The role of mutations in COL6A3 in isolated dystonia

Lohmann, K.,Schlicht, F.,Svetel, M.,Hinrichs, F.,Zittel, S.,Graf, J.,Lohnau, T.,Schmidt, A.,Mir, P.,Krause, P. Springer Science + Business Media 2016 Journal of neurology: Zeitschrift für Neurolo Vol.263 No.4

<P>Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in Exons 41 and 42 of COL6A3 in 955 patients with isolated or combined dystonia or with another movement disorder with dystonic features. We identified nine heterozygous carriers of rare variants including five different missense mutations and an extremely rare synonymous variant. In these nine patients, we sequenced the remaining 41 coding exons of COL6A3 to test for a second mutation in the compound heterozygous state. In only one of them, a second rare variant was identified (Thr732Met + Pro3082Arg). Of note, this patient had been diagnosed with ParkinsonA ' s disease (with dystonic posturing) due to homozygous PINK1 mutations. The COL6A3 mutations clearly did not segregate with the disease in the four affected siblings of this family. Further, there was no indication for a disease-modifying effect of the COL6A3 mutations since disease severity or age at onset did not correlate with the number of COL6A3 mutated alleles in this family. In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question.</P>

The U.S.-EU Trade and Technology Council: A Velvet Glove of U.S. Economic Statecraft

Sascha Lohmann(사샤 로먼) 전략물자관리원 2022 TRADE&SECURITY 저널 Vol.- No.4

혁신 정책으로서의 공정 이용

Fred von Lohmann,조정욱 서울대학교 기술과법센터 2011 Law & technology Vol.7 No.3

점점 더 많은 소비자들이 아이팟, TiVo 등 사적복제 기술을 당연한 것으로 받아들이고 있다. 그러나 저작권법은 사적이고 비변형적인 복제에 대해 논리정연한 근거를 제공하지 않고 있고 저작권자들은 이와 관련된 사적 복제 기술을 경계하고 있거나 방해하고 있다. 하지만, 사적 복제를 포용할 수 있는 공정 이용 법리는 저작물의 가치를 높이는 보완 기술을 창출하는 데에 기여할 수 있다. 특히 사적 복제 기술이 파괴적 혁신에 해당하는 경우 저작권과 혁신 정책 모두에게 중요한 성과가 있었다. 그리고 이러한 사적 복제 기술로 인해 창출된 잉여가치가 소비자들에게 흘러들어갈 수 있는데, 이는 저작권법의 목적에도 부합한다. 그런데 이와 같은 기술 혁신이 저작권 보호와 갈등이 생길 수 있는데, 지속적인 시장 실패의 가능성 때문에 이를 사전 규제를 하기 보다는 사후 규제를 하는 것이 바람직하다. 이를 종합할 때, 이러한 기술 발전을 불안해하며 주시하기보다는, 혁신가들과 저작권 소유자들 모두 이러한 발전을 환영하고, 또 공정 이용 법리가 저작권 정책의 전체 목표와 합치하는 방식으로 혁신을 장려도록 하기 위해 함께 노력하기 시작해야 한다.

A Delay-Dependent Approach to Robust Filtering for LPV Systems with Discrete and Distributed Delays using PPDQ Functions

Hamid Reza Karimi,Boris Lohmann,Christof Buskens 대한전기학회 2007 International Journal of Control, Automation, and Vol.5 No.2

This paper presents a delay-dependent approach to robust filtering for linear parameter-varying (LPV) systems with discrete and distributed time-invariant delays in the states and outputs. It is assumed that the state-space matrices affinely depend on parameters that are measurable in real-time. Some new parameter-dependent delay-dependent stability conditions are established in terms of linear matrix inequalities (LMIs) such that the filtering process remains asymptotically stable and satisfies a prescribed H∞ performance level. Using polynomially parameter-dependent quadratic (PPDQ) functions and some Lagrange multiplier matrices, we establish the parameter-independent delay-dependent conditions with high precision under which the desired robust H∞ filters exist and derive the explicit expression of these filters. A numerical example is provided to demonstrate the validity of the proposed design approach.

A Proactive Nonlinear Disturbance Compensator for the Quarter Car

Johannes N. Strohm,Dominik Pech,Boris Lohmann 제어·로봇·시스템학회 2020 International Journal of Control, Automation, and Vol.18 No.8

A new Proactive Nonlinear Disturbance Compensator (PNDC) for vibration damping in a quarter car is presented. A Flatness Based Disturbance Compensator (FBDC) for a nonlinear quarter car model is derived that decouples the chassis acceleration completely from the known road disturbance. This leads to a high level of driving comfort but to a loss in driving safety. Therefore a Proactive Linear Disturbance Compensator (PLDC) is added. This controller uses knowledge of the future road disturbance to reach a compromise between driving safety and driving comfort. The sensitivity of the nonlinear, proactive disturbance compensator to varying parameters or measurement noise is examined in simulations, and the tuning of the design parameters is shown. Furthermore, results from experiments on the institute’s quarter car test stand are discussed. These have shown that the performance of the proposed method exceeds a linear quadratic regulator in simulations and experiments and that the driving comfort can be increased by more than fifty percent without a decrease in driving safety.

Adjuvant carboplatin and paclitaxel with “sandwich” method radiotherapy for stage III or IV endometrial cancer: long-term follow-up at a single- institution

Anu Chinnadurai,Daniel Breadner,Ziad Baloush,Ana Elisa Lohmann,Morgan Black,David D’Souza,Stephen Welch 대한부인종양학회 2024 Journal of Gynecologic Oncology Vol.35 No.2

Objective: To evaluate disease-free sur vival (DFS) and overall sur vival (OS) associated withadjuvant carboplatin and paclitaxel chemotherapy interposed with radiation for advancedendometrial cancer. Methods: This is a cohort study of adult women with stage III or IV endometrial cancertreated at a single institution, between April 2002 and October 2017. Tumor and treatmentcharacteristics were recorded. Treatment consisted of 4 cycles of intravenous paclitaxeland carboplatin ever y 3 weeks, followed by external beam radiotherapy to the pelvis (45–50Gy), and another 2 cycles of chemotherapy. One cohort of patients were prospectivelyenrolled from 2002 through 2006 and an additional cohort from 2007 to 2017, which wasretrospectively analyzed. Primar y endpoints for this study were DFS and OS rates which werecalculated using Cox regression models. Results: Eighty-two patients with a median age of 66.5 years (range, 35–83 years) wereincluded. Median follow-up was 46 months (range, 9–196 months). Most patients had stageIIIC disease (62.2%) and serous carcinoma histology (46.3%). Median OS was 146 monthsand median DFS was 71 months. A 5-year OS and DFS were 64.9% and 55.7%, respectively. Age >60 years subgroup was at a significantly higher risk of DFS event or death. Histologicalsubtype, location of positive nodes, and cancer stage (IIIa vs. higher stage) did not correlateto a higher risk of recurrence or death. Conclusion: Long term follow-up and a larger population confirm that the chemoradiotherapysandwich method yields favorable outcomes in patients with high-risk endometrial cancer.

Epigenetic reprogramming by histone acetyltransferase HAG1/AtGCN5 is required for pluripotency acquisition in <i>Arabidopsis</i>

Kim, Ji‐,Yun,Yang, Woorim,Forner, Joachim,Lohmann, Jan U,Noh, Bosl,Noh, Yoo‐,Sun EMBO 2018 The EMBO journal Vol.37 No.20

Association of <i>SNCA</i> variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease

Chung, Sun Ju,Kö,nig, Inke R.,Lohmann, Katja,Hinrichs, Frauke,Kim, Juyeon,Ryu, Ho-Sung,Lee, Hyo Jeong,Kim, Kiju,Lee, Jeong Hoon,Jung, Kee Wook,Kim, Mi Jung,Kim, Mi-Jung,Kim, Young Jin,Yun, Sung-Ch Elsevier 2019 Parkinsonism & related disorders Vol.61 No.-

<P><B>Abstract</B></P> <P><B>Background</B></P> <P>Alpha-synuclein (α-Syn) immunostaining in the enteric nervous system (ENS) has been investigated to determine the role of diagnostic biomarker of Parkinson's disease (PD). However, determining factors for alpha-synuclein (α-Syn) deposition in the ENS of humans are still unclear. We aimed to investigate a possible association between <I>SNCA</I> variants and the presence of α-Syn immunostaining in the ENS in patients with PD and healthy individuals.</P> <P><B>Methods</B></P> <P>The study subjects consisted of 38 patients with PD and 46 healthy individuals. α-Syn immunohistochemistry was performed for gastric and colonic mucosal tissues of patients with PD and controls. Mucosal biopsy tissues of the ENS were obtained using standard biopsy forceps by endoscopic gastroduodenoscopy or colonoscopy. Two variants within the <I>SNCA</I> gene (the single nucleotide polymorphism [SNP] rs11931074 and the microsatellite REP1) were genotyped.</P> <P><B>Results</B></P> <P>In patients with PD, the rs11931074 (G allele) was significantly associated with the presence of α-Syn immunostaining in the ENS (OR = 5.96, 95% CI = 1.70–20.97, <I>P</I> = 0.01). In an interaction analysis, SNP rs11931074–PD status interaction was significantly associated with positive α-Syn immunostaining in the ENS (OR = 7.33, 95% CI = 1.58–33.88, <I>P</I> = 0.01). Longer <I>SNCA</I> REP1 alleles were not associated with positive α-Syn immunostaining in the ENS.</P> <P><B>Conclusion</B></P> <P>This exploratory study demonstrated that α-Syn deposition in the ENS may be associated with <I>SNCA</I> variants in patients with PD.</P> <P><B>Highlights</B></P> <P> <UL> <LI> Determining factors for alpha-synuclein (α-Syn) deposition in the enteric nervous system (ENS) of humans are still unclear. </LI> <LI> <I>SNCA</I> rs11931074 (G allele) is associated with α-Syn immunostaining in the ENS in patients with Parkinson's disease (PD). </LI> <LI> α-Syn deposition in the ENS may be associated with <I>SNCA</I> variants in patients with PD. </LI> </UL> </P>

Behavioral evidence for geomagnetic imprinting and transgenerational inheritance in fruit flies

Oh, In-Taek,Kwon, Hye-Jin,Kim, Soo-Chan,Kim, Hyung-Jun,Lohmann, Kenneth J.,Chae, Kwon-Seok National Academy of Sciences 2020 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF Vol.117 No.2

<P><B>Significance</B></P><P>Although migratory animals, such as salmon and sea turtles, are thought to imprint on their natal magnetic field and use this information to return as adults, direct experimental evidence thereof remains elusive. This study experimentally demonstrates that organisms can imprint a magnetic field and that this imprinting can be inherited by their progeny. Prenatal exposure to a specific geographic magnetic field during development affected adult responses to the matching field gradient through downward movements associated with foraging. This same behavior occurred spontaneously in the progeny of the next generation. These results suggest that imprinting on the magnetic field of a natal area assists magnetoreceptive organisms and their offspring in recognizing locations favorable for foraging and reproduction.</P><P>Certain long-distance migratory animals, such as salmon and sea turtles, are thought to imprint on the magnetic field of their natal area and to use this information to help them return as adults. Despite a growing body of indirect support for such imprinting, direct experimental evidence thereof remains elusive. Here, using the fruit fly as a magnetoreceptive model organism, we demonstrate that exposure to a specific geographic magnetic field during a critical period of early development affected responses to a matching magnetic field gradient later in life. Specifically, hungry flies that had imprinted on a specific magnetic field from 1 of 3 widely separated geographic locations responded to the imprinted field, but not other magnetic fields, by moving downward, a geotactic behavior associated with foraging. This same behavior occurred spontaneously in the progeny of the next generation: female progeny moved downward in response to the field on which their parents had imprinted, whereas male progeny did so only in the presence of these females. These results represent experimental evidence that organisms can learn and remember a magnetic field to which they were exposed during a critical period of development. Although the function of the behavior is not known, one possibility is that imprinting on the magnetic field of a natal area assists flies and their offspring in recognizing locations likely to be favorable for foraging and reproduction.</P>

Levels of persistent organic pollutants in air in China and over the Yellow Sea

Lammel, G.,Ghim, Y.S.,Grados, A.,Gao, H.,Huhnerfuss, H.,Lohmann, R. Pergamon Press ; Elsevier [distribution] 2007 Atmospheric environment Vol.41 No.3

The occurrence of persistent toxic substances (PTS) in China and possibly their regional transport in the Yellow and East China Seas region was studied. Organochlorines in atmospheric gas-phase and particulate matter were collected by high-volume sampling (filters and polyurethane foams) during 2 weeks in June 2003 (dry season) simultaneously at a Yellow Sea coastal site in an urban area, Qingdao, China, and a rural island site, Gosan, Jeju Island, Korea. Using GC methods, the samples were analysed for 9 persistent organic pollutants (POPs) regulated under the global POP convention, namely aldrin, chlordane (cis- and trans-isomers CC and TC), DDT and metabolites (o,p'-DDT, p,p'-DDD, and p,p'-DDE), dieldrin, endrin, heptachlor, hexachlorobenzene (HCB), mirex and PCB (congeners number 28, 52, 101, 153 and 180), and for hexachlorocyclohexane (α-, β- and γ-isomers), a PTS and now considered for regulation under the convention, too. At the coastal site additionally o,p'-DDE and -DDD, β-endosulfan, isodrin, heptachlorepoxide and δ-HCH, and at the island site additionally p,p'-DDT and 12 additional PCB congeners were analysed. 9 samples were collected at the coastal and 15 (for PCBs 5) at the island site. Long-range advection pathways were determined based on analysed back-trajectory calculations. The mean concentrations of DDT and its metabolites, HCB, HCH, and PCB at the coast were in the 100-1000pgm<SUP>-3</SUP> range. Higher concentrations prevailed during nighttime. The levels were in general lower at the island site, but not for DDT. Local sources are likely. PCBs were even 2 orders of magnitude lower, suggesting that PCBs are not subject to regional transport but elevated concentrations in air are limited to the source areas. Organochlorine pesticide levels on the other hand were seemingly determined by regional transport over Mainland China rather than by emissions in the coastal area. The currently used pesticides mirex and chlordane were found at elevated levels, i.e. 79 (6.6-255) and 36 (<6-71) pgm<SUP>-3</SUP>, respectively, at the coast but not over the island. The POPs pesticides aldrin, dieldrin and endrin, never registered in China, were mostly found at <10pgm<SUP>-3</SUP> except for endrin at the coastal site (up to 400pgm<SUP>-3</SUP>) and aldrin at the island site (up to 50pgm<SUP>-3</SUP>).