Results 121 to 130 of about 2,414,789 (346)

A RARE CASE OF MIXED NONTUBERCULOID MYCOBACTERIUM LUNG DISEASE DUE TO MYCOBACTERIUM AVIUM INTRACELLULARE AND MYCOBACTERIUM KANSASII [PDF]

, 2023
DANIEL A ACOSTA, CYNTHIA ESPINOSA, L.I. Mendez Morente, ADOLFO ALVAREZ, Nicholas Camps, JASON KOVACEVIC   +5 more
openalex   +1 more source

Recurrent cancer‐associated ERBB4 mutations are transforming and confer resistance to targeted therapies

Molecular Oncology, EarlyView.
We show that the majority of the 18 analyzed recurrent cancer‐associated ERBB4 mutations are transforming. The most potent mutations are activating, co‐operate with other ERBB receptors, and are sensitive to pan‐ERBB inhibitors. Activating ERBB4 mutations also promote therapy resistance in EGFR‐mutant lung cancer.
Veera K. Ojala, Sini Ahonen, Sara Peltola, Aura Tuohisto‐Kokko, Olaya Esparta, Peppi Suominen, Anne Jokilammi, Iman Farahani, Deepankar Chakroborty, Nikol Dibus, Steffen Boettcher, Tomi T. Airenne, Mark S. Johnson, Lisa D. Eli, Klaus Elenius, Kari J. Kurppa   +15 more
wiley   +1 more source

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in the SUMF1 gene, encoding a
Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C. Ahrens-Nicklas, Cathleen Lutz   +10 more
doaj   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

Navigating new norms: a systematic review of factors for the development of effective digital tools in higher education

FEBS Open Bio, EarlyView.
What factors make for an effective digital learning tool in Higher Education? This systematic review identifies elements of a digital tool that published examples reveal to be features of an engaging and impactful digital tool. A systematic literature search yielded 25 research papers for analysis.
Akmal Arzeman, Jessica Haines, Connie Pritchard, Stephen Rutherford, Nigel Francis   +4 more
wiley   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Immunological Targets in Generalized Myasthenia Gravis Treatment: Where Are We Going Now?

Brain Sciences
Background: Generalized myasthenia gravis (gMG) is a heterogeneous autoimmune disorder marked by antibody-mediated disruption of neuromuscular transmission.
Elena Rossini, Luca Leonardi, Stefania Morino, Giovanni Antonini, Laura Fionda   +4 more
doaj   +1 more source

Lymphangioleiomyomatosis: diagnosis of a rare cystic lung disease in a clinical case

, 2023
M. A. Makarova, А. V. Chernyak
openalex   +2 more sources

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Oral Corticosteroid and Nonsteroidal Immunosuppressant Therapy Use in Patients with Myasthenia Gravis Receiving Ravulizumab, Eculizumab, or Efgartigimod in the USA

Neurology and Therapy
Introduction Oral corticosteroids (OCSs) and nonsteroidal immunosuppressant therapies (NSISTs) remain widely used for the clinical management of patients with generalized myasthenia gravis (gMG), despite well-documented risks.
Francesco Saccà, Justin Lee, Karen S. Yee, Nicholas J. Silvestri, Guido Sabatella   +4 more
doaj   +1 more source