Results 91 to 100 of about 24,019 (217)

Reciprocal knock-in mice to investigate the functional redundancy of lamin B1 and lamin B2. [PDF]

, 2014
Lamins B1 and B2 (B-type lamins) have very similar sequences and are expressed ubiquitously. In addition, both Lmnb1- and Lmnb2-deficient mice die soon after birth with neuronal layering abnormalities in the cerebral cortex, a consequence of defective ...
Coffinier, Catherine, de Jong, Pieter J, Fong, Loren G, Jung, Hea-Jin, Lee, John M, Nobumori, Chika, Tatar, Angelica, Tu, Yiping, Wu, Daniel, Yoshinaga, Yuko, Young, Stephen G   +10 more
core  

Temporal Stretch‐Induced Nuclear Mechanosensing Coordinates Early Chromatin Accessibility and Genome Protection

Advanced Science, Volume 13, Issue 5, 27 January 2026.
Cyclic stretching of fibroblasts triggers coordinated nuclear mechanosensing events, including calcium ion release, perinuclear actin assembly, emerin translocation, and H3K9me3 loss, increasing chromatin accessibility for specific genes related to mechanotransduction and repair.
Hye‐Won Shim, Ji‐Young Yoon, Hwalim Lee, Shanika Karunasagara, Cheng Ji Li, Yongdae Shin, Sukbum Hong, Dong‐Joon Lee, Jung‐Hwan Lee, Kam W. Leong, Hae‐Won Kim   +10 more
wiley   +1 more source

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.

PLoS ONE, 2015
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Cinzia Forleo, Monica Carmosino, Nicoletta Resta, Alessandra Rampazzo, Rosanna Valecce, Sandro Sorrentino, Massimo Iacoviello, Francesco Pisani, Giuseppe Procino, Andrea Gerbino, Arnaldo Scardapane, Cristiano Simone, Martina Calore, Silvia Torretta, Maria Svelto, Stefano Favale   +15 more
doaj   +1 more source

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

Cells, 2020
Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations of the LMNA gene or related nuclear envelope genes. The variety of clinical phenotypes and the wide spectrum of histopathological changes among patients carrying ...
Cristina Cappelletti, Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano, Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi, Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi   +20 more
doaj   +1 more source

Early Onset Heart Failure due to RBM20 Variant: A Case Report Emphasizing Genetic Diagnosis and Arrhythmic Risk Stratification

Clinical Case Reports, Volume 14, Issue 1, January 2026.
Transthoracic echocardiography demonstrating biventricular dilatation. Parasternal long‐ and short‐axis views and apical four‐ and two‐chamber views show marked left ventricular dilatation with increased end‐diastolic volume, associated with right ventricular dilatation.
Cristian Orlando Porras Bueno, Cesar Augusto Balaguera, Alejandro Mariño Correa, Edward Andrés Cáceres Méndez   +3 more
wiley   +1 more source

Mapping of PTP1B, TCPTP, SHP2, and Putative Substrates Reveals Novel Networks in Glomerular Podocytes

Journal of Cellular Physiology, Volume 241, Issue 1, January 2026.
Abstract Preservation of the insulin‐sensitive glomerular podocyte is imperative for normal kidney function. The protein tyrosine phosphatases (PTPs), protein tyrosine phosphatase 1B (PTP1B), T‐cell protein tyrosine phosphatase (TCPTP), and Src homology phosphatase 2 (SHP2) are established regulators of insulin signaling in vivo and implicated in renal
Grace LeBleu, Ming‐Fo Hsu, Yoshihiro Ito, Suh‐Yuen Liang, Kwan‐Liu Ma, Tzu‐Ching Meng, Fawaz G. Haj   +6 more
wiley   +1 more source

Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy

Clinical Diabetes and Endocrinology, 2020
Background Classical heterozygous pathogenic variants of the lamin A/C (LMNA) gene cause autosomal dominant familial partial lipodystrophy type 2 (FPLD2).
Utku Erdem Soyaltin, Ilgin Yildirim Simsir, Baris Akinci, Canan Altay, Suleyman Cem Adiyaman, Kristen Lee, Huseyin Onay, Elif Arioglu Oral   +7 more
doaj   +1 more source

LMNA Gene [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Oral Delivery of R‐spondin1‐Loaded Small Extracellular Vesicles Activates WNT Signalling Pathway to Accelerate Intestinal Injury Repair and Reverse Ageing

Journal of Extracellular Vesicles, Volume 15, Issue 1, January 2026.
Yang et al. demonstrated that HSPG mediate the loading of active R‐spondin1 protein onto the surface of small extracellular vesicles (evRSPO1). evRSPO1 induced WNT/β‐catenin activity in intestinal organoids and tissues, thereby regulating intestinal stem cells proliferation.
Lingyan Yang, Xu Wang, Xiyang Wei, Pei Yu, Yue Liu, Shixiang Wang, Yuefang Lin, Yue Yang, Ting Jiang, Zhiping Qiao, Jiaxiang Zhang, Shicheng Yu, Ye‐Guang Chen, Yun‐Shen Chan   +13 more
wiley   +1 more source

Cytokines in Emery-Dreifuss muscular dystrophy: Possible pathogenetic markers and targets for treatment of disease [PDF]

, 2015
La distrofia muscolare di Emery-Dreifuss (EDMD) è una miopatia degenerativa ereditaria caratterizzata da debolezza e atrofia dei muscoli senza coinvolgimento del sistema nervoso.
Prencipe, Sabino <1985>
core   +1 more source