Institution
University of Tübingen
Education•Tübingen, Germany•
About: University of Tübingen is a education organization based out in Tübingen, Germany. It is known for research contribution in the topics: Population & Immune system. The organization has 40555 authors who have published 84108 publications receiving 3015320 citations. The organization is also known as: Eberhard Karls University & Eberhard-Karls-Universität Tübingen.
Topics: Population, Immune system, Transplantation, Context (language use), Gene
Papers published on a yearly basis
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TL;DR: Findings indicate that TRPM6 is crucial for magnesium homeostasis and implicate a TRPM family member in human disease, and are associated with autosomal-recessive hypomagnesemia with secondary hypocalcemia.
Abstract: Magnesium is an essential ion involved in many biochemical and physiological processes. Homeostasis of magnesium levels is tightly regulated and depends on the balance between intestinal absorption and renal excretion. However, little is known about specific proteins mediating transepithelial magnesium transport. Using a positional candidate gene approach, we identified mutations in TRPM6 (also known as CHAK2), encoding TRPM6, in autosomal-recessive hypomagnesemia with secondary hypocalcemia (HSH, OMIM 602014), previously mapped to chromosome 9q22 (ref. 3). The TRPM6 protein is a new member of the long transient receptor potential channel (TRPM) family and is highly similar to TRPM7 (also known as TRP-PLIK), a bifunctional protein that combines calcium- and magnesium-permeable cation channel properties with protein kinase activity. TRPM6 is expressed in intestinal epithelia and kidney tubules. These findings indicate that TRPM6 is crucial for magnesium homeostasis and implicate a TRPM family member in human disease.
717 citations
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TL;DR: A small number of recent studies have suggested that skin and fur-derived predator odors may have a more profound lasting effect on prey species than those derived from urine or feces.
715 citations
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University of Helsinki1, University of Oulu2, Turku University Hospital3, University of Turku4, University of Tampere5, Hannover Medical School6, University of Cambridge7, Netherlands Cancer Institute8, Institute of Cancer Research9, University of Melbourne10, University of Erlangen-Nuremberg11, University of California, Los Angeles12, University of London13, King's College London14, Wellcome Trust Centre for Human Genetics15, German Cancer Research Center16, Heidelberg University17, French Institute of Health and Medical Research18, Copenhagen University Hospital19, University of Copenhagen20, Beckman Research Institute21, University of California, Irvine22, Technische Universität München23, University of Cologne24, University of Tübingen25, Bosch26, Ruhr University Bochum27, Karolinska Institutet28, University of Eastern Finland29, QIMR Berghofer Medical Research Institute30, Katholieke Universiteit Leuven31, University of Hamburg32, Mayo Clinic33, Cancer Council Victoria34, University of Southern California35, Laval University36, Oslo University Hospital37, The Breast Cancer Research Foundation38, Vanderbilt University39, Oulu University Hospital40, Lunenfeld-Tanenbaum Research Institute41, University of Toronto42, Leiden University Medical Center43, Erasmus University Rotterdam44, Erasmus University Medical Center45, University of Sheffield46, Pontifical Xavierian University47, Pomeranian Medical University48
TL;DR: It is suggested that loss-of-function mutations in RAD 51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.
Abstract: Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.
715 citations
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TL;DR: A sharp distinction is drawn between a non-conceptual level of feeling of agency and a conceptual level of judgement of agency, which is able to provide a unified account for the sense of agency for both actions and thoughts.
709 citations
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St. Jude Children's Research Hospital1, German Cancer Research Center2, Heidelberg University3, University of Copenhagen4, Massachusetts Institute of Technology5, European Bioinformatics Institute6, Max Planck Society7, Broad Institute8, University Hospital Heidelberg9, Oregon Health & Science University10, Boston Children's Hospital11, University of Tübingen12, University of California, Los Angeles13, Hospital Sant Joan de Déu Barcelona14, Duke University15, McGill University16, Kitasato University17, BC Cancer Agency18, University of Toronto19
TL;DR: The application of integrative genomics to an extensive cohort of clinical samples derived from a single childhood cancer entity revealed a series of cancer genes and biologically relevant subtype diversity that represent attractive therapeutic targets for the treatment of patients with medulloblastoma.
Abstract: Current therapies for medulloblastoma, a highly malignant childhood brain tumour, impose debilitating effects on the developing child, and highlight the need for molecularly targeted treatments with reduced toxicity. Previous studies have been unable to identify the full spectrum of driver genes and molecular processes that operate in medulloblastoma subgroups. Here we analyse the somatic landscape across 491 sequenced medulloblastoma samples and the molecular heterogeneity among 1,256 epigenetically analysed cases, and identify subgroup-specific driver alterations that include previously undiscovered actionable targets. Driver mutations were confidently assigned to most patients belonging to Group 3 and Group 4 medulloblastoma subgroups, greatly enhancing previous knowledge. New molecular subtypes were differentially enriched for specific driver events, including hotspot in-frame insertions that target KBTBD4 and 'enhancer hijacking' events that activate PRDM6. Thus, the application of integrative genomics to an extensive cohort of clinical samples derived from a single childhood cancer entity revealed a series of cancer genes and biologically relevant subtype diversity that represent attractive therapeutic targets for the treatment of patients with medulloblastoma.
706 citations
Authors
Showing all 41039 results
Name | H-index | Papers | Citations |
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John Q. Trojanowski | 226 | 1467 | 213948 |
Lily Yeh Jan | 162 | 467 | 73655 |
Monique M.B. Breteler | 159 | 546 | 93762 |
Wolfgang Wagner | 156 | 2342 | 123391 |
Thomas Meitinger | 155 | 716 | 108491 |
Hermann Brenner | 151 | 1765 | 145655 |
Amartya Sen | 149 | 689 | 141907 |
Bernhard Schölkopf | 148 | 1092 | 149492 |
Niels Birbaumer | 142 | 835 | 77853 |
Detlef Weigel | 142 | 516 | 84670 |
Peter Lang | 140 | 1136 | 98592 |
Marco Colonna | 139 | 512 | 71166 |
António Amorim | 136 | 1477 | 96519 |
Alexis Brice | 135 | 870 | 83466 |
Elias Campo | 135 | 761 | 85160 |