Institution
Charité
Healthcare•Berlin, Germany•
About: Charité is a healthcare organization based out in Berlin, Germany. It is known for research contribution in the topics: Population & Transplantation. The organization has 30624 authors who have published 64507 publications receiving 2437322 citations. The organization is also known as: Charite & Charité – University Medicine Berlin.
Topics: Population, Transplantation, Immune system, Heart failure, Cancer
Papers published on a yearly basis
Papers
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TL;DR: The heating technique using magnetic nanoparticles was feasible and Hyperthermic to thermoablative temperatures were achieved in the prostates at 25% of the available magnetic field strength, indicating a significant potential for higher temperatures.
458 citations
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TL;DR: A significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4 is identified and identified.
Abstract: Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the
understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried
by the true risk variants and the corresponding statistical power to observe such effects given the study design and
sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however,
these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15).
Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping
data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide
genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary
statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls).
Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription
factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social
skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia
which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P=9 ×10−6). We further
combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to
identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12
novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a
‘neurodevelopmental hub’ on chromosome 8p11.23.
Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common
variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia
and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
458 citations
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University of Lausanne1, Necker-Enfants Malades Hospital2, Great Ormond Street Hospital3, University of California, Los Angeles4, University of Antwerp5, Max Planck Society6, Charité7, Children's Medical Center of Dallas8, University of Melbourne9, Children's Hospital at Westmead10, Boston Children's Hospital11
TL;DR: The nosology can also serve as a reference for the creation of locus‐specific databases that are expected to help in delineating genotype–phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results.
Abstract: The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions. This is the 9th edition of the nosology and in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable but genetically heterogenous were listed separately but we felt this was an unnecessary distinction. Thus the overall number of disorders has decreased from 456 to 436 but the number of groups has increased to 42 and the number of genes to 364. The nosology may become increasingly important today and tomorrow in the era of big data when the question for the geneticist is often whether a mutation identified by next generation sequencing technology in a particular gene can explain the clinical and radiological phenotype of their patient. This can be particularly difficult to answer conclusively in the prenatal setting. Personalized medicine emphasizes the importance of tailoring diagnosis and therapy to the individual but for our patients with rare skeletal disorders, the importance of tapping into a resource where genetic data can be centralized and made available should not be forgotten or underestimated. The nosology can also serve as a reference for the creation of locus-specific databases that are expected to help in delineating genotype-phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results.
458 citations
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TL;DR: In this paper, the efficacy of acupuncture compared with minimal acupuncture and with no acupuncture in patients with chronic low back pain was investigated in 30 outpatient centers, where patients were randomized to treatment with acupuncture, minimal acupuncture (superficial needling at nonacupuncture points), or a waiting list control.
Abstract: BACKGROUND: Acupuncture is widely used by patients with low back pain, although its effectiveness is unclear. We investigated the efficacy of acupuncture compared with minimal acupuncture and with no acupuncture in patients with chronic low back pain. METHODS: Patients were randomized to treatment with acupuncture, minimal acupuncture (superficial needling at nonacupuncture points), or a waiting list control. Acupuncture and minimal acupuncture were administered by specialized acupuncture physicians in 30 outpatient centers, and consisted of 12 sessions per patient over 8 weeks. Patients completed standardized questionnaires at baseline and at 8, 26, and 52 weeks after randomization. The primary outcome variable was the change in low back pain intensity from baseline to the end of week 8, as determined on a visual analog scale (range, 0-100 mm). RESULTS: A total of 298 patients (67.8% female; mean +/- SD age, 59 +/- 9 years) were included. Between baseline and week 8, pain intensity decreased by a mean +/- SD of 28.7 +/- 30.3 mm in the acupuncture group, 23.6 +/- 31.0 mm in the minimal acupuncture group, and 6.9 +/- 22.0 mm in the waiting list group. The difference for the acupuncture vs minimal acupuncture group was 5.1 mm (95% confidence interval, -3.7 to 13.9 mm; P = .26), and the difference for the acupuncture vs waiting list group was 21.7 mm (95% confidence interval, 13.9-30.0 mm; P<.001). Also, at 26 (P=.96) and 52 (P=.61) weeks, pain did not differ significantly between the acupuncture and the minimal acupuncture groups. CONCLUSION: Acupuncture was more effective in improving pain than no acupuncture treatment in patients with chronic low back pain, whereas there were no significant differences between acupuncture and minimal acupuncture.
458 citations
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TL;DR: The metabolic rewiring of glycolysis can circumvent the normally lethal effects of oxygen deprivation, a mechanism that could be harnessed to minimize hypoxic damage in human disease.
Abstract: The African naked mole-rat’s (Heterocephalus glaber) social and subterranean lifestyle generates a hypoxic niche. Under experimental conditions, naked mole-rats tolerate hours of extreme hypoxia and survive 18 minutes of total oxygen deprivation (anoxia) without apparent injury. During anoxia, the naked mole-rat switches to anaerobic metabolism fueled by fructose, which is actively accumulated and metabolized to lactate in the brain. Global expression of the GLUT5 fructose transporter and high levels of ketohexokinase were identified as molecular signatures of fructose metabolism. Fructose-driven glycolytic respiration in naked mole-rat tissues avoids feedback inhibition of glycolysis via phosphofructokinase, supporting viability. The metabolic rewiring of glycolysis can circumvent the normally lethal effects of oxygen deprivation, a mechanism that could be harnessed to minimize hypoxic damage in human disease.
457 citations
Authors
Showing all 30787 results
Name | H-index | Papers | Citations |
---|---|---|---|
JoAnn E. Manson | 270 | 1819 | 258509 |
Yi Chen | 217 | 4342 | 293080 |
David J. Hunter | 213 | 1836 | 207050 |
Raymond J. Dolan | 196 | 919 | 138540 |
John P. A. Ioannidis | 185 | 1311 | 193612 |
Stefan Schreiber | 178 | 1233 | 138528 |
Kenneth C. Anderson | 178 | 1138 | 126072 |
Eric J. Nestler | 178 | 748 | 116947 |
Klaus Rajewsky | 154 | 504 | 88793 |
Charles B. Nemeroff | 149 | 979 | 90426 |
Andreas Pfeiffer | 149 | 1756 | 131080 |
Rinaldo Bellomo | 147 | 1714 | 120052 |
Jean Bousquet | 145 | 1288 | 96769 |
Christopher Hill | 144 | 1562 | 128098 |
Holger J. Schünemann | 141 | 810 | 113169 |