Alexander Pott  Saskia Jck  Christiane Schweizer  Michael Baumhardt  Tilman Stephan  Manuel Rattka  Karolina Weinmann  Carlo Bothner  Dominik Scharnbeck  Mirjam Keßler  Wolfgang Rottbauer  Tillman Dahme 《ESC Heart Failure》2020,7(5):2258-2267

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Nils Wetzstein  Thomas A. Kohl  Tilman G. Schultze  S?nke Andres  Carla Bellinghausen  Christian Hügel  Volkhard A. J. Kempf  Annette Lehn  Michael Hogardt  Hubert Serve  Maria J. G. T. Vehreschild  Timo Wolf  Stefan Niemann  Florian P. Maurer  Thomas A. Wichelhaus 《Journal of clinical microbiology》2020,58(12)

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Alexandra Kitzenmaier  Natascha Schaefer  Vikram Babu Kasaragod  Tilman Polster  Ralph Hantschmann  Hermann Schindelin  Carmen Villmann 《The European journal of neuroscience》2019,50(12):3906-3920

Glycine transporter 2 (GlyT2) mutations across the entire sequence have been shown to represent the presynaptic component of the neurological disease hyperekplexia. Dominant, recessive and compound heterozygous mutations have been identified, most of them leading to impaired glycine uptake. Here, we identified a novel loss of function mutation of the GlyT2 resulting from an amino acid exchange of proline 429 to leucine in a family with both parents being heterozygous carriers. A homozygous child suffered from severe neuromotor deficits. We characterised the GlyT2^P429L variant at the molecular, cellular and protein level. Functionality was determined by glycine uptake assays. Homology modelling revealed that the mutation localises to α‐helix 5, presumably disrupting the integrity of this α‐helix. GlyT2^P429L shows protein trafficking through various intracellular compartments to the cellular surface. However, the protein expression at the whole cell level was significantly reduced. Although present at the cellular surface, GlyT2^P429L demonstrated a loss of protein function. Coexpression of the mutant with the wild‐type protein, reflecting the situation in the parents, did not affect transporter function, thus explaining their non‐symptomatic phenotype. Nevertheless, when the mutant was expressed in excess compared with the wild‐type protein, glycine uptake was significantly reduced. Thus, these data demonstrate that the proline residue at position 429 is structurally important for the correct formation of α‐helix 5. The failure in functionality of the mutated GlyT2 is most probably due to structural changes localised in close proximity to the sodium‐binding site of the transporter.  相似文献   

    

Katharina B. Reinisch  Grzegorz Zuk  Dimitri A. Raptis  Marco Bueter  Merlin Guggenheim  Tilman Stasch  Adrian F. Palma 《International wound journal》2019,16(4):916-924

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Gesine Knobloch  Timothy Colgan  Mark L. Schiebler  Kevin M. Johnson  Geng Li  Tilman Schubert  Scott B. Reeder  Scott K. Nagle 《Magnetic resonance in medicine》2019,82(5):1660-1670

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Laura Rottner  Christine Lemes  Inge Dotz  Peter Wohlmuth  Tobias Schmidt  Shibu Mathew  Christian‐H. Heeger  Bruno Reissmann  Thomas Fink  Andreas Rillig  Christian Frerker  Feifan Ouyang  Karl‐Heinz Kuck  Andreas Metzner  Tilman Maurer 《Journal of cardiovascular electrophysiology》2019,30(8):1207-1214

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Tilman T Rau  William Cross  Ricardo R Lastra  Regina C-L Lo  Andres Matoso  C Simon Herrington 《The Journal of Pathology: Clinical Research》2024,10(2):e12366

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Naotaka Hashiguchi MD  Cheng-Hung Chiang MD  Laura Rottner MD  Bruno Reißmann MD  Andreas Rillig MD  Tilman Maurer MD  Christine Lemes MD  Karl-Heinz Kuck MD  Feifan Ouyang MD  Shibu Mathew MD 《Pacing and clinical electrophysiology : PACE》2023,46(1):11-19

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Thilo Kalbhenn  Thomas Cloppenborg  Friedrich G. Woermann  Anne Hagemann  Tilman Polster  Roland Coras  Ingmar Blümcke  Christian G. Bien  Matthias Simon 《Epilepsia》2023,64(7):1800-1811

Objective

Completeness as a predictor of seizure freedom is broadly accepted in epilepsy surgery. We focused on the requirements for a complete hemispherotomy and hypothesized that the disconnection of the insula contributes to a favorable postoperative seizure outcome. We analyzed surgical and nonsurgical predictors influencing long-term seizure outcome before and after a modification of our hemispherotomy technique.

Methods

We retrospectively studied surgical procedures, electroclinical parameters, magnetic resonance imaging (MRI) results, and follow-up data in all children who had undergone hemispherotomy between 2001 and 2018 at our institution. We used logistic regression models to analyze the influence of different factors on seizure outcome.

Results

A total of 152 patients were eligible for seizure outcome analysis only. Of these, 140 cases had complete follow-up data for ≥24 months and provide the basis for the following results. The median age at surgery was 4.3 years (range = .3–17.9 years). Complete disconnection (including the insular tissue) was achieved in 63.6% (89/140). At 2-year follow-up, seizure freedom (Engel class IA) was observed in 34.8% (8/23) with incomplete insular disconnection, whereas this was achieved in 88.8% (79/89) with complete surgical disconnection (p < .001, odds ratio [OR] = 10.41). In the latter group (n = 89), a potentially epileptogenic contralateral MRI lesion was the strongest predictor for postoperative seizure recurrence (OR = 22.20).

Significance

Complete surgical disconnection is the most important predictor of seizure freedom following hemispherotomy and requires disconnection of the insular tissue at the basal ganglia level. Even if the hemispherotomy is performed surgically completely, a potentially epileptogenic contralateral lesion on preoperative MRI significantly reduces the chances of postoperative seizure freedom.  相似文献   

    

Tilman Lingscheid  Martina Kinzig  Anne Krüger  Nils Müller  Georg Blke  Pinkus Tober-Lau  Friederike Münn  Helene Kriedemann  Martin Witzenrath  Leif E. Sander  Fritz Srgel  Florian Kurth 《Antimicrobial agents and chemotherapy》2022,66(11)

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