Results 41 to 50 of about 1,152 (175)

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Paraneoplastic Pemphigus Is a Life-Threatening Disease [PDF]

, 2019
Paraneoplastic pemphigus is a multiorganic autoimmune disease, usually triggered by neoplasias, mainly of lymphoproliferative origin such as chronic lymphocytic leukemia, multiple myeloma, non-Hodgkin’s lymphoma, Castleman disease, and thymoma.
Konichi-Dias, Richard Lucas
core   +2 more sources

Paraneoplastic pemphigus associated with post-transplant lymphoproliferative disorder after small bowel transplantation [PDF]

, 2021
Background PNP is a malignancy-associated autoimmune mucocutaneous syndrome due to autoantibodies against plakins, desmogleins, and other components of the epidermis and basement membrane of epithelial tissues.
Bolling, Marieke C., Bungener, Laura B., Diercks, Gilles F. H., Fidder, Sander A. R., Hooimeijer, Louise H. L., Pas, Hendri H., Scheenstra, Rene, Stapelbroek, Janneke M., van der Doef, Hubert P. J., Willemse, Brigitte W. M.   +9 more
core   +1 more source

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

Deciphering the full spectrum of Castleman diseases based on a cohort of 700 patients in a western country

British Journal of Haematology, EarlyView.
The spectrum of Castleman diseases has expanded over the past three decades. The phenotype of the diseases varies not only among the three major types but also according to the patient ancestry. Summary Under the Castleman disease (CD) eponym, three distinct diseases sharing common pathological features have been described over time.
Eric Oksenhendler, Marion Malphettes, Véronique Meignin, David Boutboul, Lionel Galicier   +4 more
wiley   +1 more source

Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis [PDF]

American Journal of Respiratory and Critical Care Medicine, 2016
Abstract Rationale Sequence variation, methylation differences, and transcriptional changes in desmoplakin (DSP) have been observed in patients with idiopathic pulmonary fibrosis (IPF). Objectives To identify novel ...
Susan K, Mathai, Brent S, Pedersen, Keith, Smith, Pamela, Russell, Marvin I, Schwarz, Kevin K, Brown, Mark P, Steele, James E, Loyd, James D, Crapo, Edwin K, Silverman, Deborah, Nickerson, Tasha E, Fingerlin, Ivana V, Yang, David A, Schwartz   +13 more
openaire   +2 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

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

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