Results 161 to 170 of about 55,423 (289)

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 287-294, February 2026.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Clinical characteristics of endometrial cancers with microsatellite instability-high and <i>BRCA1/2</i> mutations. [PDF]

Front Oncol
Shan Y, Wang Y, Huang L, Li G, Cui Z, Xing X, Yin G.   +6 more
europepmc   +1 more source

Indeterminate Microsatellite Instability [PDF]

, 2020
openaire   +1 more source

WHO classification of skin tumours: key updates in the fifth edition

Histopathology, Volume 88, Issue 3, Page 555-568, February 2026.
This review article summarizes the key updates in the 5th edition of the WHO Classification of Skin Tumours. It provides an overview of the major changes and new entities specific to the skin section, covering areas such as epidermal, melanocytic, mesenchymal and other tumours. The 5th edition of the World Health Organization Classification of Tumours (
Gabrielle Goldman‐Lévy, Raymond Barnhill, Boris C. Bastian, Werner Kempf, David Elder, Pedram Gerami, Wayne Grayson, Dmitry Kazakov, Daniela Massi, Jane Messina, Arnaud de la Fouchardière, Alexander J. Lazar, Thomas Brenn, Brian Rous, Andrew Field, Anthony Gill, Jennelle C. Hodge, Joseph D Khoury, Katia Leite, Shahin Sayed, Puay Hoon Tan, Rosalie Elenitsas, Eduardo Calonje, Lyn M. Duncan, Liang Zhiyong, Holger Moch, Rajendra Singh, Harshima Wijesinghe, Ian Cree, Dilani Lokuhetty   +29 more
wiley   +1 more source

A Deep Learning-Based Approach for Explainable Microsatellite Instability Detection in Gastrointestinal Malignancies. [PDF]

J Imaging
Ciardiello L, Agnello P, Petyx M, Martinelli F, Cesarelli M, Santone A, Mercaldo F.   +6 more
europepmc   +1 more source

Molecular profile of atypical Leydig cell tumours

Histopathology, Volume 88, Issue 3, Page 628-635, February 2026.
Copy number variations by themselves are not sufficient to discriminate between benign and potential malignant Leydig cell tumours (LCTs). Genomic instability was only detected in malignant and atypical cases, and not in any benign tumours. Currently, the presence of metastasis remains the only malignant criterion for LCTs.
Muhammad F.K. Choudhry, Diogo Caires, Yaser Gamallat, Asli Yilmaz, Fadi Brimo, Bob Argiropoulos, Tarek A. Bismar   +6 more
wiley   +1 more source

Microsatellite Instability Analysis [PDF]

, 2020
openaire   +1 more source

Clinical significance and immune microenvironment association of cuproptosis‐related genes in pan‐cancer

Experimental Physiology, Volume 111, Issue 2, Page 539-555, 1 February 2026.
Abstract Recent studies highlight the important roles of cuproptosis in cancer cells. However, the roles of the cuproptosis‐related genes (CRGs) in different cancers are still not fully understood. Comprehensive analysis was performed using open‐source bioinformatic platforms to disclose the expression profiles, prognostic significance, genomic and ...
Xinyu Ge, Kaijing Wang, Tian Zhao, Jinyi Wang, Jie Liu, Zhengliang Sun, Zhengjun Chai, Wen Zhang, Chengbao Li, Yan Xu, Guohan Chen   +10 more
wiley   +1 more source

Identifying actionable genetic mutations and microsatellite instability in liquid biopsy of colorectal cancer. [PDF]

J Genet Eng Biotechnol
Kassem NM, Seadawy MG, Gaafar M, Kassem HA, Ahmed Hussein AF, Ali Rizk EM, Hassan MA, AbdelAziz RH, Abdelradi MM, El-Hosseny MF, Abdulla M, Moneim RA.   +11 more
europepmc   +1 more source

Detection of K-ras mutations and BAT26 microsatellite instability in Fecal DNA from patients with colorectal cancer [PDF]

, 2003
Helga‐Paula Török, J Glas, R. Zahn, Ekkerhard D. Albert, Markus Dollhopf, Berhard Hoppe, Thomas Mussack, Christian Folwaczny   +7 more
openalex   +1 more source