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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
(NATURE PORTFOLIO, 2020-07-23)
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome ...
Taste dysfunction following radiotherapy to the head and neck: A systematic review.
(ELSEVIER IRELAND LTD, 2021-04-01)
BACKGROUND: An intact sense of taste provides pleasure, supports sustenance and alerts the body to toxins. Head and neck cancer (HNC) patients who receive radiotherapy (RT) are high-risk for developing radiation-induced ...
The Changing Landscape of Therapeutic Cancer Vaccines-Novel Platforms and Neoantigen Identification.
(AMER ASSOC CANCER RESEARCH, 2021-02-01)
Therapeutic cancer vaccines, an exciting development in cancer immunotherapy, share the goal of creating and amplifying tumor-specific T-cell responses, but significant obstacles still remain to their success. Here, we ...
Tipifarnib in Head and Neck Squamous Cell Carcinoma With HRAS Mutations.
(LIPPINCOTT WILLIAMS & WILKINS, 2021-06-10)
PURPOSE: Mutations in the HRAS (mHRAS) proto-oncogene occur in 4%-8% of patients with recurrent and/or metastatic (R/M) head and neck squamous cell carcinoma (HNSCC). Tipifarnib is a farnesyltransferase inhibitor that ...
The utility of TP53 and PIK3CA mutations as prognostic biomarkers in salivary adenoid cystic carcinoma.
(ELSEVIER, 2021-02-01)
OBJECTIVES: Despite wide excision and post-operative irradiation, loco-regional and/or metastatic recurrence is a significant clinical problem in salivary adenoid cystic carcinoma (SACC). Reliable biomarkers are required ...
Comparing programmed death ligand 1 scores for predicting pembrolizumab efficacy in head and neck cancer.
(ELSEVIER SCIENCE INC, 2020-11-25)
Tumor proportion score (TPS) and combined positive score ([CPS] includes immune cells), 2 methods for scoring programmed death ligand 1 (PD-L1) expression, have been used in clinical trials investigating the immune checkpoint ...
Using Deep Learning to Extrapolate Protein Expression Measurements.
(WILEY, 2020-11-01)
Mass spectrometry (MS)-based quantitative proteomics experiments typically assay a subset of up to 60% of the ≈20 000 human protein coding genes. Computational methods for imputing the missing values using RNA expression ...
Differential and longitudinal immune gene patterns associated with reprogrammed microenvironment and viral mimicry in response to neoadjuvant radiotherapy in rectal cancer.
(BMJ PUBLISHING GROUP, 2021-03-01)
BACKGROUND: Rectal cancers show a highly varied response to neoadjuvant radiotherapy/chemoradiation (RT/CRT) and the impact of the tumor immune microenvironment on this response is poorly understood. Current clinical tumor ...
Clustering of Tir during enteropathogenic E. coli infection triggers calcium influx-dependent pyroptosis in intestinal epithelial cells.
(PUBLIC LIBRARY SCIENCE, 2020-12-30)
Clustering of the enteropathogenic Escherichia coli (EPEC) type III secretion system (T3SS) effector translocated intimin receptor (Tir) by intimin leads to actin polymerisation and pyroptotic cell death in macrophages. ...
CHD7 and 53BP1 regulate distinct pathways for the re-ligation of DNA double-strand breaks.
(NATURE RESEARCH, 2020-11-13)
Chromatin structure is dynamically reorganized at multiple levels in response to DNA double-strand breaks (DSBs). Yet, how the different steps of chromatin reorganization are coordinated in space and time to differentially ...