Results 91 to 100 of about 4,048 (215)

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

AKT, ATR, and Notch Inhibitors Radiosensitize a Preclinical Model of Adenoid Cystic Carcinoma

Head &Neck, EarlyView.
ABSTRACT Background Adenoid Cystic Carcinoma (ACC) is a rare and lethal type of head and neck cancer. Standard therapy involves surgery followed by radiation therapy. The majority of ACC has MYB overexpression and MYB‐NFIB gene fusions, while Notch mutations are associated with aggressive behavior.
Shivani Thoidingjam, Sushmitha Sriramulu, Asya Haider Muratoglu, Stephen Brown, Oudai Hassan, Benjamin Movsas, Haythem Ali, Steven Chang, Patrick Ha, Farzan Siddiqui, Shyam Nyati   +10 more
wiley   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Globo‐H diagnostic stratification and identification of DUSP14 as a candidate target in colorectal cancer

International Journal of Cancer, EarlyView.
What's New? Colorectal cancer (CRC) is increasingly complicated by drug‐resistant tumors that limit the effectiveness of anticancer therapies. Because resistance mechanisms vary among patients and can evolve over time, personalized treatment strategies are needed.
Keren Zohar, Marco Strecker, Thomas Wartmann, Wenjie Shi, Frederike Stelter, Maximilian Doelling, Mihailo Andric, Or Kakhlon, Christian Täger, Denny Schanze, Michael Linnebacher, Michael Naumann, Daniel E. Stange, Dörthe Jechorek, Roland S. Croner, Michal Linial, Ulf D. Kahlert   +16 more
wiley   +1 more source

MUC1 as a Survival Effector of Radiotherapy‐Induced Epithelial Hybrid States in Basal‐Like Breast Cancer

International Journal of Cancer, EarlyView.
Basal‐like breast cancer (BLBC) is aggressive and often exhibits inherent or acquired resistance to radiotherapy (RT), a primary treatment option. RT resistance is underpinned by molecular alterations, many of which are poorly understood. Here, RT‐induced transcriptomic changes were analyzed using bulk and spatial sequencing in a BLBC mouse model and ...
Garyfallia Pantelaiou‐Prokaki, Husam Bamahmoud, Nadine S. Georges, Shaishavi Jansari, Annika Jung, Daniela Grimm, Evangelos Prokakis, Fabian Alexander Gayer, Maryam Deldar, Christian Dullin, Julia Gallwas, Florian Wegwitz, Frauke Alves   +12 more
wiley   +1 more source

Blood‐Based Circulating Tumor DNA Assays for Early Colorectal Cancer Detection: A Systematic Review of Performance in Asymptomatic Screening Populations

International Journal of Cancer, EarlyView.
Early detection of colorectal cancer via population‐based screening programs can reduce incidence and mortality, but current screening approaches are limited. This systematic review evaluated the screening potential of blood‐based circulating tumor DNA assays in asymptomatic screening populations.
Caroline Ledertoug Kahn, Maria Wissing Rasmussen, Jakob Kleif, Inge Søkilde Pedersen, Christina Therkildsen   +4 more
wiley   +1 more source

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia

International Journal of Cancer, EarlyView.
Acute myeloid leukemia adult cases often appear cytogenetically normal when analyzed with conventional karyotyping. However, acquired structural variants may escape routine detection. Here, optical genome mapping detected diverse genomic alterations in nearly half of the analyzed cytogenetically normal cases.
Tuuni Turtinen, Andriana Valkama, Christopher Wray, Sandra Vorimo, Hannele Räsänen, Eeva‐Riitta Savolainen, Katri Pylkäs, Tuomo Mantere   +7 more
wiley   +1 more source

In Silico Fragment Size Selection for Enhanced Fetal Fraction and Abnormality Origin Discernment Using Pair‐End Sequencing of Maternal Plasma DNA

Journal of Clinical Laboratory Analysis, EarlyView.
This study presents a new bioinformatics pipeline for noninvasive prenatal testing (NIPT) that filters DNA fragments to significantly improve the fetal DNA fraction. This enhanced method successfully analyzed samples previously rejected for low fetal fraction and could distinguish between fetal and maternal chromosomal abnormalities.
Lihui Yang, Jiutong Zhang, Ji Zhang, Qiujie Jin, Yating Wang, Qiuhua Wu, Fengrui Shi, Rui Wang, Yunping Liu, Na Cai, Xiaobin Wang, Rong Qiang   +11 more
wiley   +1 more source