Results 151 to 160 of about 141,024 (299)

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

Mice carrying nonsense mutant p53 develop frequent multicentric or metastatic tumors

Cell Death and Disease
The TP53 tumor suppressor gene is mutated in a large fraction of human tumors. Close to 11% of TP53 mutations are nonsense mutations, causing premature termination of protein synthesis and expression of truncated inactive p53 protein.
Charlotte Strandgren, Veronica Rondahl, Ann-Sophie Oppelt, Susanne Öhlin, Angelos Heldin, Klas G. Wiman   +5 more
doaj   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Enhancement of immune checkpoint inhibitor efficacy by DHX58+ SELL+ T cells in advanced gastric cancer

VIEW, EarlyView.
We created a coculture system using patient‐derived organoids (PDOs) and tumor‐infiltrating lymphocytes (TILs) that mimics important interactions between PDOs and TILs in the presence of various ICIs. Our findings reveal that CD62L+ T cells, activated by CD44+ cancer stem cells (CSCs), facilitate tumor regression in samples sensitive to ICIs, which is ...
Jie Chen, Youdong Liu, Hongda Pan, Tianyi Cai, Mingde Zang, Xiaowen Liu, Ziwen Long, Xin Fan, Jun Lu, Fenglin Liu   +9 more
wiley   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model

Integrative Zoology, EarlyView.
UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang, Yuehua Wang, Hang Zhang, Guiping Xu, Shixia Xu, Guang Yang   +5 more
wiley   +1 more source

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, EarlyView.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source

Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead

Movement Disorders, EarlyView.
Robert Jech, Petra Havránková, Eugenia Tsoma, Lukáš Kunc, Tomáš Krajča, Ján Necpál, Olga Ulmanová, Aleksandra Tomic, Ivana Dzinovic, Irena Rektorová, Marek Baláž, Tereza Serranová, Stanislava Jaselska, Maria Giertlova, Kristina Kulcsarova, Alexandra Lackova, Denisa Harvanova, Miriam Ostrozovicova, Vladimir Han, GenDy Collaborators, Matej Škorvánek, Michael Zech   +21 more
wiley   +1 more source

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source