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Institution

University of Tübingen

EducationTübingen, Germany
About: University of Tübingen is a education organization based out in Tübingen, Germany. It is known for research contribution in the topics: Population & Transplantation. 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.


Papers
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Journal ArticleDOI
TL;DR: The phenotypic spectrum and natural history of the disease in 102 affected individuals from 29 families with biopsy‐proven CADASIL were delineated, and the extent of disability in different age groups was studied.
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized autosomal dominant disorder that leads to cerebrovascular manifestations in early adulthood. This study delineates the phenotypic spectrum and the natural history of the disease in 102 affected individuals from 29 families with biopsy‐proven CADASIL. Recurrent ischemic episodes (transient ischemic attack [TIA] or stroke) were the most frequent presentation found in 71% of the cases (mean age at onset, 46.1 years; range, 30–66 years; SD, 9.0 years). Forty‐eight percent of the cases had developed cognitive deficits. Dementia (28%) was frequently accompanied by gait disturvance (90%), urinary incontinence (86%), and pseudobulbar palsy (52%). Thirty‐nine patients (38%) had a history of migraine (mean age at oneset, 26.0 years; SD, 8.2 years), which was classified as migraine with aura in 87% of the cases. Psychiatric disturbances were present in 30% of the cases, with adjustment disorder (24%) being the most frequent diagnosis. Ten patients (10%) had a history of epileptic seizures. To delineate the functional consequences of ischemic deficits, we studied the extent of disability in different age groups. The full spectrum of disability was seen in all groups older than age 45. Fifty‐five percent of the patients older than age 60 were unable to walk without assistance. However, 14% in this age group exhibited no disability at all. Kaplan‐Meier analysis disclosed median survival times of 64 years (males) and 69 years (females). An investigation of the 18 multiplex families revealed marked intrafamilial variations.

664 citations

Journal ArticleDOI
TL;DR: A specialized database (DB) for Arabidopsis membrane proteins, ARAMEMNON, was designed that facilitates the interpretation of gene and protein sequence data by integrating features that are presently only available from individual sources.
Abstract: A specialized database (DB) for Arabidopsis membrane proteins, ARAMEMNON, was designed that facilitates the interpretation of gene and protein sequence data by integrating features that are presently only available from individual sources Using several publicly available prediction programs, putative integral membrane proteins were identified among the approximately 25,500 proteins in the Arabidopsis genome DBs By averaging the predictions from seven programs, approximately 6,500 proteins were classified as transmembrane (TM) candidate proteins Some 1,800 of these contain at least four TM spans and are possibly linked to transport functions The ARAMEMNON DB enables direct comparison of the predictions of seven different TM span computation programs and the predictions of subcellular localization by eight signal peptide recognition programs A special function displays the proteins related to the query and dynamically generates a protein family structure As a first set of proteins from other organisms, all of the approximately 700 putative membrane proteins were extracted from the genome of the cyanobacterium Synechocystis sp and incorporated in the ARAMEMNON DB The ARAMEMNON DB is accessible at the URL http://aramemnonbotanikuni-koelnde

663 citations

Journal ArticleDOI
31 Mar 2011-Nature
TL;DR: It is reported that SHARPIN functions as a novel component of the linear ubiquitin chain assembly complex (LUBAC) and that the absence of SHARPin causes dysregulation of NF-κB and apoptotic signalling pathways, explaining the severe phenotypes displayed by chronic proliferative dermatitis (cpdm) in SHARPIn-deficient mice.
Abstract: SHARPIN is a ubiquitin-binding and ubiquitin-like-domain-containing protein which, when mutated in mice, results in immune system disorders and multi-organ inflammation. Here we report that SHARPIN functions as a novel component of the linear ubiquitin chain assembly complex (LUBAC) and that the absence of SHARPIN causes dysregulation of NF-κB and apoptotic signalling pathways, explaining the severe phenotypes displayed by chronic proliferative dermatitis (cpdm) in SHARPIN-deficient mice. Upon binding to the LUBAC subunit HOIP (also known as RNF31), SHARPIN stimulates the formation of linear ubiquitin chains in vitro and in vivo. Coexpression of SHARPIN and HOIP promotes linear ubiquitination of NEMO (also known as IKBKG), an adaptor of the IκB kinases (IKKs) and subsequent activation of NF-κB signalling, whereas SHARPIN deficiency in mice causes an impaired activation of the IKK complex and NF-κB in B cells, macrophages and mouse embryonic fibroblasts (MEFs). This effect is further enhanced upon concurrent downregulation of HOIL-1L (also known as RBCK1), another HOIP-binding component of LUBAC. In addition, SHARPIN deficiency leads to rapid cell death upon tumour-necrosis factor α (TNF-α) stimulation via FADD- and caspase-8-dependent pathways. SHARPIN thus activates NF-κB and inhibits apoptosis via distinct pathways in vivo.

663 citations

Journal ArticleDOI
TL;DR: The nf-core framework is introduced as a means for the development of collaborative, peerreviewed, best-practice analysis pipelines that can be used across all institutions and research facilities and introduces a higher degree of portability as compared to custom in-house scripts.
Abstract: To the Editor — The standardization, portability and reproducibility of analysis pipelines are key issues within the bioinformatics community. Most bioinformatics pipelines are designed for use on-premises; as a result, the associated software dependencies and execution logic are likely to be tightly coupled with proprietary computing environments. This can make it difficult or even impossible for others to reproduce the ensuing results, which is a fundamental requirement for the validation of scientific findings. Here, we introduce the nf-core framework as a means for the development of collaborative, peerreviewed, best-practice analysis pipelines (Fig. 1). All nf-core pipelines are written in Nextflow and so inherit the ability to be executed on most computational infrastructures, as well as having native support for container technologies such as Docker and Singularity. The nf-core community (Supplementary Fig. 1) has developed a suite of tools that automate pipeline creation, testing, deployment and synchronization. Our goal is to provide a framework for high-quality bioinformatics pipelines that can be used across all institutions and research facilities. Being able to reproduce scientific results is the central tenet of the scientific method. However, moving toward FAIR (findable, accessible, interoperable and reusable) research methods1 in data-driven science is complex2,3. Central repositories, such as bio. tools4, omictools5 and the Galaxy toolshed6, make it possible to find existing pipelines and their associated tools. However, it is still notoriously challenging to develop analysis pipelines that are fully reproducible and interoperable across multiple systems and institutions — primarily because of differences in hardware, operating systems and software versions. Although the recommended guidelines for some analysis pipelines have become standardized (for example, GATK best practices7), the actual implementations are usually developed on a case-by-case basis. As such, there is often little incentive to test, document and implement pipelines in a way that permits their reuse by other researchers. This can hamper sustainable sharing of data and tools, and results in a proliferation of heterogeneous analysis pipelines, making it difficult for newcomers to find what they need to address a specific analysis question. As the scale of -omics data and their associated analytical tools has grown, the scientific community is increasingly moving toward the use of specialized workflow management systems to build analysis pipelines8. They separate the requirements of the underlying compute infrastructure from the analysis and workflow description, introducing a higher degree of portability as compared to custom in-house scripts. One such popular tool is Nextflow9. Using Nextflow, software packages can be bundled with analysis pipelines using built-in integration for package managers, such as Conda, and containerization platforms, such as Docker and Singularity. Moreover, support for most common highperformance-computing batch schedulers and cloud providers allows simple deployment of analysis pipelines on almost any infrastructure. The opportunity to run pipelines locally during initial development and then to proceed seamlessly to largescale computational resources in highperformance-computing or cloud settings provides users and developers with great flexibility. The nf-core community project collects a curated set of best-practice analysis pipelines built using Nextflow. Similar projects Participate

663 citations

Journal ArticleDOI
TL;DR: It is shown that overexpression of Polo-like kinase 4 (Plk4) in human cells induces centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole, and that centrioles elongate through insertion of alpha-/beta-tubulin underneath a CP110 cap.

662 citations


Authors

Showing all 41039 results

NameH-indexPapersCitations
John Q. Trojanowski2261467213948
Lily Yeh Jan16246773655
Monique M.B. Breteler15954693762
Wolfgang Wagner1562342123391
Thomas Meitinger155716108491
Hermann Brenner1511765145655
Amartya Sen149689141907
Bernhard Schölkopf1481092149492
Niels Birbaumer14283577853
Detlef Weigel14251684670
Peter Lang140113698592
Marco Colonna13951271166
António Amorim136147796519
Alexis Brice13587083466
Elias Campo13576185160
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Performance
Metrics
No. of papers from the Institution in previous years
YearPapers
2023206
2022854
20214,700
20204,480
20194,045
20183,634