Browsing Other ICR Research by title
Now showing items 1-20 of 650
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
(MASSACHUSETTS MEDICAL SOC, 2021-11-11)BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care ... -
14-3-3 Proteins Interact with a Hybrid Prenyl-Phosphorylation Motif to Inhibit G Proteins
(Elsevier BV, 2013-04-01)Signaling through G proteins normally involves conformational switching between GTP- and GDP-bound states. Several Rho GTPases are also regulated by RhoGDI binding and sequestering in the cytosol. Rnd proteins are atypical ... -
2.5 Å-resolution structure of human CDK-activating kinase bound to the clinical inhibitor ICEC0942.
(CELL PRESS, 2021-02-16)The human CDK-activating kinase (CAK), composed of CDK7, cyclin H, and MAT1, is involved in the control of transcription initiation and the cell cycle. Because of these activities, it has been identified as a promising ... -
A Big Bang model of human colorectal tumor growth.
(NATURE PUBLISHING GROUP, 2015-03-01)What happens in early, still undetectable human malignancies is unknown because direct observations are impractical. Here we present and validate a 'Big Bang' model, whereby tumors grow predominantly as a single expansion ... -
A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.
(ELSEVIER SCIENCE INC, 2021-10-01)We report the first clinical-radiological-genetic-molecular-pathological study of a kindred with c.823-10G>T MAPT intronic variant (rs63749974) associated with frontotemporal dementia and parkinsonism linked to chromosome ... -
A comparison between cobalt and linear accelerator-based treatment plans for conformal and intensity-modulated radiotherapy
(BRITISH INST RADIOLOGY, 2008-04)The simplicity of cobalt units gives them the advantage ofreduced maintenance, running costs and downtime when compared with linear accelerators. However, treatments carried out on such units are typically limited to simple ... -
A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes.
(2018-05-22)Cross-talk between genes, transcripts, and proteins is the key to cellular responses; hence, analysis of molecular levels as distinct entities is slowly being extended to integrative studies to enhance the understanding ... -
A First-in-Human Study of Novel Cereblon Modulator Avadomide (CC-122) in Advanced Malignancies.
(AMER ASSOC CANCER RESEARCH, 2019-01-01)PURPOSE: Avadomide is a novel, small-molecule therapeutic agent that modulates cereblon E3 ligase activity and exhibits potent antitumor and immunomodulatory activities. This first-in-human phase I study (NCT01421524) ... -
A Four-Group Urine Risk Classifier for Predicting Outcome in Prostate Cancer Patients.
(2019-05-20)Objectives To develop a risk classifier using urine-derived extracellular vesicle RNA (UEV-RNA) capable of providing diagnostic information of disease status prior to biopsy, and prognostic information for men on active ... -
A Knockout Screen of ApiAP2 Genes Reveals Networks of Interacting Transcriptional Regulators Controlling the Plasmodium Life Cycle.
(CELL PRESS, 2017-01-11)A family of apicomplexa-specific proteins containing AP2 DNA-binding domains (ApiAP2s) was identified in malaria parasites. This family includes sequence-specific transcription factors that are key regulators of development. ... -
A molecular quantitative trait locus map for osteoarthritis.
(NATURE PORTFOLIO, 2021-02-26)Osteoarthritis causes pain and functional disability for over 500 million people worldwide. To develop disease-stratifying tools and modifying therapies, we need a better understanding of the molecular basis of the disease ... -
A mutation in the Gsk3-binding domain of zebrafish Masterblind/Axin1 leads to a fate transformation of telencephalon and eyes to diencephalon
(2001-06-01)Zebrafish embryos homozygous for the masterblind (mb1) mutation exhibit a striking phenotype in which the eyes and telencephalon are reduced or absent and diencephalic fates expand to the front of the brain. Here we show ... -
A national survey assessing public readiness for digital health strategies against COVID-19 within the United Kingdom.
(2021-03-16)There is concern that digital public health initiatives used in the management of COVID-19 may marginalise certain population groups. There is an overlap between the demographics of groups at risk of digital exclusion ... -
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.
(NATURE PORTFOLIO, 2020-01-16)Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential ... -
A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: A case control study in an Italian population
(2008-05)Background: Inherited genetic factors such as E-cadherin (CDH1) promoter variants are believed to influence the risk towards sporadic diffuse gastric cancer (DGC). Recently, a new regulatory region essential for CDH1 ... -
A novel gaze-controlled flexible robotized endoscope; preliminary trial and report.
(2021-05-24)Background Interventional endoluminal therapy is rapidly advancing as a minimally invasive surgical technique. The expanding remit of endoscopic therapy necessitates precision control. Eye tracking is an emerging technology ... -
A phase 1/2 study of thiotepa-based immunochemotherapy in relapsed/refractory primary CNS lymphoma: the TIER trial.
Relapsed or refractory primary central nervous system lymphoma (rrPCNSL) confers a poor prognosis with no accepted standard of care. Very few prospective studies have been conducted in this patient group. This study was a ... -
A phase space model of a Versa HD linear accelerator for application to Monte Carlo dose calculation in a real-time adaptive workflow.
(WILEY, 2022-09-01)PURPOSE: This study aims to develop and validate a simple geometric model of the accelerator head, from which a particle phase space can be calculated for application to fast Monte Carlo dose calculation in real-time ... -
A Pocket on the Surface of the N-Terminal BRCT Domain of Mcph1 Is Required to Prevent Abnormal Chromosome Condensation
(ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, 2010-02-05)Mcph1 is mutated in autosomal recessive primary microcephaly and premature chromosome condensation (PCC) syndrome. Increased chromosome condensation is a common feature of cells isolated from patients afflicted with either ...