andrea Bianchi, Federica Lucini, Philina Santarelli, Claudia Bearzi, Roberto Rizzi, Chiara Lanzuolo   +8 more
doaj   +1 more source

Nuclear Envelope, Nuclear Lamina, and Inherited Disease [PDF]

, 2005
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases.
Courvalin, Jean-Claude, Worman, Howard,
core   +4 more sources

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

BMC Pediatrics, 2022
Background Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies.
Kristy Iskandar, Sunartini, Farida Niken Astari, Rizki Amalia Gumilang, Nissya Ilma, Ni Putu Shartyanie, Guritno Adistyawan, Grace Tan, Gunadi, Poh San Lai   +9 more
doaj   +1 more source

Generation of a laminopathies-specific iPSC line EHTJUi005-A-3 with homozygous knockout of the LMNA gene by CRISPR/Cas9 technology

Stem Cell Research, 2021
LAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope.
Ji-Zhen Lu, Zhi-Bin Qiao, Lu Zhang, Hong-Xia Cao, Zhi-Hui Bai, Yi-Yao Qi, Han-Yu Zhu, Ya-Qi Chen, Shou-Mei Zhang, Xiu-Hua Yan, Yan Bao, Wen-Wen Jia, Zhong-Min Liu   +12 more
doaj   +1 more source

Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations [PDF]

, 2005
Gene-poor human chromosomes are reproducibly found at the nuclear periphery in proliferating cells. There are a number of inner nuclear envelope proteins that may have roles in chromosome location and anchorage, e.g. emerin and A-type lamins.
Bridger, JM, Levy, N, Meaburn, KJ, Toniolo, D   +3 more
core   +1 more source

Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy

JACC: Case Reports, 2020
A 24-year-old man with muscle cramps and a family history of sudden death presented with palpitations. Electrocardiography showed signs of left ventricular hypertrophy and nonsustained ventricular tachycardia, and imaging studies confirmed hypertrophic ...
M. Scott Binder, MD, Emily Brown, MGC, CGC, Thomas Aversano, MD, Kathryn R. Wagner, MD, PhD, Hugh Calkins, MD, Andreas S. Barth, MD, PhD   +5 more
doaj   +1 more source

Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]

, 2016
Peer ...
Hackman, Peter, Sarparanta, Jaakko, Savarese, Marco, Udd, Bjarne, Vihola, Anna   +4 more
core   +2 more sources

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy

Folia Neuropathologica, 2017
Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined.
Irena Niebroj-Dobosz, Beata Sokołowska, Agnieszka Madej-Pilarczyk, Michał Marchel, Irena Hausmanowa-Petrusewicz   +4 more
doaj   +1 more source