Results 71 to 80 of about 9,938 (215)

Role of desmoplakin mutations in the pathogenesis of non-compaction [PDF]

Europace, 2014
With interest we read the article by Lopez-Ayala et al .1 about 3 families (49 probands) in which 3 unrelated heterozygote probands and 15 asymptomatic relatives carried a novel desmoplakin mutation. In six of the mutation carriers, left ventricular hypertrabeculation/non-compaction (LVHT) was diagnosed.1 We have the following comments and concerns ...
Josef, Finsterer, Claudia, Stöllberger
openaire   +2 more sources

Carvajal syndrome: a brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene

Российский кардиологический журнал, 2018
Mutations in the genes encoding desmosomal proteins cause a wide range of diseases associated with abnormalities of the skin, hair and heart. In 45-50% these mutations determine the development of arrhythmogenic right ventricular cardiomyopathy.
T. G. Vaikhanskaya, L. N. Sivitskaya, T. V. Kurushko, D. P. Ermakovich, E. V. Zasim, N. G. Danilenko   +5 more
doaj   +1 more source

CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation. [PDF]

PLoS ONE, 2015
Deleterious mutations of the Centrosome/Spindle Pole associated Protein 1 gene, CSPP1, are causative for Joubert-syndrome and Joubert-related developmental disorders.
Johan Sternemalm, Stefan Geimer, Kari-Anne M Frikstad, Kay O Schink, Trond Stokke, Sebastian Patzke   +5 more
doaj   +1 more source

Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy. [PDF]

, 2019
Phospholamban (PLN) p.Arg14del cardiomyopathy is characterized by a distinct arrhythmogenic biventricular phenotype that can be predominantly left ventricular, right ventricular, or both.
Asimaki, A, de Boer, RA, Hoorntje, ET, Jongbloed, JDH, Lazzarini, E, Saffitz, JE, Suurmeijer, AJH, Te Rijdt, WP, van den Berg, MP, van der Zwaag, PA, van Tintelen, JP   +10 more
core   +3 more sources

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

PLK4 is a potential therapeutic target in nonmelanoma skin cancers: Evidence from molecular and in vivo studies

Photochemistry and Photobiology, Volume 102, Issue 3, Page 560-576, May/June 2026.
Exposure to solar ultraviolet radiation is the main etiologic driver of nonmelanoma skin cancers (NMSCs), including basal cell (BCC) and cutaneous squamous cell carcinomas (cSCC), which are the most prevalent types of cancers in the US. In this study, we demonstrate that the serine/threonine kinase Polo‐like kinase 4 (PLK4) is overexpressed in NMSCs ...
Mary A. Ndiaye, Debra R. Garvey, Gagan Chhabra, Chandra K. Singh, Minakshi Nihal, Nihal Ahmad   +5 more
wiley   +1 more source

A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity. [PDF]

, 2015
Keratin intermediate filaments (KIFs) protect the epidermis against mechanical force, support strong adhesion, help barrier formation, and regulate growth.
Adams, Alam, Alvarado, Arin, Baris, Bianchi, Bligh, Bunick, Bär, Böttinger, Candi, Candi, Capetanaki, Chan, Chernoivanenko, Christina B. Brazel, Chung, Coulombe, Coulombe, Crowe, Dennis R. Roop, Duan, Egberts, Ellis, Epand, Fessing, Fontanesi, Fuchs, Fuchs, Gendronneau, Geng, Habtezion, Haines, Hamanaka, Hans Binder, Hardman, Helenius, Henry Löffler-Wirth, Herrmann, Hesse, Hoefs, Homberg, Homberg, Hornig-Do, Hoste, Hue-Tran Hornig-Do, Huebner, Jamal-Eddine Bouameur, Janina Bär, Jaquemar, Jarnik, Jayaprakash, Kalinin, Kato, Kawasaki, Kerns, Kim, Kim, Kloepper, Koch, Kröger, Kröger, Kuramoto, Kypriotou, Laatsch, Lane, Langbein, Lessard, Lim, Loschke, Macdiarmid, Magin, Matsui, Matsuki, McAleer, Mor-Vaknin, Nakamichi, Nestle, Nicole Schwarz, Nishizawa, Norlén, Oji, Owens, Palmer, Panjwani, Paradies, Peter Seibel, Preethi Vijayaraj, Quigley, Reichelt, Reichelt, Reichelt, Rice, Rice, Rice, Robert H. Rice, Roop, Rorke, Roth, Roth, Rowland, Rudolf E. Leube, Rudolf J. Wiesner, Sabharwal, Sakaguchi, Samuelov, Samuelov, Sandilands, Sandra Heller, Schmuth, Schweizer, Schäfer, Schäfer, Segre, Segre, Seltmann, Seltmann, Seltmann, Sevilla, Signorelli, Simpson, Singla, Smith, Susanne Brodesser, Szeverenyi, Sören Thiering, Takahashi, Tamai, Tao, Tasseva, Tatsuta, Thomas M. Magin, Vijayaraj, Vijayaraj, Vinod Kumar, Wallace, Watt, Yao, Yu, Zeeuwen, Özbalci   +140 more
core   +1 more source

Autoantibodies in Patients With Arrhythmogenic Cardiomyopathy Activate GSK‐3β, Resulting in a Loss of Cardiomyocyte Cohesion

Acta Physiologica, Volume 242, Issue 7, July 2026.
ABSTRACT Background Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac desmosome disease, as more than 50% of affected patients carry pathogenic variants in desmosome protein‐coding genes. In this study, we focused on the role and mechanisms of pathogenic and non‐pathogenic autoantibodies against intercalated disc (ICD) proteins such as ...
Soumyata Pathak, Konstanze Stangner, Ellen Kempf, Sina Moztarzadeh, Matthias Hiermaier, Stephanie Wider, Marlene Rauschmayer, Tatjana Williams, Andreas Stengl, Brenda Gerull, Ruth Biller, Sebastian Clauss, Stefan Kääb, Tomo Šarić, Sunil Yeruva, Jens Waschke   +15 more
wiley   +1 more source

Human melanomas and ovarian cancers overexpressing mechanical barrier molecule genes lack immune signatures and have increased patient mortality risk. [PDF]

, 2016
We have identified eight genes whose expression in human melanoma metastases and ovarian cancers is associated with a lack of Th1 immune signatures. They encode molecules with mechanical barrier function in the skin and other normal tissues and include ...
Bedognetti, D, Coukos, G, Deacon, Dh, Gajewski, Tf, Jr,, Marincola, Fm, Mauldin, Is, Obeid, Jm, Pinczewski, J, Salerno, Ep, Shea, Sm, Slingluff, Cl, Wang, E   +12 more
core   +2 more sources

ECMO Support in Paraneoplastic Pemphigus With Respiratory Failure: A Case Report With Immune Cell Monitoring

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Paraneoplastic pemphigus (PNP) is a life‐threatening autoimmune blistering disease with a mortality rate of 70%–90%, driven largely by respiratory complications such as bronchiolitis obliterans. Managing respiratory failure in these patients remains exceptionally difficult.
Lu Li, Danxia Chen, Linzi Jin, Qinqin Shu, Juan He, Yan Li   +5 more
wiley   +1 more source