Results 321 to 330 of about 398,176 (385)

Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient

Clinical Genetics, EarlyView.
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya, Yarin Hadid, Ahmad Mahamid, Debora Kidron, Naama Halpern, Adel Shalata, Zohar Levi, Yael Goldberg   +7 more
wiley   +1 more source

Systematic review and meta-analysis of deep learning for MSI-H in colorectal cancer whole slide images. [PDF]

NPJ Digit Med
Li H, Qin J, Li Z, Ouyang R, Chen Z, Huang S, Qin S, Huang Q.   +7 more
europepmc   +1 more source

Genome‐Wide Screening in Haploid Stem Cells Reveals Synthetic Lethality Targeting MLH1 and TP53 Deficient Tumours

Cell Proliferation, EarlyView.
To identify genetic events that can lead to tumour death once either MLH1 or TP53 is mutated, a genome‐wide genetic screening was performed, uncovering a list of putative hits. Synthetic lethal interactions were validated either genetically or chemically by using small molecules that inhibit these genes either in vitro and in vivo.
Rivki Cashman, Guy Haim‐Abadi, Elyad Lezmi, Hagit Philip, Jonathan Nissenbaum, Ruth Viner‐Breuer, Chen Kozulin, Tamar Golan‐Lev, Aseel Gadban, Shiri Spinner‐Potesky, Ofra Yanuka, Oded Kopper, Nissim Benvenisty   +12 more
wiley   +1 more source

The role of TMEM119 in gastric adenocarcinoma and its specific effects on immunity. [PDF]

J Int Med Res
Liu Y, Yan X, Qu C, Tang F, Wang Q, Li Y.   +5 more
europepmc   +1 more source

Deciphering the Immunomodulatory Function of GSN+ Inflammatory Cancer‐Associated Fibroblasts in Renal Cell Carcinoma Immunotherapy: Insights From Pan‐Cancer Single‐Cell Landscape and Spatial Transcriptomics Analysis

Cell Proliferation, EarlyView.
Pan‐cancer scRNA‐seq and ST‐seq analyses identify GSN+ inflammatory cancer‐associated fibroblasts (CAFs) and their spatial distribution in immune checkpoint inhibitor (ICI) therapy. The Caf.Sig model accurately predicts ICI response across cancers using CAF gene signatures and machine learning.
Shan Li, Xinwei Zhou, Haoqian Feng, Kangbo Huang, Minyu Chen, Mingjie Lin, Hansen Lin, Zebing Deng, Yuhang Chen, Wuyuan Liao, Zhengkun Zhang, Jinwei Chen, Bohong Guan, Tian Su, Zihao Feng, Guannan Shu, Anze Yu, Yihui Pan, Liangmin Fu   +18 more
wiley   +1 more source

Frequency of microsatellite instability in gynecologic cancers and the efficacy of immune checkpoint inhibitors treated: real-world data from a single gynecologic center. [PDF]

Front Immunol
Kuang W, Zeng J, Tong L, Liu Q, Sun H, Feng M, Liang D, Wang W, Wang C.   +8 more
europepmc   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

Cell Proliferation, EarlyView.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far, Marziyeh Akbari, Mohammad Amin Habibi, Morteza Katavand, Sherko Nasseri   +4 more
wiley   +1 more source

Targeting indigenous <i>Schizosaccharomyces japonicus</i> for genotype exploration and organic acid degradation analysis. [PDF]

Front Microbiol
Chen Q, Wang C, Zhang Z, Yang Z, Zhou W, He J, Song A, Wu Y, Qiu S, Han L.   +9 more
europepmc   +1 more source

Identification and Validation of a Previously Missed Mutational Signature in Colorectal Cancer

Kazachkova M, Otlu B, Díaz-Gay M, Abbasi A, Moody S, Perdomo S, Wedge DC, Brennan P, Stratton MR, Alexandrov LB.   +9 more
europepmc   +1 more source