Results 51 to 60 of about 3,144 (163)

Emerin Deletions Occurring on Both Xq28 Inversion Backgrounds [PDF]

Human Molecular Genetics, 1998
Emery-Dreifuss muscular dystrophy (EMD) is an X-linked disorder characterized by contractures, progressive weakness and cardiomyopathy. EMD is caused by mutations in the 2 kb emerin gene that is located within human Xq28. Emerin is immediately distal to the 26 kb filamin gene, and flanking the filamin-emerin region are two large inverted repeats.
K, Small, S T, Warren
openaire   +2 more sources

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

Annals of Clinical and Translational Neurology, 2021
Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data.
Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski   +16 more
doaj   +1 more source

Sono‐Mechanogenetics: Linking Ultrasound Physics With Cellular Mechanobiology

Advanced Science, Volume 13, Issue 33, 15 June 2026.
Sono‐mechanogenetics links ultrasound physics with cellular mechanotransduction to enable noninvasive control of engineered biological systems. Acoustic forces generate distinct deformation modes that activate intracellular signaling pathways, which can be coupled to synthetic gene circuits to regulate diverse cellular functions, including gene ...
Yunjia Qu, Fan Wei, Chi Woo Yoon, Qifa Zhou, Yingxiao Wang   +4 more
wiley   +1 more source

Dissociation of Emerin from Barrier-to-autointegration Factor Is Regulated through Mitotic Phosphorylation of Emerin in a Xenopus Egg Cell-free System [PDF]

Journal of Biological Chemistry, 2005
Emerin is the gene product of STA whose mutations cause Emery-Dreifuss muscular dystrophy. It is an inner nuclear membrane protein and phosphorylated in a cell cycle-dependent manner. However, the means of phosphorylation of emerin are poorly understood.
Yasuhiro, Hirano, Masashi, Segawa, Fumiko S, Ouchi, Yoshio, Yamakawa, Kazuhiro, Furukawa, Kunio, Takeyasu, Tsuneyoshi, Horigome   +6 more
openaire   +2 more sources

Barrier-to-autointegration factor proteome reveals chromatin-regulatory partners. [PDF]

PLoS ONE, 2009
Nuclear lamin filaments and associated proteins form a nucleoskeletal ("lamina") network required for transcription, replication, chromatin organization and epigenetic regulation in metazoans.
Rocío Montes de Oca, Christopher J Shoemaker, Marjan Gucek, Robert N Cole, Katherine L Wilson   +4 more
doaj   +1 more source

Nuclear Entanglement: New Insights Into the Role of Cytoskeleton and Nucleoskeleton in Plant Nuclear Function

Cytoskeleton, Volume 83, Issue 6, Page 354-375, June 2026.
ABSTRACT Of the three types of cytoskeleton known in animals—actin, microtubules, and intermediate filaments—only actin and microtubules exist in plants. Both play important roles in cellular shaping, organelle movement, organization of the endomembrane system, and cell signaling.
Norman R. Groves, Katelyn Amstutz, Lily A. Schumacher, Iris Meier   +3 more
wiley   +1 more source

Emerin Deregulation Links Nuclear Shape Instability to Metastatic Potential [PDF]

Cancer Research, 2018
Abstract Abnormalities in nuclear shape are a well-known feature of cancer, but their contribution to malignant progression remains poorly understood. Here, we show that depletion of the cytoskeletal regulator, Diaphanous-related formin 3 (DIAPH3), or the nuclear membrane–associated proteins, lamin A/C, in prostate and breast cancer ...
Mariana Reis-Sobreiro, Jie-Fu Chen, Tatiana Novitskaya, Sungyong You, Samantha Morley, Kenneth Steadman, Navjot Kaur Gill, Adel Eskaros, Mirja Rotinen, Chia-Yi Chu, Leland W.K. Chung, Hisashi Tanaka, Wei Yang, Beatrice S. Knudsen, Hsian-Rong Tseng, Amy C. Rowat, Edwin M. Posadas, Andries Zijlstra, Dolores Di Vizio, Michael R. Freeman   +19 more
openaire   +3 more sources

Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice.

PLoS ONE, 2019
Laminopathies are tissue-selective diseases that affect differently in organ systems. Mutations in nuclear envelopes, emerin (Emd) and lamin A/C (Lmna) genes, cause clinically indistinguishable myopathy called Emery-Dreifuss muscular dystrophy (EDMD) and
Eiji Wada, Megumi Kato, Kaori Yamashita, Hiroko Kokuba, Wen-Chen Liang, Gisèle Bonne, Yukiko K Hayashi   +6 more
doaj   +1 more source

Sequence and structural alignments reveal insights into ANKLE2 evolution and function

Protein Science, Volume 35, Issue 6, June 2026.
Abstract ANKLE2 is an enigmatic protein with emerging roles in cell division, development, and virus replication. While ANKLE2 orthologs are present in all animals, its domain composition has evolved over time. ANKLE2's two namesake domains, the ankyrin repeat and LEM domains (named for LAP2, Emerin, and MAN1), have clear and defined roles; however ...
Adam T. Fishburn, Cole J. Florio, Chase L. S. Skawinski, Sydney S. Becker, Ethan Holleman, Avery E. Robertson, Rees Sitchon, Frédéric Chédin, Priya S. Shah   +8 more
wiley   +1 more source

Elevation of the mechanically-sensitive protein emerin links nuclear mechanotransduction to tau-induced cytoskeletal remodeling in neurons

Nucleus
Neurodegenerative tauopathies, including Alzheimer’s disease, are neuropathologically defined by pathological tau deposition. While tau drives neurotoxicity by disrupting cytoskeletal, nucleoskeletal, and genomic architecture, cellular mechanisms ...
Claira Sohn, Sammy Pardo, Dana Molleur, Satvik R. Paduri, Morgan Lambert, Zachary Uttke, Erich J. Sohn, Morgan G. Thomas, Susan T. Weintraub, Bess Frost   +9 more
doaj   +1 more source