Results 201 to 210 of about 113,391 (263)

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Phenotype‐specific immune profiles and outcomes in childhood autoimmune neutropenia: A 20‐year cohort study

British Journal of Haematology, EarlyView.
Summary Childhood autoimmune neutropenia (AIN) encompasses heterogeneous entities; phenotype‐specific immunological profiles and their relationship to infection outcomes remain incompletely defined. To characterise clinical, immunological and long‐term outcomes across distinct phenotypes of childhood AIN.
Ioanna Saougou, Chrysoula Kosmeri, Nikolaos Chaliasos, Irene Mavroudi, Charalampos Pontikoglou, Alexandros Makis   +5 more
wiley   +1 more source

An intracellular recombinant single‐chain variable antibody fragment as a new class of phosphodiesterase type 5 inhibitors

British Journal of Pharmacology, EarlyView.
Background and Purpose Cyclic guanosine monophosphate (cGMP) is a ubiquitous second messenger involved in human (patho‐)physiology. Phosphodiesterase 5 (PDE5) is a major cGMP hydrolyzing enzyme in many cell types including vascular smooth muscle cells (VSMCs). Several highly selective PDE5 inhibitors are in clinical use. However, there are currently no
Kürsat Kirkgöz, Sophie Sprenger, Olga Schweigert, Sanika Mohagaonkar, Matti Walsdorff, Tanja Zeller, Filip Berisha, Viacheslav O. Nikolaev, Sergei D. Rybalkin   +8 more
wiley   +1 more source

Epithelial YPEL3 Modulates CD8+ T‐Cell Infiltration and Tumor Progression Through CREB1–CXCL16 Signaling in HNSCC

Cancer Science, EarlyView.
YPEL3 functions as a tumor suppressor in HNSCC by inhibiting tumor progression and promoting apoptosis. Mechanistically, it enhances epithelial–immune crosstalk through the CREB1‐mediated CXCL16–CXCR6 axis, facilitating CD8+ T‐cell infiltration and highlighting its potential as a prognostic biomarker and immunotherapy target.
Yalun Li, Yumei Li, Caiyu Sun, Congxian Lu, Gang Chen, Tianshu Zhou, Bei Zhang, Xicheng Song   +7 more
wiley   +1 more source

Triple‐Mutated HSV‐1 Expressing Soluble B7‐1 Plus CTLA‐4 Blockade Suppresses Lymph Node Metastasis in Tongue Cancer

Cancer Science, EarlyView.
In murine tongue cancer models, T‐mB7‐1, a triple‐mutated oncolytic herpes simplex virus type 1 (HSV‐1) engineered to express soluble B7‐1, suppresses cervical lymph node metastasis and improves survival, addressing a major prognostic determinant in oral squamous cell carcinoma (OSCC).
Akinari Sugauchi, Toshihiro Uchihashi, Hirotaka Ito, Miwako Iwai, Yuzuri Tsurumaki Sato, Kyoko Kurioka, Sena Zeynep Usta, Minoru Tanaka, Mikihiko Kogo, Susumu Tanaka, Hiroshi Fukuhara, Tomoki Todo   +11 more
wiley   +1 more source

Patient‐Derived IgG Epitope Mapping of Bet v 1 Reveals Hypoallergenic Peptide Candidates for Safe and Next‐Generation Allergen Immunotherapy

Clinical &Experimental Allergy, EarlyView.
Mapping IgG epitopes of the major birch allergen Bet v 1 identified patient‐derived, hypoallergenic peptides that did not trigger degranulation. These findings support a novel, safer approach for peptide‐based allergen immunotherapy that leverages naturally induced IgG specificities from allergic individuals. ABSTRACT Background Allergen immunotherapy (
Lara Šošić, Marta Paolucci, Alessandro Streuli, David A. Melillo, Tianchi Jiang, Raffaela Campana, Claudia C. V. Lang, Thomas M. Kündig, Christian Steuer, Klaus Eyer, Pål Johansen   +10 more
wiley   +1 more source

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome

Clinical Genetics, EarlyView.
We propose a phenotype‐based diagnostic framework for short telomere syndrome that integrates age‐adjusted telomere length, phenotypic manifestations, and genetic findings, where available. The framework is intended to guide clinical evaluation, longitudinal surveillance, and individualized management while acknowledging limitations in current telomere
Andrew Courtwright, Richard A. King, Jennie Vagher, Cate T. Levy, Juan Gallegos F. Orozco, Luis FZ Batista, Afaf Osman, Srinivas Tantavahi, Mary Beth Scholand   +8 more
wiley   +1 more source

Hypoxia Exacerbates Periapical Periodontitis‐Associated Pathological Bone Loss via the Hypoxia‐Inducible Factor‐2α‐Calmodulin‐Dependent Protein Kinase IV Axis

Cell Proliferation, EarlyView.
Hypoxia exposure activates HIF‐2α, which binds to the Camk4 promoter to enhance RANKL‐mediated osteoclast differentiation, leading to aggravated alveolar bone resorption in periapical periodontitis. ABSTRACT Periapical periodontitis is one of the most common inflammatory bone destructive diseases. Epidemiological evidence suggests that hypoxia exposure,
Kang Gao, Yifan Xu, Haoran Du, Zixiao Li, Xiaochen Fang, Minghui Wang, Jia Liu, Xu Zha, Xianglong Han, Weihua Guo, Xicheng Liu, Jian Zhou   +11 more
wiley   +1 more source

Eccrine Squamous Syringometaplasia Mimicking Acute Cutaneous GVHD in a Pediatric HSCT Recipient: Case Report and Brief Review of the Indexed Literature

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Eccrine squamous syringometaplasia (ESS) is an uncommon reactive alteration of eccrine ducts, most often reported in oncologic and transplant settings, where it may clinically mimic acute cutaneous graft‐versus‐host disease (GVHD). We describe a 3‐year‐old boy with chronic granulomatous disease who developed a diffuse erythematous eruption 6 ...
Benedetta Galli, Cecilia Catapano, Iacopo Ghini, Mariateresa Rossi, Marina Venturini, Valeria Boccaletti   +5 more
wiley   +1 more source