Results 91 to 100 of about 4,897 (187)

Wwox Deletion in Mouse B Cells Leads to Genomic Instability, Neoplastic Transformation, and Monoclonal Gammopathies

Frontiers in Oncology, 2019
WWOX (WW domain containing oxidoreductase) expression loss is common in various cancers and characteristic of poor prognosis. Deletions, translocations, and loss of expression affecting the WWOX gene are a common feature of various B cell neoplasms such ...
Kevin M. McBride, Hyunsuk Kil, Yunxiang Mu, Joshua B. Plummer, Jaeho Lee, Maciej J. Zelazowski, Manu Sebastian, Martin C. Abba, C. Marcelo Aldaz   +8 more
doaj   +1 more source

Genomic Alteration in Head and Neck Squamous Cell Carcinoma (HNSCC) Cell Lines Inferred from Karyotyping, Molecular Cytogenetics, and Array Comparative Genomic Hybridization. [PDF]

PLoS ONE, 2016
Genomic alteration in head and neck squamous cell carcinoma (HNSCC) was studied in two cell line pairs (HN30-HN31 and HN4-HN12) using conventional C-banding, multiplex fluorescence in situ hybridization (M-FISH), and array comparative genomic ...
Worapong Singchat, Ekarat Hitakomate, Budsaba Rerkarmnuaychoke, Aorarat Suntronpong, Beiyuan Fu, Winai Bodhisuwan, Surin Peyachoknagul, Fengtang Yang, Sittichai Koontongkaew, Kornsorn Srikulnath   +9 more
doaj   +1 more source

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome [PDF]

, 2015
Background: The genetic etiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative
Abdel-Salam, Ahram, Alexander F Markham, Anglesio, Au, Carr, Chang, Christopher P Bennett, Clare V Logan, Corcoran, David A Parry, David T Bonthron, Deciphering Developmental Disorders Study, Eamonn G Sheridan, Frank J Kaiser, Gabriele Gillessen-Kaesbach, Georg C Korenke, Hadchouel, Haruta, Hibi, Hu, Ian M Carr, Kaartinen, Lachance, Lewerenz, Lisa Nalbach, Luo, Mallaret, Mulherkar, Mushtaq Ahmed, Nagase, Parry, Ronja Hollstein, Sakata, Sandeep Uppal, Schwarz, Slade, Song, Tang, Thomas Wieland, Tim M Strom, Torrino, Verity L Hartill, Yu, Zhang, Zhao   +45 more
core   +3 more sources

Whole‐Exome Sequencing to Screen Personal Neoantigens With High Immunogenicity in Patients With Microsatellite Stability (MSS)–Advanced Colorectal Cancer

Human Mutation, Volume 2026, Issue 1, 2026.
To develop a personalized neoantigen therapy strategy for microsatellite stability (MSS)–advanced colorectal cancer (CRC), neoantigens from collected human CRC samples were screened, and the feasibility and effectiveness of these neoantigens in treating CRC were explored.
Dajiang Li, Wenjing Shen, Siyu Yang, Hongmei Liu, Xiao Tan, Xinrong He, Jingchao Hao, Xinqiang Yin, Finlay Macrae   +8 more
wiley   +1 more source

The RAG Model: a new paradigm for genetic risk stratification in multiple myeloma [PDF]

, 2014
Molecular studies have shown that multiple myeloma is a highly genetically heterogonous disease which may manifest itself as any number of diverse subtypes each with variable clinicopathological features and outcomes.
Chevassut, Timothy J, Conway O'Brien, Emma, Prideaux, Steven M   +2 more
core   +3 more sources

WWOX Phosphorylation, Signaling, and Role in Neurodegeneration

Frontiers in Neuroscience, 2018
Homozygous null mutation of tumor suppressor WWOX/Wwox gene leads to severe neural diseases, metabolic disorders and early death in the newborns of humans, mice and rats.
Chan-Chuan Liu, Chan-Chuan Liu, Pei-Chuan Ho, I.-Ting Lee, Yu-An Chen, Chun-Hsien Chu, Chih-Chuan Teng, Sheng-Nan Wu, Chun-I. Sze, Chun-I. Sze, Ming-Fu Chiang, Nan-Shan Chang, Nan-Shan Chang, Nan-Shan Chang, Nan-Shan Chang   +14 more
doaj   +1 more source

Dissecting Intra-Tumor Heterogeneity by the Analysis of Copy Number Variations in Single Cells: The Neuroblastoma Case Study [PDF]

, 2019
Tumors often show intra-tumor heterogeneity because of genotypic differences between all the cells that compose it and that derive from it. Recent studies have shown significant aspects of neuroblastoma heterogeneity that may affect the diagnostic ...
Borrillo, Francesca, Cariati, Federica, D'Argenio, Valeria, Nunziato, Marcella, Shankar, Varun, Tomaiuolo, Rossella   +5 more
core   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

The Role of DNA Methyltransferases in Urinary System Diseases

Cancer Innovation, Volume 4, Issue 6, December 2025.
Multiple signaling pathways mediated by DNMTs in the formation of renal fibrosis: (a) DNMTs suppress the expression of transcription factor KLF4 by mediating promoter hypermethylation, thereby promoting epithelial–mesenchymal transition and contributing to the development of renal fibrosis; (b) oxidative stress can upregulate the levels of DNMTs, which
Wei Dong, Shengbin Pei, Dacheng Zhu, Cheng Zeng, Yue Qiu, Yuxin Wu, Xinlu Jia, Siqi Zhang, Chao Li, Wenjuan Zhang, Wenbing Zhang, Zhihua Chen   +11 more
wiley   +1 more source

Genome-Wide Copy Number Analysis in Esophageal Adenocarcinoma Using High-Density Single-Nucleotide Polymorphism Arrays [PDF]

, 2008
We applied whole-genome single-nucleotide polymorphism arrays to define a comprehensive genetic profile of 23 esophageal adenocarcinoma (EAC) primary tumor biopsies based on loss of heterozygosity (LOH) and DNA copy number changes.
Clouston, Andrew D, Drew, Paul Anthony, Gotley, David C, Handoko, Herlina Y, Hayward, Nicholas K, Nancarrow, Derek J, Smithers, B Mark, Watson, David Ian, Whiteman, David C   +8 more
core   +1 more source