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Institution

Churchill Hospital

HealthcareOxford, United Kingdom
About: Churchill Hospital is a healthcare organization based out in Oxford, United Kingdom. It is known for research contribution in the topics: Population & Transplantation. The organization has 3548 authors who have published 5357 publications receiving 304275 citations.


Papers
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Journal ArticleDOI
TL;DR: It is concluded that acantholytic dyskeratotic naevi can arise from a somatic mutation in ATP2A2 and these individuals are mosaics for the mutation, but the risk of transmission of generalized Darier's disease will depend on whether the germline is affected.

157 citations

Journal ArticleDOI
TL;DR: Primary muscle shortening and secondary loss of muscle activity may be producing a movement disorder similar to the ‘Dropped Shoulder Syndrome’.
Abstract: Morbidity of the shoulder after breast cancer is a well-known phenomenon. MRI studies have shown muscle morbidity in cervical cancer and prostate cancer. In breast cancer clinical observations and patient reports include muscle morbidity in a number of muscles acting at the shoulder. Several of these muscles lie in the field of surgery and radiotherapy. Timed interaction between muscles that stabilise the shoulder and those acting as prime movers is essential to achieve a smooth scapulohumeral rthythm during functional elevation of the arm. Seventy-four women treated for unilateral carcinoma of the breast were included in the study. All patients filled out the Shoulder Pain and Disability Index (SPADI). EMG activity of four muscles was recorded during scaption on the affected and unaffected side. Muscle cross sectional area and signal intensity was determined from MRI scans. The association between EMG and covariates was determined using multiple linear regression techniques. Three of the 4 muscles on the affected side demonstrated significantly less EMG activity, particularly when lowering the arm. Upper trapezius demonstrated the greatest loss in activity. Decreased activity in both upper trapezius and rhomboid were significantly associated with an increase in SPADI score and increased time since surgery. Pectoralis major and minor were significantly smaller on the affected side. Muscles affected in the long term are the muscles associated with pain and disability yet are not in the direct field of surgery or radiotherapy. Primary muscle shortening and secondary loss of muscle activity may be producing a movement disorder similar to the ‘Dropped Shoulder Syndrome’. Exercise programmes should aim not only for range of movement but also for posture correction and education of potential long-term effects.

157 citations

Journal ArticleDOI
TL;DR: It is shown that some patients with isolated SVAS have point mutations that are predicted to lead to premature chain termination, and knowledge of the genomic structure will allow more extensive mutation screening in genomic DNA of patients with SVAS and other conditions.
Abstract: We describe the complete exon-intron structure of the human elastin (ELN) gene located at chromosome 7q11.23. There are 34 exons occupying approximately 47 kb of genomic DNA. All exons are in-frame, allowing exon skipping without disrupting the reading frame. Microsatellites are located in introns 17 and 18. Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN. We list primer pairs for amplifying each exon, with flanking intron, from genomic DNA to allow detection of point mutations in the ELN gene. We show that some patients with isolated SVAS have point mutations that are predicted to lead to premature chain termination. Knowledge of the genomic structure will allow more extensive mutation screening in genomic DNA of patients with SVAS and other conditions.

157 citations

Journal ArticleDOI
TL;DR: Epidermodysplasia verruciformis HPV types are those most plausibly linked to the development of squamous cell carcinomas of the skin.
Abstract: Background Human papillomaviruses (HPVs) are found in normal skin and in benign and malignant skin conditions. Epidermodysplasia verruciformis (EV) HPV types are those most plausibly linked to the development of squamous cell carcinomas of the skin.Objectives To assess the risk of nonmelanoma skin cancer (NMSC) associated with the presence of EV HPV in normal skin in immunocompetent (IC) individuals and renal transplant recipients (RTRs).Methods Using a degenerate and nested polymerase chain reaction technique, HPV DNA was sought in 124 normal skin samples from sun-exposed and nonsun-exposed sites, from 39 IC individuals and 38 RTRs, both with and without NMSC. Data were analysed using the Mantel-Haenszel test and by logistic regression analysis.Results HPV DNA was detected in 58/67 (87%) and 20/57 (35%) samples from renal transplant and IC patients, respectively. There was no difference in either the prevalence or spectrum of HPV types found in sun-exposed and nonsun-exposed normal skin. However, there was significant association between NMSC and the presence of EV HPV DNA. Multivariate analysis provided an odds ratio of 6.41 (95% confidence interval 1.79-22.9) for the association of EV HPV DNA in normal skin (irrespective of site) and NMSC status, even after stratifying for patient group and adjusting for the clustering effect of multiple sampling. Conversely, there was no association between skin cancer status and the presence of cutaneous or mucosal HPV types in either sun-exposed or nonsun-exposed skin.Conclusions HPV DNA is widespread in normal adult skin, particularly in transplant patients. In our study, the presence of EV but not cutaneous HPV DNA in normal skin was significantly associated with NMSC status and may prove to be of predictive value for skin cancer risk. These data provide reason to focus on EV HPV types as causal agents in skin cancer.

156 citations

Journal ArticleDOI
09 May 1986-Cell
TL;DR: It is shown that a point mutation causing hemophilia B changes the amino acid at position -4 in the propeptide region of factor IX from an arginine to a glutamine, which results in the expression of a stable longer protein with 18 additional amino acids of the N-terminal propeptides region still attached.

156 citations


Authors

Showing all 3565 results

NameH-indexPapersCitations
Mark I. McCarthy2001028187898
Adrian L. Harris1701084120365
Nicholas J. White1611352104539
Andrew T. Hattersley146768106949
Paul Harrison133140080539
John F. Thompson132142095894
Thomas N. Williams132114595109
Kevin Marsh12856755356
Mark Sullivan12680263916
Adrian V. S. Hill12258964613
Ian Tomlinson11960755576
Richard J.H. Smith118130861779
Angela Vincent11684352784
Cecilia M. Lindgren11536889219
François Nosten11477750823
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Performance
Metrics
No. of papers from the Institution in previous years
YearPapers
20235
202230
2021203
2020197
2019211
2018202