Genomes and Genes
Experts and Doctors on female in Tübingen, Baden Württemberg, Germany
Locale: Tübingen, Baden Württemberg, Germany
- Oliver K, Franceschetti S, Milligan C, Muona M, Mandelstam S, Canafoglia L, et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. Ann Neurol. 2017;81:677-689 pubmed publisher..1 subunit-containing channels, which would counter the loss of function observed for mutant channels, highlighting KCNC1 as a potential target for precision therapeutics. Ann Neurol 2017;81:677-689. ..
- Koukouikila Koussounda F, Jeyaraj S, Nguetse C, Nkonganyi C, Kokou K, Etoka Beka M, et al. Molecular surveillance of Plasmodium falciparum drug resistance in the Republic of Congo: four and nine years after the introduction of artemisinin-based combination therapy. Malar J. 2017;16:155 pubmed publisher..Taken together, this study could serve as the basis for epidemiological studies monitoring the distribution of molecular markers of artemisinin resistance in the Republic of Congo. ..
- Maczewsky J, Sikimic J, Bauer C, Krippeit Drews P, Wolke C, Lendeckel U, et al. The LXR Ligand T0901317 Acutely Inhibits Insulin Secretion by Affecting Mitochondrial Metabolism. Endocrinology. 2017;158:2145-2154 pubmed publisher..This observation questions the chronic use of T0901317 and limits the interpretation of results obtained under these experimental conditions. ..
- Zhang S, Zeng N, Alowayed N, Singh Y, Cheng A, Lang F, et al. Downregulation of endometrial mesenchymal marker SUSD2 causes cell senescence and cell death in endometrial carcinoma cells. PLoS ONE. 2017;12:e0183681 pubmed publisher..These findings suggest that SUSD2 counteracts senescence and cell death and is thus a potential chemotherapeutic target in human endometrial cancer. ..
- Jurjut O, Georgieva P, Busse L, Katzner S. Learning Enhances Sensory Processing in Mouse V1 before Improving Behavior. J Neurosci. 2017;37:6460-6474 pubmed publisher..These findings indicate that sensory and behavioral improvements can follow different time courses and point toward a key role of V1 at early stages in discrimination learning. ..
- Hariri A, Velaga S, Girach A, Ip M, Le P, Lam B, et al. Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia. Am J Ophthalmol. 2017;179:110-117 pubmed publisher..These variables would be potential anatomic outcome measures for CHM clinical trials and could be studied and tracked longitudinally in choroideremia. ..
- Buonocore A, Fracasso A, Melcher D. Pre-saccadic perception: Separate time courses for enhancement and spatial pooling at the saccade target. PLoS ONE. 2017;12:e0178902 pubmed publisher..We did not find strong evidence for un-crowding. Overall, our pattern of results was consistent with both an early, general enhancement at the saccade target and a later, peri-saccadic compression/pooling towards the saccade target. ..
- Ordelheide A, Böhm A, Kempe Teufel D, Wagner R, Machicao F, Heni M, et al. Common variation in the sodium/glucose cotransporter 2 gene SLC5A2 does neither affect fasting nor glucose-suppressed plasma glucagon concentrations. PLoS ONE. 2017;12:e0177148 pubmed publisher..Moreover, the reported nominal effects of individual SLC5A2 variants on fasting and post-challenge glucose levels may probably not be mediated by altered glucagon release. ..
- Scholz S, MÃ¶ller I, Reis H, SÃ¼ÃŸkind D, van de Nes J, Leonardelli S, et al. Frequent GNAQ, GNA11, and EIF1AX Mutations in Iris Melanoma. Invest Ophthalmol Vis Sci. 2017;58:3464-3470 pubmed publisher..Future studies will need to assess if screening mutation profiles in iris melanomas may be of diagnostic or prognostic value. ..
- Eigentler T, Leiter U, Häfner H, Garbe C, Rocken M, Breuninger H. Survival of Patients with Cutaneous Squamous Cell Carcinoma: Results of a Prospective Cohort Study. J Invest Dermatol. 2017;137:2309-2315 pubmed publisher..001). Using a cut-off for tumor thickness of 6 mm or greater, the presence of desmoplastic growth and immunosuppression identifies patients at high risk for tumor-specific death. ..
- de Zwaan M, Herpertz S, Zipfel S, Svaldi J, Friederich H, Schmidt F, et al. Effect of Internet-Based Guided Self-help vs Individual Face-to-Face Treatment on Full or Subsyndromal Binge Eating Disorder in Overweight or Obese Patients: The INTERBED Randomized Clinical Trial. JAMA Psychiatry. 2017;74:987-995 pubmed publisher..Although cognitive behavioral therapy (CBT) represents the criterion standard for treatment of binge eating disorder (BED), most individuals do not have access to this specialized treatment...
- Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, et al. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis. Epilepsia. 2017;58:1734-1741 pubmed publisher..Our results did not demonstrate any clear advantage of newer versus older AEDs. Our results provide useful insights into AED retention, efficacy, and ADR rates in patients with MTLE-HS. ..
- Moawia A, Shaheen R, Rasool S, Waseem S, Ewida N, Budde B, et al. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann Neurol. 2017;82:562-577 pubmed publisher..Our data corroborate the role of an impaired cytokinesis in the etiology of primary and syndromic microcephaly, as has been proposed by recent findings on CIT mutations. Ann Neurol 2017;82:562-577. ..
- Voigt Radloff S, de Werd M, Leonhart R, Boelen D, Olde Rikkert M, Fliessbach K, et al. Structured relearning of activities of daily living in dementia: the randomized controlled REDALI-DEM trial on errorless learning. Alzheimers Res Ther. 2017;9:22 pubmed publisher..Structured relearning improved the performance of activities of daily living. Improvements were maintained for 6 months. EL had no additional effect over TEL. German Register of Clinical Trials DRKS00003117 . Registered 31 May 2011. ..
- Both A, Krauter J, Damm F, Thol F, Göhring G, Heuser M, et al. The hypomorphic TERT A1062T variant is associated with increased treatment-related toxicity in acute myeloid leukemia. Ann Hematol. 2017;96:895-904 pubmed publisher..In conclusion, the TERT A1062T variant is an independent negative prognostic factor in younger patients with acute myeloid leukemia and seems to predispose those patients to treatment-related toxicity. ..
- Meyerhoff H, Gehrer N. Visuo-perceptual capabilities predict sensitivity for coinciding auditory and visual transients in multi-element displays. PLoS ONE. 2017;12:e0183723 pubmed publisher..The results also suggest that basic visuo-perceptual capabilities provide the basis for the subsequent integration of auditory and visual information. ..
- Hoan N, Van Tong H, Giang D, Cuong B, Toan N, Wedemeyer H, et al. SOCS3 genetic variants and promoter hypermethylation in patients with chronic hepatitis B. Oncotarget. 2017;8:17127-17139 pubmed publisher..0023). In conclusion, SOCS3 promoter variants are associated with HBV susceptibility and SOCS3 hypermethylation stimulates HCC development. ..
- Laakso M, Rosenstock J, Groop P, Barnett A, Gallwitz B, Hehnke U, et al. Treatment with the dipeptidyl peptidase-4 inhibitor linagliptin or placebo followed by glimepiride in patients with type 2 diabetes with moderate to severe renal impairment: a 52-week, randomized, double-blind clinical trial. Diabetes Care. 2015;38:e15-7 pubmed publisher
- Lucas Sandri T, Adukpo S, Giang D, Nguetse C, Antunes Andrade F, Tong H, et al. Geographical distribution of complement receptor type 1 variants and their associated disease risk. PLoS ONE. 2017;12:e0175973 pubmed publisher..The African populations included in this study might have a selective advantage conferred to immune genes involved in pathogen recognition and signaling, possibly contributing to disease susceptibility or resistance. ..
- Stellmann J, Krumbholz M, Friede T, Gahlen A, Borisow N, Fischer K, et al. Immunotherapies in neuromyelitis optica spectrum disorder: efficacy and predictors of response. J Neurol Neurosurg Psychiatry. 2017;88:639-647 pubmed publisher..5, 95% CI 1.0 to 2.4, p=0.065). Age, antibody status and possibly previous attacks predict further attacks in patients treated for NMOSD. Azathioprine and rituximab are superior to interferon-β. ..
- Werner R, Mönig I, Lünstedt R, Wünsch L, Thorns C, Reiz B, et al. New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. PLoS ONE. 2017;12:e0176720 pubmed publisher..Exome sequencing of the sibling's family revealed TBX2 as a possible modifier of gonadal development in patients with NR5A1 mutations. ..
- Stefanou M, Bischof F. Central and peripheral nervous system immune-mediated demyelinating disease after allogeneic hematopoietic stem cell transplantation. J Neuroimmunol. 2017;307:74-81 pubmed publisher..Usually, CPID exhibits a chronic, persisting disease course. Thus, clinical awareness is required, as early diagnosis and aggressive treatment may be prognostically advantageous. ..
- Perdikis D, Volhard J, Müller V, Kaulard K, Brick T, Wallraven C, et al. Brain synchronization during perception of facial emotional expressions with natural and unnatural dynamics. PLoS ONE. 2017;12:e0181225 pubmed publisher..We conclude that natural movement dynamics are essential for the perception of FEEs and the associated brain processes. ..
- Sahu I, Pelzl L, Sukkar B, Fakhri H, Al Maghout T, Cao H, et al. NFAT5-sensitive Orai1 expression and store-operated Ca2+ entry in megakaryocytes. FASEB J. 2017;31:3439-3448 pubmed publisher..Sahu, I., Pelzl, L., Sukkar, B., Fakhri, H., al-Maghout, T., Cao, H., Hauser, S., Gutti, R., Gawaz, M., Lang, F. NFAT5-sensitive Orai1 expression and store-operated Ca2+ entry in megakaryocytes. ..
- GlÃ¼ck S, Guey B, Gulen M, Wolter K, Kang T, Schmacke N, et al. Innate immune sensing of cytosolic chromatin fragments through cGAS promotes senescence. Nat Cell Biol. 2017;19:1061-1070 pubmed publisher..Our findings provide insights into the mechanisms underlying cellular senescence by establishing the cGAS-STING pathway as a crucial regulator of senescence and the SASP. ..
- Martin P, Winston G, Bartlett P, de Tisi J, Duncan J, Focke N. Voxel-based magnetic resonance image postprocessing in epilepsy. Epilepsia. 2017;58:1653-1664 pubmed publisher..Overall, structural postprocessing can be a useful tool in presurgical diagnostics, but the low specificity of some maps has to be taken into consideration. ..
- Messroghli D, Pickardt T, Fischer M, Opgen Rhein B, Papakostas K, Böcker D, et al. Toward evidence-based diagnosis of myocarditis in children and adolescents: Rationale, design, and first baseline data of MYKKE, a multicenter registry and study platform. Am Heart J. 2017;187:133-144 pubmed publisher..In the future, MYKKE might facilitate interventional substudies by providing an established collaborating network using common diagnostic approaches. ..
- Mueller K, Heinzmann D, Klingel K, Fallier Becker P, Kandolf R, Kilias A, et al. Histopathological and Immunological Characteristics of Tachycardia-Induced Cardiomyopathy. J Am Coll Cardiol. 2017;69:2160-2172 pubmed publisher..Thus, further prospective studies are warranted to characterize patients with TCM by endomyocardial biopsy more clearly. ..
- Brucker S, Frank L, Eisenbeis S, Henes M, Wallwiener D, Riess O, et al. Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome. Acta Obstet Gynecol Scand. 2017;96:1338-1346 pubmed publisher..Mutations of ESR1 and OXTR are associated with MRKHS. Thus, we consider these genes potential candidates associated with the manifestation of MRKHS. ..
- Junne F, Ziser K, Giel K, Schag K, Skoda E, Mack I, et al. Determinants of Perceived Stress in Individuals with Obesity: Exploring the Relationship of Potentially Obesity-Related Factors and Perceived Stress. Obes Facts. 2017;10:127-138 pubmed publisher..This study explores the research question of to what extent potentially obesity-related factors determine perceived stress in individuals with obesity...
- Takemura H, Pestilli F, Weiner K, Keliris G, Landi S, Sliwa J, et al. Occipital White Matter Tracts in Human and Macaque. Cereb Cortex. 2017;27:3346-3359 pubmed publisher..These similarities and differences between the occipital lobe tracts will be useful in establishing which circuitry in the macaque can serve as an accurate model for human visual cortex...
- Brambatti M, Matassini M, Adler E, Klingel K, Camici P, Ammirati E. Eosinophilic Myocarditis: Characteristics, Treatment, and Outcomes. J Am Coll Cardiol. 2017;70:2363-2375 pubmed publisher..Eosinophilic myocarditis (EM) is an acute life-threatening inflammatory disease of the heart. Neither large case series nor clinical trials on this specific myocarditis have been reported...
- Böhm A, Wagner R, Machicao F, Holst J, Gallwitz B, Stefan N, et al. DPP4 gene variation affects GLP-1 secretion, insulin secretion, and glucose tolerance in humans with high body adiposity. PLoS ONE. 2017;12:e0181880 pubmed publisher..Whether this SNP underlies the reported inter-individual variance in responsiveness to DPP-4 inhibitors, at least in subjects with high body fat content, remains to be shown. ..
- Kommoss S, Hartkopf A, Kramer B, Bunz A, Grevenkamp F, Kommoss F, et al. Disseminated tumor cells are not associated with established risk factors, L1CAM immunoreactivity and outcome in endometrial carcinoma. J Cancer Res Clin Oncol. 2017;143:2183-2188 pubmed publisher..DTC are detectable in almost one-fifth of endometrial carcinoma and occur less frequently with a MELF pattern of invasion. Further studies investigating the role of DTC in endometrial carcinoma are warranted. ..
- Lidzba K, De Haan B, Wilke M, KrÃ¤geloh Mann I, Staudt M. Lesion characteristics driving right-hemispheric language reorganization in congenital left-hemispheric brain damage. Brain Lang. 2017;173:1-9 pubmed publisher..Our data suggest that the integrity of this stream might be crucial for a normal left-lateralized language development. ..
- Walter J, Vogl M, Holderried M, Becker C, Brandes A, Sinner M, et al. Manual Compression versus Vascular Closing Device for Closing Access Puncture Site in Femoral Left-Heart Catheterization and Percutaneous Coronary Interventions: A Retrospective Cross-Sectional Comparison of Costs and Effects in Inpatient Care. Value Health. 2017;20:769-776 pubmed publisher..In interventional catheterization, VCDs significantly reduced unadjusted complication rates, as well as costs. A significant reduction in costs also supports their usage in diagnostic catheterization on a larger scale. ..
- Kosmidis P, Bonzheim I, Dufke C, Colak S, Hentrich T, SCHROEDER C, et al. Next generation sequencing of the clonal IGH rearrangement detects ongoing mutations and interfollicular trafficking in in situ follicular neoplasia. PLoS ONE. 2017;12:e0178503 pubmed publisher..Furthermore, we identified N-glycosylation motifs characteristic for FL in the CDR3 region. ..
- Schönbach E, Wolfson Y, Strauss R, Ibrahim M, Kong X, Munoz B, et al. Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7. JAMA Ophthalmol. 2017;135:696-703 pubmed publisher..These data suggest microperimetry testing provides a more comprehensive assessment of retinal function and will be an important outcome measure in future clinical trials. ..
- Aung T, Ozaki M, Lee M, Schlötzer Schrehardt U, Thorleifsson G, Mizoguchi T, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017;49:993-1004 pubmed publisher..3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology. ..
- Sahm F, Schrimpf D, Stichel D, Jones D, Hielscher T, Schefzyk S, et al. DNA methylation-based classification and grading system for meningioma: a multicentre, retrospective analysis. Lancet Oncol. 2017;18:682-694 pubmed publisher..German Cancer Aid, Else Kröner-Fresenius Foundation, and DKFZ/Heidelberg Institute of Personalized Oncology/Precision Oncology Program. ..
- Uslu U, Schuler G, Breuninger H. Factors Influencing Disease Progression in Patients with Head and Neck Melanoma. Anticancer Res. 2017;37:3811-3816 pubmed..001). In summary, tumor thickness is the most important prognostic factor. SLN dissection does not affect the overall survival of patients with melanoma. However, a positive SLN is a marker for a worse outcome in these patients. ..
- Dimopoulos M, Goldschmidt H, Niesvizky R, Joshua D, Chng W, Oriol A, et al. Carfilzomib or bortezomib in relapsed or refractory multiple myeloma (ENDEAVOR): an interim overall survival analysis of an open-label, randomised, phase 3 trial. Lancet Oncol. 2017;18:1327-1337 pubmed publisher..This study is informative for deciding which proteasome inhibitor to use for treating this disease. Onyx Pharmaceuticals Inc, an Amgen Inc subsidiary. ..
- Minnerop M, Kurzwelly D, Wagner H, Soehn A, Reichbauer J, Tao F, et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017;140:1561-1578 pubmed publisher..Furthermore, our results demonstrate that substantial progress in revealing the causes of Mendelian diseases can be made by exploring the non-coding sequences of the human genome. ..
- Njemanze P, Kranz M, Amend M, Hauser J, Wehrl H, Brust P. Gender differences in cerebral metabolism for color processing in mice: A PET/MRI Study. PLoS ONE. 2017;12:e0179919 pubmed publisher..This study of color processing in an animal model could be applied in the study of the role of gender differences in brain disease. ..
- Sippli K, Rieger M, Huettig F. GPs' and dentists' experiences and expectations of interprofessional collaboration: findings from a qualitative study in Germany. BMC Health Serv Res. 2017;17:179 pubmed publisher..These perceived knowledge deficits may be rooted in the separate education of dentists and GPs in Germany. Fostering interprofessional education is a promising way to improve cooperation between GPs and dentists in the long term. ..
- Seixas A, Loureiro J, Costa C, Ordóñez Ugalde A, Marcelino H, Oliveira C, et al. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. Am J Hum Genet. 2017;101:87-103 pubmed publisher..Together, these results establish an unstable repeat insertion in DAB1 as a cause of cerebellar degeneration; on the basis of the genetic and phenotypic evidence, we propose this mutation as the molecular basis for SCA37. ..