Results 221 to 230 of about 747,509 (280)

A pipeline for identifying guide RNA sequences that promote RNA editing of nonsense mutations that cause inherited retinal diseases. [PDF]

Mol Ther Nucleic Acids
Schneider N, Steinberg R, Ben-David A, Valensi J, David-Kadoch G, Rosenwasser Z, Banin E, Levanon EY, Sharon D, Ben-Aroya S.   +9 more
europepmc   +1 more source

AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other embryonal tumors

Brain Pathology, EarlyView.
Resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other CNS embryonal tumors are provided. Abstract WHO CNS5 mandates integrated histo‐molecular classification of medulloblastomas (MBs) and other CNS embryonal tumors. However, advanced molecular diagnostics remain inaccessible in many low‐ and lower‐middle‐
Chitra Sarkar, Maysa Al‐Hussaini, Vani Santosh, Vaishali Suri, Sung‐Hye Park, Yue‐Shan Piao, Tarik Tihan, Ho‐Keung Ng, Michael Buckland, Rakesh Jalali, Yonehiro Kanemura, Pieter Wesseling, Takashi Komori   +12 more
wiley   +1 more source

A Three‐Dimensional Culture–Drug Sensitivity Test Predicts MDM2 Inhibitor–Sensitivity in SMARCB1/INI1‐Deficient Tumors

Cancer Science, EarlyView.
This study aimed to determine whether personalized selection of effective drugs for SMARCB1/INI1‐deficient tumors is feasible using in vitro drug sensitivity profiling. Drug sensitivity was assessed using a short‐term collagen gel–embedded three‐dimensional drug sensitivity test (3D‐DST) in tumors derived from SMARCB1/INI1‐deficient tumor cell line ...
Hiroaki Goto, Chiyoko Nishime, Takashi Ohtsu, Mieko Ito, Maiko Sagisaka, Takuya Naruto, Norihiko Kitagawa, Mio Tanaka, Masakatsu Yanagimachi, Yukihiko Hiroshima, Junko Takita, Yasuhide Hayashi, Yohei Miyagi   +12 more
wiley   +1 more source

Genetic Evolution in BRCA1‐Associated Breast Cancer Reveals Early Driver Mutations Shaping Tumor Features and Prognosis

Cancer Science, EarlyView.
Multi‐region sequencing of 57 BRCA1‐associated breast cancers identified TP53 as the dominant initial driver, defining a triple‐negative subgroup with biallelic BRCA1 loss and elevated genomic instability. TP53 truncating mutations were enriched in BRCA1 carriers and linked to reduced HRD, EMT activation, and a trend toward worse survival.
Li Hu, Zhongwu Li, Qiting Wan, Xingyu Liao, Yaxin Zhang, Qian Liu, Xinyun Ding, Hua Meng, Yifan Wu, Jie Sun, Juan Zhang, Lu Yao, Ye Xu, Yuntao Xie   +13 more
wiley   +1 more source

Splicing Factor Mutations in Clonal Hematopoiesis and Progression to Myeloid Neoplasms

Cancer Science, EarlyView.
Splicing factor (SF)‐mutant CH is characterized by relatively late emergence and accelerated clonal expansion in older individuals. This review summarizes its clonal dynamics, disease‐associated consequences of SF mutations in myeloid neoplasms, and candidate mechanisms that may contribute to age‐dependent selection.
Yang Lyu, Yutong Zhang, Ayana Kon
wiley   +1 more source

Elucidating PI3K/AKT/PTEN Pathway Alterations at Single‐Cell Level in CTCs From HR+/HER2− Metastatic Breast Cancer

Cancer Science, EarlyView.
Single CTC analysis revealed extensive inter‐ and intra‐patient heterogeneity of PI3K/AKT/PTEN pathway alterations in HR+/HER2− metastatic breast cancer, capturing both SNVs and CNAs, including PTEN loss‐of‐function events. Longitudinal CTC profiling also uncovered dynamic clonal evolution, highlighting its potential to complement tissue and ctDNA ...
Tania Rossi, Michela Palleschi, Caterina Gianni, Filippo Merloni, Alessandra Virga, Sara Bandini, Davide Angeli, Michela Tebaldi, Roberta Maltoni, Paola Ulivi, Antonino Musolino   +10 more
wiley   +1 more source

Machine Learning‐Derived Immune Gene Signature Predicts Prognosis and Therapeutic Vulnerabilities in Multiple Myeloma

Cancer Science, EarlyView.
An immune‐related 12‐gene signature developed through integrative machine learning stratified overall survival across multiple myeloma cohorts and remained independently associated with outcome. Single‐cell, somatic mutation, and transcriptome‐based drug‐response analyses further linked the signature to multicellular bone marrow context, distinct ...
Kai Wang, Chenfei Zhao, Jingru Shi, Shiwei Liu, Yi Chen, Jujuan Wang, Zhengxu Sun, Sanmei Wang, Lei Fan, Jin Fan, Xiaoyan Qu   +10 more
wiley   +1 more source

PABPC1 in Cancer: From a Translational Housekeeper to a Stress‐Responsive Regulatory Hub

Cancer Science, EarlyView.
PABPC1 shifts from a translational housekeeper to a stress‐responsive oncogenic hub via phase separation, PTMs, and non‐coding RNA crosstalk, selectively driving oncogene translation and therapy resistance in cancer. ABSTRACT PABPC1, long recognized as a constitutive translational housekeeper, has emerged as a stress‐responsive translational ...
Cuiwei Zhang, Ye Zhu, Wenbo Long
wiley   +1 more source

CRB1‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background The lack of validated and sensitive clinical endpoints remains a major challenge in the design of gene therapy trials for inherited retinal dystrophies (IRDs). This prospective longitudinal cohort study describes the natural disease progression of IRDs caused by pathogenic mutations in the Crumbs homologue 1 (CRB1) gene, and ...
Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Jos Twisk, Nicoline E. Schalij‐Delfos, Caroline C. W. Klaver, Ralph J. Florijn, Jacoline B. ten Brink, Magda A. Smoor, L. Ingeborgh van den Born, Carel B. Hoyng, Alberta A. H. J. Thiadens, Camiel J. F. Boon   +15 more
wiley   +1 more source

Kcnv2 E151X Mouse Captures Hallmarks of KCNV2‐Associated Retinal Dystrophy

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background KCNV2‐associated retinopathy is a rare inherited retinal dystrophy caused by variants in the KCNV2 gene, leading to disrupted photoreceptor behaviour and progressive deterioration of vision. Patients have characteristic electroretinography abnormalities, including reduced cone response, delayed and reduced rod response to low light ...
Nermina Xhaferri, Sumit Biswas, Benjamin Davies, Moritz Lindner   +3 more
wiley   +1 more source