Results 51 to 60 of about 4,186 (177)

A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy

Cells, 2023
Barrier-to-autointegration factor (BAF) is an essential component of the nuclear lamina. Encoded by BANF1, this DNA binding protein contributes to the regulation of gene expression, cell cycle progression, and nuclear integrity.
Agathe Marcelot, Felipe Rodriguez-Tirado, Philippe Cuniasse, Mei-ling Joiner, Simona Miron, Alexey A. Soshnev, Mimi Fang, Miles A. Pufall, Katherine D. Mathews, Steven A. Moore, Sophie Zinn-Justin, Pamela K. Geyer   +11 more
doaj   +1 more source

Emerin expression in early development of Xenopus laevis

European Journal of Cell Biology, 2005
Emerin is an integral protein of the inner nuclear membrane in the majority of differentiated vertebrate cells. In humans, deficiency of emerin causes a progressive muscular dystrophy of the Emery-Dreifuss type. The physiological role of emerin is poorly understood.
Martin, Gareiss, Kathrin, Eberhardt, Eleonora, Krüger, Sebastian, Kandert, Carolin, Böhm, Hanswalter, Zentgraf, Clemens R, Müller, Marie-Christine, Dabauvalle   +7 more
openaire   +2 more sources

Astrocyte Mechanobiology: Linking Biomechanical Forces to Biochemical Signaling in the Central Nervous System

Glia, Volume 74, Issue 7, July 2026.
Astrocytes are key sensors and transducers of biomechanical stimuli within the central nervous system. Astrocyte development is highly dependent on mechanical stimuli such as surrounding tissue stiffness and biomechanical strain. Mechanosensory pathways including integrins, connexins and pannexins, and mechanosensitive channels regulate astrocyte ...
Ana N. Strat, Alima Ahmed, Mariano Viapiano, Preethi S. Ganapathy   +3 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

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Frontiers in Cell and Developmental Biology, 2019
Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery ...
Tejas Dharmaraj, Youchen Guan, Julie Liu, Catherine Badens, Benedicte Gaborit, Katherine L. Wilson   +5 more
doaj   +1 more source

Single Cell Mechanics in Disease Progression

Small Science, Volume 6, Issue 7, July 2026.
Cells transmit distinct mechanical forces through ECM adhesion and cell–cell junctions and actomyosin‐generated traction forces are transmitted to the substrate through integrin‐based focal adhesions. Mechanical signals are further transmitted to the nucleus via the LINC complex, connecting the cytoskeleton to the nuclear lamina. These forces integrate
Sabin Kim, Jongmin Lee, Kyungtae Lim, Dong‐Hwee Kim   +3 more
wiley   +1 more source

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

Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology

European Journal of Histochemistry, 2009
The present review summarizes recent cytochemical findings on the functional organization of the nuclear domains, with a particular emphasis on the relation between nuclear envelope- associated proteins and chromatin.
NM Maraldi, G Lattanzi, P Sabatelli, A Ognibene, M Columbaro, C Capanni, C Rutigliano, E Mattioli, S Squarzoni   +8 more
doaj   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, Volume 36, Issue 4, July 2026.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +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