Results 31 to 40 of about 35,458 (213)

Pregnancy in Desmin-Related Cardiomyopathy [PDF]

American Journal of Perinatology Reports, 2015
The course of desmin-related restrictive cardiomyopathy (DRCM) during pregnancy has not been described previously because of the rarity of the condition. Following an episode of heart failure antecedent to conception, a 28-year-old primigravida with DRCM presented to establish prenatal care during the first trimester. Prenatal management consisted of β-
Arij Faksh, Elisabeth Codsi, Michel K. Barsoum, Brian C. Brost   +3 more
openaire   +3 more sources

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Desmin gene expression is not ubiquitous in all upper airway myofibers and the pattern differs between healthy and sleep apnea subjects

European Journal of Medical Research
Background Desmin is a major cytoskeletal protein considered ubiquitous in mature muscle fibers. However, we earlier reported that a subgroup of muscle fibers in the soft palate of healthy subjects and obstructive sleep apnea patients (OSA) lacked ...
Per Stål, Hanna Nord, Jonas von Hofsten, Thorbjörn Holmlund, Farhan Shah   +4 more
doaj   +1 more source

Thioflavin T in-gel staining for ex vivo analysis of cardiac amyloid

Frontiers in Molecular Biosciences
There are limited options to quantify and characterize amyloid species from biological samples in a simple manner. Thioflavin T (ThT) has been used for decades to stain amyloid fibrils, but to our knowledge, we were the first to use it in-gel. Thioflavin
Joseph Oldam, Irina Tchernyshyov, Jennifer Van Eyk, Juan Troncoso, Charles G. Glabe, Giulio Agnetti, Giulio Agnetti   +6 more
doaj   +1 more source

Dilated Cardiomyopathy and the Desmin Gene [PDF]

Circulation, 2000
To the Editor: Li et al1 report a mutation screening study of actin and desmin genes in 44 probands with familial dilated cardiomyopathy (DCM) and conclude that a mutation of the desmin gene can cause DCM. We believe that the genetic data are not yet sufficient to justify this conclusion.
Mayosi, B, Blair, E, Watkins, H
openaire   +2 more sources

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies

Cell Reports, 2015
Desminopathies belong to a family of muscle disorders called myofibrillar myopathies that are caused by Desmin mutations and lead to protein aggregates in muscle fibers.
Caroline Ramspacher, Emily Steed, Francesco Boselli, Rita Ferreira, Nathalie Faggianelli, Stéphane Roth, Coralie Spiegelhalter, Nadia Messaddeq, Le Trinh, Michael Liebling, Nikhil Chacko, Federico Tessadori, Jeroen Bakkers, Jocelyn Laporte, Karim Hnia, Julien Vermot   +15 more
doaj   +1 more source

Bioprinting High‐Cell‐Density Cardiac Tissue Constructs With Sustained Contractile Function

Advanced Healthcare Materials, EarlyView.
Contractile cardiomyocytes in 3D culture provide insights into the behavior of the heart. Combining a 3D bioprinting approach with a multi‐electrode array allows the development of the 3D culture to be monitored over time, and matured cultures allow the effect of drugs on cardiac function to be modelled, replicating effects seen in clinical application.
Priscila Melo, Wing Tai Tung, Harvey Lewis, Kavin Hettiarachchilage, Babis Tzivelekis, Rolando Berlinguer‐Palmini, Ana Marina Ferreira, Jason Gill, Kenneth Dalgarno   +8 more
wiley   +1 more source

Stromal‐Derived IL‐8 Promotes M2 Macrophage Polarization via the RhoA/MRTF‐A/SRF Transcriptional Axis to Impair CD8+ T Cell Cytotoxicity in Lung Cancer

Advanced Science, EarlyView.
In the recondite pulmonary neoplastic milieu, DESMIN+ cancer‐associated fibroblasts function as the paramount stromal source of IL‐8, precipitating a deleterious immunological metamorphosis by engaging CXCR2 receptors on the myeloid lineage. This paracrine stimulus triggers a mechanotransduction cascade characterized by RhoA‐dependent actin ...
Xuyu Gu, Qiyu Fang, Jia Yu, Ting Yu, Huashan Shi, Kaiqi Jin, Lei Jiang, Wentian Zhang   +7 more
wiley   +1 more source

Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice

Scientific Reports, 2017
In striated muscle, desmin intermediate filaments interlink the contractile myofibrillar apparatus with mitochondria, nuclei, and the sarcolemma. The desmin network’s pivotal role in myocytes is evident since mutations in the human desmin gene cause ...
Stefanie Diermeier, Julian Iberl, Kristina Vetter, Michael Haug, Charlotte Pollmann, Barbara Reischl, Andreas Buttgereit, Sebastian Schürmann, Marina Spörrer, Wolfgang H. Goldmann, Ben Fabry, Fatiha Elhamine, Robert Stehle, Gabriele Pfitzer, Lilli Winter, Christoph S. Clemen, Harald Herrmann, Rolf Schröder, Oliver Friedrich   +18 more
doaj   +1 more source