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16.06.2020

Nucleosome-CHD4 chromatin remodeler structure maps human disease mutations

Authors Farnung L, Ochmann M, Cramer P Journal Elife Citation Elife. 2020;9:e56178. Published 2020 Jun 16. Abstract Chromatin remodeling plays important roles in gene regulation during development, differentiation and in disease. The chromatin remodeling enzyme CHD4 is a component of the NuRD and ChAHP complexes that are involved in gene
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16.06.2020

Large field-of-view scanning small-angle X-ray scattering of mammalian cells

Authors Cassini C, Wittmeier A, Brehm G, Denz M, Burghammer M, Köster S Journal Journal of Synchrotron Radiation Citation J. Synchrotron Rad. (2020). 27, 1059–1068. Abstract X-ray imaging is a complementary method to electron and fluorescence microscopy for studying biological cells. In particular, scanning small-angle X-ray scattering provides overview images of whole cells
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08.06.2020

Bi-allelic Missense Disease-Causing Variants in RPL3L Associate Neonatal Dilated Cardiomyopathy With Muscle-Specific Ribosome Biogenesis

Authors Ganapathi M, Argyriou L, Martínez-Azorín F,  Morlot S, Yigit G, Lee TM,  Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B Journal Human Genetics Citation Hum Genet. 2020 Jun 8. Online ahead of print. Abstract Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly characterized by
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02.06.2020

The essential histogram

Authors Li H, Munk A, Sieling H, Walther G Journal Biometrika Citation Biometrika (2020), 107, 2, pp. 347–364 Abstract The histogram is widely used as a simple, exploratory way of displaying data, but it is usually not clear how to choose the number and size of the bins. We construct
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01.06.2020

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Authors Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmuller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, … Wollnik B, et al. Journal European Journal of Human Genetics Citation Eur J Hum
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27.05.2020

Hearing restoration by a low-weight power-efficient multichannel optogenetic cochlear implant system

Authors Jablonski L, Harczos T, Wolf B, Hoch G, Dieter A, Hessler R, Ayub S, Ruther P, Moser T Journal bioRxiv Citation bioRxiv 2020.05.25.114868. Abstract In case of deafness, cochlear implants bypass dysfunctional or lost hair cells by direct electrical stimulation (eCIs) of the auditory nerve. However, spectral selectivity of
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19.05.2020

19th Annual Meeting of the Safety Pharmacology Society: Regulatory and Safety Perspectives for Advanced Therapy Medicinal Products (Cellular and Gene Therapy Products)

Authors Cavero I, Seimetz D, Koziel D, Zimmermann WH, Holzgrefe HH Journal Expert Opinion Drug Safety Citation Expert Opin Drug Saf. 2020 May;19(5):553-558. Abstract This report summarizes and discusses talks delivered at an educational course offered during the 2019 Annual Meeting of the Safety Pharmacology Society on advanced therapy medicinal
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19.05.2020

Tomographic STED microscopy

Authors Krüger JR, Keller-Findeisen J, Geisler C, Egner A Journal Biomedical Optics Express Citation Biomed. Opt. Express 11, 3139-3163 (2020). Abstract Stimulated emission depletion (STED) microscopy is a versatile imaging method with diffraction-unlimited resolution. Here, we present a novel STED microscopy variant that achieves either increased resolution at equal laser
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18.05.2020

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Authors Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmuller J, Nurnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S Journal Human Genetics Citation Hum Genet. Online ahead of print Abstract We report truncating de novo variants in specific exons of
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06.05.2020

Vesicle adhesion in the electrostatic strong- coupling regime studied by time-resolved small-angle X-ray scattering

Authors Komorowski K, Schaeper J, Sztucki M, Sharpnack L, Brehm G, Köster S, Salditt T Journal Soft Matter Citation Soft Matter. 2020 May 6;16(17):4142-4154. Abstract We have used time-resolved small-angle X-ray scattering (SAXS) to study the adhesion of lipid vesicles in the electrostatic strong-coupling regime induced by divalent ions. The
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