Results 41 to 50 of about 7,424,997 (207)

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases

Scientific Reports
The JAK-STAT pathway is central to cytokine signaling and controls normal physiology and disease. Aberrant activation via mutations that change amino acids in proteins of the pathway can result in diseases.
Markus Hoffmann, Lothar Hennighausen
doaj   +1 more source

Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background

Frontiers in Endocrinology, 2023
BackgroundPapillary thyroid cancer (PTC) is the most common thyroid malignancy. Concurrent presence of cytomorphological benign thyroid goitre (BTG) and PTC lesion is often detected. Aberrant protein profiles were previously reported in patients with and
Zing Hong Eng, Mardiaty Iryani Abdullah, Mardiaty Iryani Abdullah, Khoon Leong Ng, Azlina Abdul Aziz, Nurul Hannis Arba’ie, Nurullainy Mat Rashid, Sarni Mat Junit   +7 more
doaj   +1 more source

Developmental programmes drive cellular plasticity, disease progression and therapy resistance in lung adenocarcinoma

Molecular Oncology, EarlyView.
This study shows that lung adenocarcinomas exploit developmental branching morphogenesis to acquire a therapy resistant basal‐like tumour cell state. This process was found to be regulated by combined TP53 loss‐of‐function and type‐I interferon signalling, identifying a novel axis for biomarker and therapeutic target discovery.
Kamila J Bienkowska, Stephany Gallardo, Nur S. Zainal, Leena Arora, Matthew Ellis, Maria‐Antoinette Lopez, Judith Austine, Sai Pittla, Serena J Chee, Aiman Alzetani, Emily C Shaw, Christian H Ottensmeier, Gareth J Thomas, Christopher J Hanley   +13 more
wiley   +1 more source

Integrating cancer survivors' experiences into UK cancer registries: design and development of the ePOCS system (electronic Patient-reported Outcomes from Cancer Survivors). [PDF]

, 2011
BACKGROUND: Understanding the psychosocial challenges of cancer survivorship, and identifying which patients experience ongoing difficulties, is a key priority.
Velikova, G, Morris, E, P Wright, E Morris, A Newsham, Johnson, O, Ashley, L, L Ashley, D Forman, Newsham, A, Newsham, AC, Forman, D, G Velikova, J Thomas, Thomas, J, H Jones, Jones, H, O Johnson, Wright, P   +18 more
core   +1 more source

Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation

Frontiers in Oncology
BackgroundHigh-grade colorectal neuroendocrine carcinoma (HCNEC) is a rare but aggressive subset of neuroendocrine tumors. This study was designed to construct a risk model based on comprehensive clinical and mutational genomics data to facilitate ...
Ruixin Wu, Ruixin Wu, Sihao Chen, Sihao Chen, Yi He, Yi He, Ya Li, Song Mu, Aishun Jin, Aishun Jin   +9 more
doaj   +1 more source

Mutational landscape differences between young-onset and older-onset breast cancer patients

BMC Cancer, 2020
Background The incidence of breast cancer among young women (aged ≤40 years) has increased in North America and Europe. Fewer than 10% of cases among young women are attributable to inherited BRCA1 or BRCA2 mutations, suggesting an important role for ...
Nicole E. Mealey, Dylan E. O’Sullivan, Joy Pader, Yibing Ruan, Edwin Wang, May Lynn Quan, Darren R. Brenner   +6 more
doaj   +1 more source

Deep Contrastive Learning for High‐Throughput Prediction of Drug Resistance Mutations from Sequences

Advanced Science, EarlyView.
This study presents DeepMutDTA, a deep learning framework aimed at predicting mutation‐induced changes in protein‐drug interactions and prioritizing variants potentially linked to drug resistance. Trained on large‐scale data, it incorporates SimSiam‐MuTF, a label‐aware contrastive fine‐tuning strategy that encourages separation between WT and MT ...
Xiaowen Hu, Pan Zhang, Shangqian Wu, Hao Sun, Minwei Li, Sophia Tsoka, Zizhang Sheng, Lei Deng   +7 more
wiley   +1 more source

New Lung Cancer Panel for High-Throughput Targeted Resequencing [PDF]

Genomics & Informatics, 2014
We present a new next-generation sequencing-based method to identify somatic mutations of lung cancer. It is a comprehensive mutation profiling protocol to detect somatic mutations in 30 genes found frequently in lung adenocarcinoma.
Eun-Hye Kim, Sunghoon Lee, Jongsun Park, Kyusang Lee, Jong Bhak, Byung Chul Kim   +5 more
doaj   +1 more source

Single‐Cell RNA Editing Identifies T Cell ADAR1 as a Key Regulator of Immune Exhaustion and Anti‐PD‐1 Resistance in Colorectal Cancer

Advanced Science, EarlyView.
Single‐cell RNA editing analysis identifies ADAR1 as a regulator of dysfunctional T cell states in colorectal cancer. Elevated ADAR1 activity promotes T cell exhaustion and impairs antitumor immunity partly through TGF‐β‐SMAD signaling, contributing to anti‐PD‐1 resistance and highlighting T cell ADAR1 as a potential therapeutic target and biomarker ...
Da Kang, Song‐Zuo Xie, Yong‐Zhou Luo, Xin‐Pei Deng, Xi‐Rong Tan, Ze‐Geng Chen, Ling‐Xing Zeng, Gong Chen, Pei‐Rong Ding, Zhi‐Zhong Pan, Rong‐Xin Zhang   +10 more
wiley   +1 more source

Cancer trends: Breast, cervical and colorectal cancer 1994-2019: National trends for cancers with population-based screening programmes in Ireland

, 2022
The overall burden of cancer in Ireland is increasing, primarily due to population growth and ageing, with the annual number of cases of breast cancer, cervical cancer and colorectal cancer estimated to increase by 50%, 56% and 113% respectively by 2045 ...
National Cancer Registry Ireland (NCRI)
core