Results 81 to 90 of about 10,499 (199)

Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin ( DSP ) truncating variant [PDF]

, 2021
Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q.C.M. Barge‐Schaapveld, Maarten P. van den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D.H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H.M. van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe M. Reuter, Christopher Semsarian, Jasper J. van der Smagt, Tina Thompson, Jitendra K. Vohra, Paul G.A. Volders, Jaap I. van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S. Amin, Arthur A.M. Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter van Tintelen, Jodie Ingles   +48 more
openalex   +1 more source

Prediction and prognostic role of left ventricular systolic dysfunction in family screening for dilated cardiomyopathy and non‐dilated left ventricular cardiomyopathy

European Journal of Heart Failure, Volume 27, Issue 12, Page 3260-3268, December 2025.
Aims The prognostic significance of detecting left ventricular (LV) systolic dysfunction during family screening programmes (FSPs) in relatives of probands affected by dilated (DCM) and non‐dilated left ventricular (NDLVC) cardiomyopathies remain unclear.
Eva Del Mestre, Alessia Paldino, Carola Pio Loco Detto Gava, Ilaria Gandin, Marta Gigli, Davide Stolfo, Martina Setti, Giovanni Maria Severini, Beatrice Spedicati, Stefania Lenarduzzi, Giorgia Girotto, Alessandro Folgheraiter, Jacopo Giulio Rizzi, Renata Korcova, Luisa Mestroni, Marco Merlo, Matteo Dal Ferro, Gianfranco Sinagra   +17 more
wiley   +1 more source

Role of desmoplakin in supporting neuronal activity, neurogenic processes, and emotional-related behaviors in the dentate gyrus

Frontiers in Neuroscience
Desmoplakin (Dsp) is a component of desmosomal cell–cell junctions that interacts with the cadherin complex and cytoskeletal intermediate filaments. In addition to its function as an adhesion component, Dsp is involved in various biological processes ...
Keisuke Otsubo, Naoko Sakashita, Yuki Nishimoto, Yo Sato, Takehisa Tsutsui, Katsunori Kobayashi, Kanzo Suzuki, Eri Segi-Nishida   +7 more
doaj   +1 more source

Efficient Immortalization of luminal Epithelial Cells from Human Mammary gland by introduction of Simian virus 40 large Tumor antigen with a Recombinant Retrovirus [PDF]

, 1991
When defined in terms of markers for normal cell lineages, most invasive breast cancer cells correspond to the phenotype of the common luminal epithelial cell found in the terminal ductal lobular units.
J, Bartek, J, Bartkova, J, Taylor Papadimitriou, Lalani, El-Nasir, M, Shearer, N, Kyprianou, S, Chang, Z, Staskova   +7 more
core   +2 more sources

PRMT1 in Health and Disease: Emerging Perspectives From Molecular Mechanisms to Therapeutic Strategies

MedComm, Volume 6, Issue 12, December 2025.
Protein arginine methyltransferase 1 (PRMT1) is a pivotal enzyme that catalyzes the asymmetric dimethylation of arginine residues, thereby functioning as a critical epigenetic regulator of diverse biological processes such as gene expression, RNA splicing, and DNA repair.
Yanqun Luo, Ying Gao, Xiaoliang Deng, Lei Wang, Tao Wu   +4 more
wiley   +1 more source

Naxos Disease and Related Cardio-Cutaneous Syndromes

JACC: Advances
Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin.
Alexandros Protonotarios, MD, Angeliki Asimaki, Ph.D, Cristina Basso, MD, Zafeirenia Xylouri, MD, Emanuele Monda, MD, Ioannis Protonotarios, MD, Giulia Crisci, MD, Dominic JR. Abrahms, MMBS, MD, MBA, Aris Anastasakis, MD, Loizos Antoniades, MD, Athanasios Bakalakos, MD, Andreina Carbone, MD, Aman S. Coonar, MD, Juan Ramon Gimeno, MD, George Lazaros, MD, Stamatis Lerakis, MD, Luisa Mestroni, MD, George Papadopoulos, MD, Leandro Pecchia, MD, Francesca Romana Prandi, MD, Petros Syrris, MD, Julia Cadrin-Turigny, MD, Anargyros Vasilakis, MSc, Jeffrey E. Saffitz, MD, PhD, Stamatios Gaetano Thiene, MD, Perry M. Elliott, MD, Juan Pablo Kaski, MD, William J. McKenna, MD, Eduardo Bossone, MD, Giuseppe Limongelli, MD, Adalena Tsatsopoulou, MD   +30 more
doaj   +1 more source

Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy–Associated Cardiomyopathy

Acta Physiologica, Volume 241, Issue 12, December 2025.
ABSTRACT Aim Duchenne muscular dystrophy (DMD), a rare X‐linked genetic disorder, is affecting skeletal and cardiac muscles due to the loss of the dystrophin protein. Modifier proteins, whose expression is altered in DMD patients, may influence disease progression.
Brice‐Emmanuel Guennec, Yeranuhi Hovhannisyan, Gaëlle Revet, Sila Polat, Medhi Hassani, Nathalie Mougenot, Inès Barthelemy, Stephane Blot, Caroline Cieniewski‐Bernard, Arnaud Ferry, Ekaterini Kordeli, Zhenlin Li, Onnik Agbulut   +12 more
wiley   +1 more source

Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis

Nature Communications, 2021
Eosinophilic esophagitis (EoE) is a chronic allergic inflammatory disease with a complex underlying genetic etiology. Here, the authors identify a series of rare variants in DSP and PPL in multiplex families with EoE and uncover a pathogenic role for ...
Tetsuo Shoda, Kenneth M. Kaufman, Ting Wen, Julie M. Caldwell, Garrett A. Osswald, Pathre Purnima, Nives Zimmermann, Margaret H. Collins, Kira Rehn, Heather Foote, Michael D. Eby, Wenying Zhang, Netali Ben-Baruch Morgenstern, Adina Y. Ballaban, Jeff E. Habel, Leah C. Kottyan, J. Pablo Abonia, Vincent A. Mukkada, Philip E. Putnam, Lisa J. Martin, Marc E. Rothenberg   +20 more
doaj   +1 more source

Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening [PDF]

, 2017
INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology
Almutawa, Armstrong, Dua-Awereh, Harmon, Has, Hershkovitz, Hunt, Irvine, Itin, Keren, Klijuic, McAleer, Milingou, Nomura, Samuelov, Wan, Whittock   +16 more
core   +2 more sources

Mimicking Darier Disease In Vitro: A Human Epidermal Organoid Approach

Experimental Dermatology, Volume 34, Issue 12, December 2025.
ABSTRACT Darier disease (DD) is a rare genetic disorder caused by mutations in the ATP2A2 gene, resulting in calcium dysregulation and impaired keratinocyte adhesion. Due to the paucity of suitable models, understanding the molecular mechanisms of DD has been challenging.
Rishika Agarwal, Erika Parente, Simon M. Müller, Elisabeth A. Kappos, Tanja Dittmar, Michael Kunz, Roni P. Dodiuk‐Gad, Nisim Asayag, Johann E. Gudjonsson, Beda Mühleisen, Emmanuel Contassot, Alexander A. Navarini   +11 more
wiley   +1 more source