Results 131 to 140 of about 76,927 (296)

Primary Pulmonary Epithelioid Inflammatory Myofibroblastic Sarcoma With SQSTM1::ALK Fusion

Diagnostic Cytopathology, EarlyView.
ABSTRACT Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a rare and aggressive variant of inflammatory myofibroblastic tumor (IMT) characterized by epithelioid morphology, atypical features, ALK rearrangements, and early metastatic potential.
Havva Gokce Terzioglu, Phillip McMullen, Güliz A. Barkan   +2 more
wiley   +1 more source

Primary Pulmonary Mesenchymal Neoplasm With EWSR1::CREM Fusion: Cytologic Findings and Molecular Diagnosis

Diagnostic Cytopathology, EarlyView.
ABSTRACT Background Primary pulmonary mesenchymal neoplasms with EWSR1::CREM fusion are rare. These lesions are challenging to diagnose by morphology and immunohistochemistry alone. Case A 66‐year‐old woman (ex‐smoker) was found to have a 1.3‐cm right lower lobe lung nodule that had grown very slowly over a 9‐year period.
Priya Upadhyay, Sanjay Mukhopadhyay, Swikrity U. Baskota   +2 more
wiley   +1 more source

Cytogenomic characterization of karyotypes with additional autosomal material

Scientific Reports
Chromosomal rearrangements involving additional material in individuals with phenotypic alterations usually result in partial trisomy, often accompanied by partial monosomy.
Priscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, Débora Cristina Batista Rosolen, Chong Ae Kim, Maria Isabel Melaragno   +5 more
doaj   +1 more source

Cytological Features of Clear Cell Sarcoma in Exfoliative and Effusion Cytology Specimen—A Case Report and Literature Review

Diagnostic Cytopathology, EarlyView.
ABSTRACT Clear cell sarcoma of soft tissue (CCSST) with malignant effusion is a rare yet clinically aggressive appearance, which may pose a diagnostic pitfall with its overlapping cytomorphologic features with metastatic melanoma and carcinoma.
William H. Wu, Joanna K. M. Ng, Joshua J. X. Li   +2 more
wiley   +1 more source

Oogenesis and germinal bed morphology of the brown anole (A. sagrei)

Developmental Dynamics, EarlyView.
Abstract Background The brown anole is a model species of the genus Anolis, a squamate (encompassing lizards and snakes) group widely studied in evolutionary, behavioral, and developmental biology. Full genome annotation, the establishment of gene editing techniques, and comprehensive description of reproductive tract morphology and embryogenesis in ...
Bonnie K. Kircher, Antonia Weberling, Erin J. Vance, Natalia A. Shylo, Katherine Starr, Zoe B. Griffin, Hannah Wilson, Melainia McClain, Florian Hollfelder, Suzannah A. Williams, Thomas J. Sanger, Richard R. Behringer, Paul A. Trainor   +12 more
wiley   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Crosstalk Between Parkinson's Disease and Colorectal Cancer: Genetic Mechanisms, Gut Microbiota, and Therapeutic Insights

Health Care Science, EarlyView.
This review elucidates the crosstalk between Parkinson's disease and colorectal cancer, driven by shared genetics (PRKN, PINK1, DJ‐1) involving oxidative stress, cell cycle regulation, and inflammation. It identifies the gut microbiota—via functional amyloids and short‐chain fatty acids (SCFAs)—as a mechanistic bridge, offering insights for dual ...
Jiacheng Ying, Zhengyuan Fang, Cheng Zhang, Xu Liu, Jianzhi Cui, Zezhi Li, Jiayin Tang   +6 more
wiley   +1 more source

The Two Faces of Saccharomyces cerevisiae RAD9 Function in Homologous Recombination: Suppressor and Promoter of Genome Instability

DNA
Recombinogenic DNA damage can initiate chromosomal rearrangements that can alter gene expression or accelerate cancer progression in higher eukaryotes.
Michael Fasullo
doaj   +1 more source

Sizing and concentration analysis of cfDNA using Biabooster technology: Results from a prospective plasma‐based collection of 77 patients with locally advanced unresectable esophageal cancer

International Journal of Cancer, EarlyView.
What's New? This study introduces a novel approach for detecting locally advanced esophageal carcinoma using cell‐free DNA (cfDNA) analysis through a highly sensitive fragmentome assay. Unlike traditional sequencing‐based methods that are limited by the absence of specific mutations in esophageal tumors, our method offers an alternative by quantifying ...
Anouchka Modesto, Sophie Gibert, Caroline Delmas, David Tougeron, Amaury Paumier, Alexandre Taillez, Samuel Le Sourd, Delphine Argo Leignel, Philippe Ronchin, Ariane Darut Jouve, Véronique Vendrely, Olivier Riou, Jérôme Martin‐Babau, Thomas Leroy, Laurent Quéro, Naïma Hanoun, Pierre Cordelier, Veronica Pezzella, Jean Pierre Delord, Rosine Guimbaud, Elizabeth Moyal, Catherine Seva   +21 more
wiley   +1 more source