Institution
University of Basel
Education•Basel, Basel-Stadt, Switzerland•
About: University of Basel is a education organization based out in Basel, Basel-Stadt, Switzerland. It is known for research contribution in the topics: Population & Gene. The organization has 25084 authors who have published 52975 publications receiving 2388002 citations. The organization is also known as: Universität Basel & Basel University.
Topics: Population, Gene, Medicine, Context (language use), Transplantation
Papers published on a yearly basis
Papers
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Christian R. Marshall, Daniel P. Howrigan1, Daniel P. Howrigan2, Daniele Merico +326 more•Institutions (98)
TL;DR: In this article, a centralized analysis pipeline was applied to a SCZ cohort of 21,094 cases and 20,227 controls, and a global enrichment of copy number variants (CNVs) was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10-15), which persisted after excluding loci implicated in previous studies.
Abstract: Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10-15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10-6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10-11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10-5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.
774 citations
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TL;DR: This work provides a quantitative description of the proteome of a commonly used human cell line in two functional states, interphase and mitosis, and shows that these human cultured cells express at least ∼10 000 proteins and that the quantified proteins span a concentration range of seven orders of magnitude up to 20 000 000 copies per cell.
Abstract: The generation of mathematical models of biological processes, the simulation of these processes under different conditions, and the comparison and integration of multiple data sets are explicit goals of systems biology that require the knowledge of the absolute quantity of the system's components. To date, systematic estimates of cellular protein concentrations have been exceptionally scarce. Here, we provide a quantitative description of the proteome of a commonly used human cell line in two functional states, interphase and mitosis. We show that these human cultured cells express at least ∼10 000 proteins and that the quantified proteins span a concentration range of seven orders of magnitude up to 20 000 000 copies per cell. We discuss how protein abundance is linked to function and evolution.
773 citations
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TL;DR: Sufficient material is ejected to explain the amount of r-process nuclei in the Galaxy by decompression of neutron star material, and the calculated abundances fit the observed solar r-pattern excellently for nuclei that include and are heavier than the A approximately 130 peak.
Abstract: The production site of the neutron-rich heavy elements that are formed by rapid neutron capture (the r-process) is still unknown despite intensive research. Here we show detailed studies of a scenario that has been proposed earlier by Lattimer & Schramm, Symbalisty & Schramm, Eichler et al., and Davies et al., namely the merger of two neutron stars. The results of hydrodynamic and full network calculations are combined in order to investigate the relevance of this scenario for r-process nucleosynthesis. Sufficient material is ejected to explain the amount of r-process nuclei in the Galaxy by decompression of neutron star material. Provided that the ejecta consist of matter with a proton-to-nucleon ratio of Ye approximately 0.1, the calculated abundances fit the observed solar r-pattern excellently for nuclei that include and are heavier than the A approximately 130 peak.
771 citations
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Veterans Health Administration1, University of California, San Diego2, University of Basel3, University of North Carolina at Chapel Hill4, Charité5, University of Hull6, University of Paris7, Linköping University8, Sapienza University of Rome9, Athens State University10, University of California, Los Angeles11, University of Toronto12, Imperial College London13, University College Dublin14, University of Helsinki15, Cleveland Clinic16, Baylor University Medical Center17, French Institute of Health and Medical Research18, Harvard University19
TL;DR: Ten key messages to clinicians are highlighted about the role of NP levels in state‐of‐the‐art clinical practice is evolving rapidly.
Abstract: Natriuretic peptide (NP) levels (B-type natriuretic peptide (BNP) and N-terminal proBNP) are now widely used in clinical practice and cardiovascular research throughout the world and have been incorporated into most national and international cardiovascular guidelines for heart failure. The role of NP levels in state-of-the-art clinical practice is evolving rapidly. This paper reviews and highlights ten key messages to clinicians: 1) NP levels are quantitative plasma biomarkers of heart failure (HF). 2) NP levels are accurate in the diagnosis of HF. 3) NP levels may help risk stratify emergency department (ED) patients with regard to the need for hospital admission or direct ED discharge. 4) NP levels help improve patient management and reduce total treatment costs in patients with acute dyspnoea. 5) NP levels at the time of admission are powerful predictors of outcome in predicting death and re-hospitalisation in HF patients. 6) NP levels at discharge aid in risk stratification of the HF patient. 7) NP-guided therapy may improve morbidity and/or mortality in chronic HF. 8) The combination of NP levels together with symptoms, signs and weight gain assists in the assessment of clinical decompensation in HF. 9) NP levels can accelerate accurate diagnosis of heart failure presenting in primary care. 10) NP levels may be helpful to screen for asymptomatic left ventricular dysfunction in high-risk patients.
770 citations
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TL;DR: The clinical distinction seemed to be superseded by an antibody-based classification in predicting some scleroderma complications, and the EUSTAR MEDS database facilitates the analysis of clinical patterns in SSc, and contributes to the standardised assessment and monitoring of SSc internationally.
Abstract: Background: Systemic sclerosis (SSc) is a
multisystem autoimmune disease which is classified into
a diffuse cutaneous (dcSSc) and a limited cutaneous
(lcSSc) subset according to the skin involvement. In
order to better understand the vascular, immunological
and fibrotic processes of SSc and to guide its treatment
the EULAR Scleroderma Trials And Research (EUSTAR) group
was formed in June 2004.
Aims and Methods: EUSTAR collects prospectively
the Minimal Essential Data Set (MEDS) on all sequential
patients fulfilling the ACR diagnostic criteria in
participating centres. We aimed to characterize
demographic, clinical and laboratory characteristics of
disease presentation in SSc and analysed EUSTAR baseline
visits.
Results: In April 2006, a total of 3656 patients
(1349 with dcSSc and 2101 with lcSSc) were enrolled in
102 centres and 30 countries. 1330 individuals had
autoantibodies against Scl70 and 1106 against
anticentromere antibodies. 87% of patients were female.
On multivariate analysis, scleroderma subsets (dcSSc vs.
lcSSc), antibody status and age at onset of Raynaud’s
phenomenon, but not gender were independently associated
with the prevalence of organ manifestations.
Autoantibody status in this analysis appeared more
closely associated with clinical manifestations than
were SSc subsets.
Conclusion: dcSSc and lcSSc subsets are
associated with particular organ manifestations, but in
this analysis the clinical distinction appeared
superseded by an antibody based classification in
predicting some scleroderma complications. The EUSTAR
MEDS data base facilitates the analysis of clinical
patterns in SSc and contributes to the standardised
assessment and monitoring of SSc internationally.
770 citations
Authors
Showing all 25374 results
Name | H-index | Papers | Citations |
---|---|---|---|
Yang Yang | 171 | 2644 | 153049 |
Martin Karplus | 163 | 831 | 138492 |
Frank J. Gonzalez | 160 | 1144 | 96971 |
Paul Emery | 158 | 1314 | 121293 |
Matthias Egger | 152 | 901 | 184176 |
Don W. Cleveland | 152 | 444 | 84737 |
Ashok Kumar | 151 | 5654 | 164086 |
Kurt Wüthrich | 143 | 739 | 103253 |
Thomas J. Smith | 140 | 1775 | 113919 |
Robert Huber | 139 | 671 | 73557 |
Peter Robmann | 135 | 1438 | 97569 |
Ernst Detlef Schulze | 133 | 670 | 69504 |
Michael Levine | 129 | 586 | 55963 |
Claudio Santoni | 129 | 1027 | 80598 |
Pablo Garcia-Abia | 126 | 989 | 78690 |