Institution
Leicester Royal Infirmary
Healthcare•Leicester, United Kingdom•
About: Leicester Royal Infirmary is a healthcare organization based out in Leicester, United Kingdom. It is known for research contribution in the topics: Population & Carotid endarterectomy. The organization has 5300 authors who have published 6204 publications receiving 208464 citations.
Papers published on a yearly basis
Papers
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TL;DR: A role for beta-MSH in the control of human energy homeostasis is support by screened the POMC gene in 538 patients with severe, early-onset obesity and identified five unrelated probands who were heterozygous for a rare missense variant in the region encoding beta- MSH, Tyr221Cys.
228 citations
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TL;DR: High-resolution immunofluorescence imaging and electron microscopy demonstrated complete or distal absence of DNAI2 from ciliary axonemes in respiratory cells of patients with mutations in genes encoding the ODA chains DNAH5 and DNAI1, respectively.
Abstract: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic destructive airway disease and randomization of left/right body asymmetry. Males often have reduced fertility due to impaired sperm tail function. The complex PCD phenotype results from dysfunction of cilia of the airways and the embryonic node and the structurally related motile sperm flagella. This is associated with underlying ultrastructural defects that frequently involve the outer dynein arm (ODA) complexes that generate cilia and flagella movement. Applying a positional and functional candidate-gene approach, we identified homozygous loss-of-function DNAI2 mutations (IVS11+1G > A) in four individuals from a family with PCD and ODA defects. Further mutational screening of 105 unrelated PCD families detected two distinct homozygous mutations, including a nonsense (c.787C > T) and a splicing mutation (IVS3-3T > G) resulting in out-of-frame transcripts. Analysis of protein expression of the ODA intermediate chain DNAI2 showed sublocalization throughout respiratory cilia. Electron microscopy showed that mutant respiratory cells from these patients lacked DNAI2 protein expression and exhibited ODA defects. High-resolution immunofluorescence imaging demonstrated absence of the ODA heavy chains DNAH5 and DNAH9 from all DNAI2 mutant ciliary axonemes. In addition, we demonstrated complete or distal absence of DNAI2 from ciliary axonemes in respiratory cells of patients with mutations in genes encoding the ODA chains DNAH5 and DNAI1, respectively. Thus, DNAI2 and DNAH5 mutations affect assembly of proximal and distal ODA complexes, whereas DNAI1 mutations mainly disrupt assembly of proximal ODA complexes.
227 citations
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TL;DR: It is shown here that insulinsecreting cells from a homogeneous group of five infants with PHHI lack ATP–sensitive K+ channel (KATP) activity, and PHHI β–cells are spontaneously electrically active with high basal cytosolic Ca2+ concentrations due to Ca2- influx.
Abstract: Loss of functional KATP channels in pancreatic β–cells causes persistent hyperinsulinemic hypoglycemia of infancy
227 citations
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Memorial Sloan Kettering Cancer Center1, Columbia University Medical Center2, NewYork–Presbyterian Hospital3, Hackensack University Medical Center4, Karolinska Institutet5, Northwestern University6, University of Colorado Boulder7, Yale University8, Harvard University9, University of Belgrade10, National Institutes of Health11, Syracuse University12, University of Rochester13, Fred Hutchinson Cancer Research Center14, University of São Paulo15, University of Pennsylvania16, Duke University17, Roswell Park Cancer Institute18, Rush University Medical Center19, Wayne State University20, Nottingham University Hospitals NHS Trust21, St James's University Hospital22, Royal Bournemouth Hospital23, Western General Hospital24, Leicester Royal Infirmary25, The Royal Marsden NHS Foundation Trust26, University of Birmingham27, Beatson West of Scotland Cancer Centre28, King's College London29, University of Oslo30, University of Oxford31
TL;DR: The data suggest that the subgroup of CLL patients admitted with COVID-19, regardless of disease phase or treatment status, are at high risk of death.
227 citations
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TL;DR: The gynaecological and obstetric management of women with inherited coagulation disorders requires close collaboration between obstetrician/gynaecologists and haematologists as mentioned in this paper.
Abstract: The gynaecological and obstetric management of women with inherited coagulation disorders requires close collaboration between obstetrician/gynaecologists and haematologists. Ideally these women should be managed in a joint disciplinary clinic where expertise and facilities are available to provide comprehensive assessment of the bleeding disorder and a combined plan of management. The haematologist should arrange and interpret laboratory tests and make provision for appropriate replacement therapy. These guidelines have been provided for healthcare professionals for information and guidance and it is also intended that they are readily available for women with bleeding disorders.
225 citations
Authors
Showing all 5314 results
Name | H-index | Papers | Citations |
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George Davey Smith | 224 | 2540 | 248373 |
Nilesh J. Samani | 149 | 779 | 113545 |
Peter M. Rothwell | 134 | 779 | 67382 |
John F. Thompson | 132 | 1420 | 95894 |
James A. Russell | 124 | 1024 | 87929 |
Paul Bebbington | 119 | 583 | 46341 |
John P. Neoptolemos | 112 | 648 | 52928 |
Richard C. Trembath | 107 | 368 | 41128 |
Andrew J. Wardlaw | 92 | 311 | 33721 |
Melanie J. Davies | 89 | 814 | 36939 |
Philip Quirke | 89 | 378 | 34071 |
Kenneth J. O'Byrne | 87 | 629 | 39193 |
David R. Jones | 87 | 707 | 40501 |
Keith R. Abrams | 86 | 355 | 30980 |
Martin J. S. Dyer | 85 | 373 | 24909 |