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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 ...
Serine synthesis pathway inhibition cooperates with dietary serine and glycine limitation for cancer therapy.
(NATURE RESEARCH, 2021-01-14)
Many tumour cells show dependence on exogenous serine and dietary serine and glycine starvation can inhibit the growth of these cancers and extend survival in mice. However, numerous mechanisms promote resistance to this ...
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 ...
Intimate partner violence crisis in the COVID-19 pandemic: how can radiologists make a difference?
(2020-12)
Key points • The COVID-19 crisis resulted in a variety of physical and mental health issues beyond the viral infection itself, as indicated by an increase in domestic violence.• Radiologists should be aware of typical ...
Protein-altering germline mutations implicate novel genes related to lung cancer development.
(NATURE PORTFOLIO, 2020-05-11)
Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect ...
Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics.
(WILEY, 2020-02-01)
Glioma incidence is highest in non-Hispanic Whites, and to date, glioma genome-wide association studies (GWAS) to date have only included European ancestry (EA) populations. African Americans and Hispanics in the US have ...
Second primary cancers in non-Hodgkin lymphoma: Family history and survival.
(WILEY, 2020-02)
Second primary cancers (SPCs) account for an increasing proportion of all cancer diagnoses and family history of cancer may be a risk factor for SPCs. Using the Swedish Family-Cancer Database on non-Hodgkin lymphoma (NHL), ...
Achieving In Vivo Target Depletion through the Discovery and Optimization of Benzimidazolone BCL6 Degraders.
(AMER CHEMICAL SOC, 2020-04-23)
Deregulation of the transcriptional repressor BCL6 enables tumorigenesis of germinal center B-cells, and hence BCL6 has been proposed as a therapeutic target for the treatment of diffuse large B-cell lymphoma (DLBCL). ...
Impact of antibiotic use during curative treatment of locally advanced head and neck cancers with chemotherapy and radiotherapy.
(ELSEVIER SCI LTD, 2020-05-01)
BACKGROUND: Pre-clinical evidence suggests reduced efficacy of anticancer treatment in patients exposed to broad-spectrum antibiotics. It is hypothesised that this phenomenon may be explained by the effects of antibiotics ...
Transplantation of discarded livers following viability testing with normothermic machine perfusion.
(NATURE PORTFOLIO, 2020-06-16)
There is a limited access to liver transplantation, however, many organs are discarded based on subjective assessment only. Here we report the VITTAL clinical trial (ClinicalTrials.gov number NCT02740608) outcomes, using ...