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Lernsoftware und Onlineübungen für den DaF-Unterricht

Harald Gärber 한국독일어교육학회 2005 외국어로서의 독일어 Vol.16 No.-
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SQUIDs in biomagnetism: a roadmap towards improved healthcare

Kö,rber, Rainer,Storm, Jan-Hendrik,Seton, Hugh,Mä,kelä,, Jyrki P,Paetau, Ritva,Parkkonen, Lauri,Pfeiffer, Christoph,Riaz, Bushra,Schneiderman, Justin F,Dong, Hui,Hwang, Seong-min,You, Lixi IOP 2016 Superconductor science & technology Vol.29 No.11
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Globally, the demand for improved health care delivery while managing escalating costs is a major challenge. Measuring the biomagnetic fields that emanate from the human brain already impacts the treatment of epilepsy, brain tumours and other brain disorders. This roadmap explores how superconducting technologies are poised to impact health care. Biomagnetism is the study of magnetic fields of biological origin. Biomagnetic fields are typically very weak, often in the femtotesla range, making their measurement challenging. The earliest in vivo human measurements were made with room-temperature coils. In 1963, Baule and McFee (1963 Am. Heart J. <A HREF='http://dx.doi.org/10.1016/0002-8703(63)90075-9'> 55 95−6</A>) reported the magnetic field produced by electric currents in the heart (‘magnetocardiography’), and in 1968, Cohen (1968 Science <A HREF='http://dx.doi.org/10.1126/science.161.3843.784'> 161 784−6</A>) described the magnetic field generated by alpha-rhythm currents in the brain (‘magnetoencephalography’). Subsequently, in 1970, Cohen et al (1970 Appl. Phys. Lett. <A HREF='http://dx.doi.org/10.1063/1.1653195'> 16 278–80</A>) reported the recording of a magnetocardiogram using a Superconducting QUantum Interference Device (SQUID). Just two years later, in 1972, Cohen (1972 Science <A HREF='http://dx.doi.org/10.1126/science.175.4022.664'> 175 664–6</A>) described the use of a SQUID in magnetoencephalography. These last two papers set the scene for applications of SQUIDs in biomagnetism, the subject of this roadmap. The SQUID is a combination of two fundamental properties of superconductors. The first is flux quantization—the fact that the magnetic flux Φ in a closed superconducting loop is quantized in units of the magnetic flux quantum, Φ0 ≡ h/2e, ≈ 2.07 × 10−15 Tm2 (Deaver and Fairbank 1961 Phys. Rev. Lett. <A HREF='http://dx.doi.org/10.1103/PhysRevLett.7.43'> 7 43–6</A>, Doll R and Näbauer M 1961 Phys. Rev. Lett. <A HREF='http://dx.doi.org/10.1103/PhysRevLett.7.51'> 7 51–2</A>). Here, h is the Planck constant and e the elementary charge. The second property is the Josephson effect, predicted in 1962 by Josephson (1962 Phys. Lett. <A HREF='http://dx.doi.org/10.1016/0031-9163(62)91369-0'> 1 251–3</A>) and observed by Anderson and Rowell (1963 Phys. Rev. Lett. <A HREF='http://dx.doi.org/10.1103/PhysRevLett.10.230'> 10 230–2</A>) in 1963. The Josephson junction consists of two weakly coupled superconductors separated by a tunnel barrier or other weak link. A tiny electric current is able to flow between the superconductors as a supercurrent, without developing a voltage across them. At currents above the ‘critical current’ (maximum supercurrent), however, a voltage is developed. In 1964, Jaklevic et al (1964 Phys. Rev. Lett. <A HREF='http://dx.doi.org/10.1103/PhysRevLett.12.159'> 12 159–60</A>) observed quantum interference between two Josephson junctions connected in series on a superconducting loop, giving birth to the dc SQUID. The essential property of the SQUID is that a steady increase in the magnetic flux threading the loop causes the critical current to oscillate with a period of one flux quantum. In today’s SQUIDs, using conventional semiconductor readout electronics, one can typically detect a change in Φ corresponding to 10−6 Φ0 in one second. Although early practical SQUIDs were usually made from bulk superconductors, for example, niobium or Pb-Sn solder blobs, today’s devices are invariably made from thin superconducting films patterned with photolithography or even electron lithography. An extensive descri
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Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

Choi, Yo Jun,Halbritter, Jan,Braun, Daniela A.,Schueler, Markus,Schapiro, David,Rim, John Hoon,Nandadasa, Sumeda,Choi, Won-il,Widmeier, Eugen,Shril, Shirlee,Kö,rber, Friederike,Sethi, Sidharth K. Elsevier 2019 American journal of human genetics Vol.104 No.1
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Nephronophthisis-related ciliopathies (NPHP-RCs) are a group of inherited diseases that are associated with defects in primary cilium structure and function. To identify genes mutated in NPHP-RC, we performed homozygosity mapping and whole-exome sequencing for >100 individuals, some of whom were single affected individuals born to consanguineous parents and some of whom were siblings of indexes who were also affected by NPHP-RC. We then performed high-throughput exon sequencing in a worldwide cohort of 800 additional families affected by NPHP-RC. We identified two ADAMTS9 mutations (c.4575_4576del [p.Gln1525Hisfs∗60] and c.194C>G [p.Thr65Arg]) that appear to cause NPHP-RC. Although ADAMTS9 is known to be a secreted extracellular metalloproteinase, we found that ADAMTS9 localized near the basal bodies of primary cilia in the cytoplasm. Heterologously expressed wild-type ADAMTS9, in contrast to mutant proteins detected in individuals with NPHP-RC, localized to the vicinity of the basal body. Loss of ADAMTS9 resulted in shortened cilia and defective sonic hedgehog signaling. Knockout of Adamts9 in IMCD3 cells, followed by spheroid induction, resulted in defective lumen formation, which was rescued by an overexpression of wild-type, but not of mutant, ADAMTS9. Knockdown of adamts9 in zebrafish recapitulated NPHP-RC phenotypes, including renal cysts and hydrocephalus. These findings suggest that the identified mutations in ADAMTS9 cause NPHP-RC and that ADAMTS9 is required for the formation and function of primary cilia.