Results 111 to 120 of about 12,984 (193)

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

International Journal of Cancer, Volume 159, Issue 5, Page 1218-1227, 1 September 2026.
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

Smart Design: Integrating Artificial Intelligence and Gene Editing for Advanced mRNA Therapeutics

MedComm – Biomaterials and Applications, Volume 5, Issue 3, September 2026.
The challenges of mRNA therapy and the application of artificial intelligence and gene editing in the field of mRNA drugs. ABSTRACT Artificial intelligence (AI) and gene editing are increasingly being applied to the design and evaluation of mRNA therapeutics.
Haixing Shi, Shengbin Liu, Danni Dai, Shanhui Jiang, Tingchen Tian, Zhenyi Niu, Zhongzheng Xiang, Chaoyu Zou, Fang Liu, Xue Tang, Xin Jiang, Xiangrong Song   +11 more
wiley   +1 more source

‘I, Me, Myself’: Selfhood and Melancholy in the Journals of Gertrude Savile (1697–1758)

Journal for Eighteenth-Century Studies, Volume 49, Issue 3, Page 287-308, September 2026.
Abstract This article examines the journals of Gertrude Savile from 1727 in light of recent scholarship on early modern and eighteenth‐century melancholy. The concept had myriad associations with medicine, physiology, the imagination, and feeling, but questions remain about how melancholy during this period was considered by those outside the narrow ...
Daniel Beaumont
wiley   +1 more source

Tudor England and Stewart Scotland Through Spanish Eyes: A Complete Transcription and Translation of Pedro de Ayala's Letter of 1498 to King Ferdinand of Castile and Queen Isabella of Aragon

Renaissance Studies, Volume 40, Issue 4, Page 635-689, September 2026.
Abstract Pedro de Ayala served as a diplomat for King Ferdinand II of Aragon and Queen Isabella I of Castile at the courts of Henry VII, King of England, and James IV, King of Scots. In July 1498, he wrote a letter, partly in cipher, to report to his king and queen on such matters as Spain's interests in international diplomacy; the characters and ...
Adrian William Jaime, Valeria Tapia Cruz, Mairi Cowan   +2 more
wiley   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, Volume 20, Issue 8, Page 2054-2084, August 2026.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity. [PDF]

Acta Neurol Belg, 2020
Colak FK, Guleray N, Azapagasi E, Yazıcı MU, Aksoy E, Ceylan N.   +5 more
europepmc   +1 more source

Real‐World Validation of the Clinical Distinctiveness of IDH‐Mutant Glioblastoma in the SEER Transition Era: A Population‐Based Study Integrating Machine Learning

Brain and Behavior, Volume 16, Issue 8, August 2026.
ABSTRACT Introduction The 2021 WHO classification reclassified “IDH‐mutant glioblastoma (GBM)” as “Astrocytoma, IDH‐mutant, grade 4.” This study aims to provide real‐world validation of this reclassification using the specific ICD‐O‐3 code (9445/3) from the Surveillance, Epidemiology, and End Results (SEER) “Transition Era” (2018–2022) and develop a ...
Dewei Du, Amu Jike, Dongnan Yu, Shizheng Tan, Shuming Wang, Shun Li   +5 more
wiley   +1 more source

Clonal and genomic determinants of e1a2 BCR::ABL1 chronic myeloid leukemia: A Fi‐LMC study

HemaSphere, Volume 10, Issue 8, August 2026.
Abstract The rarer p190 (e1a2) transcript in chronic myeloid leukemia (CML) is associated with atypical presentations; yet, its biological basis remains poorly understood. Using a cohort of 60 patients including 42 chronic phase patients age‐matched 1:1 with 42 e13a2/e14a2 patients in the chronic phase, we investigated the clinical, genomic, and clonal
Benjamin Podvin, Olivier Nibourel, Sandrine Hayette, Valérie Coiteux, Rathana Kim, Lucie Rigolot, Stéphanie Dulucq, Augustin Boudry, Geoffrey Pawlak, Wayne‐Corentin Lambert, Pascale Flandrin‐Gresta, Ivan Sloma, Christophe Roumier, Marie Balsat, Sandrine Loron, Chloé Li, Sandrine Geffroy, Jean‐Michel Cayuela, Françoise Huguet, François‐Xavier Mahon, Franck E. Nicolini, Delphine Réa, Claude Preudhomme, Nicolas Duployez, Catherine Roche‐Lestienne, Fi‐LMC group   +25 more
wiley   +1 more source

Harnessing Tumor‐Specific Transcript Diversity Uncovers a Shared Neoantigen Reservoir for Pancreatic Ductal Adenocarcinoma

MedComm, Volume 7, Issue 8, August 2026.
This study introduces NeoAPP, a computational tool revealing that transcriptional dysregulation generates a dominant reservoir of neoantigens from tumor‐specific transcripts (TSTs) in pancreatic ductal adenocarcinoma (PDAC), far exceeding those of mutational origin.
Jingjing Zhao, Qiaojuan Li, Peng Lin, Yu Yang, Hongwu Yu, Yifan Wen, Wenqian Yu, Huiyi He, Sichen Tao, Feifei Zhang, Yan Li, Zhixiang Hu, Jing Xie, Zhen Chen, Shenglin Huang   +14 more
wiley   +1 more source

Caspase‐mediated cleavage events hidden by secondary proteolysis during apoptosis

Protein Science, Volume 35, Issue 8, August 2026.
Abstract Caspases are cysteine proteases that cleave specific proteins to control a range of cellular processes including cell death, inflammation, and differentiation. Proteomic approaches, like N‐terminomics, have been central to identifying both cleaved proteins and where they are cleaved.
Fatemeh Fotouhi, Erik Gomez‐Cardona, Jainilkumar Patel, Olivier Julien, Howard Fearnhead   +4 more
wiley   +1 more source