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Akademický článek

Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ familiesResearch in context

Autor: Karen L. Oliver, Ingrid E. Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Zaid Afawi, Dina Amrom, Eva Andermann, Jocelyn F. Bautista, Susannah T. Bellows, Judith Bluvstein, Gregory D. Cascino, Seo-Kyung Chung, Patrick Cossette, Sarah W. Curtis, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, Micheline Gravel, Rebekah V. Harris, Erin L. Heinzen, Olivia J. Henry, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rebecca Loeb, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Paul V. Motika, Terence J. O'Brien, Ruth Ottman, Juliann M. Paolicchi, Slave Petrovski, William O. Pickrell, Mark I. Rees, Lynette G. Sadleir, Jerry J. Shih, Rani K. Singh, Michael C. Smith, Philip E.M. Smith, Rhys H. Thomas, Judith Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer

Publikováno v: EBioMedicine, Vol 109, Iss , Pp 105404- (2024)

Summary: Background: Phenotypic variability within families with epilepsy is often observed, even when relatives share the same monogenic cause. We aimed to investigate whether common polygenic risk for epilepsy could explain the penetrance and pheno

Externí odkaz: https://doaj.org/article/0d0f5424442d4240b5c116f34ead7cf1

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Akademický článek

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Akademický článek

How 'digital' is the new Serbian Law on Digital Assets?

Autor: Motika Željka

Publikováno v: Pravni Zapisi, Vol 13, Iss 1, Pp 93-112 (2022)

The paper focuses on the legislative changes from 2021 that the Law on Digital Assets introduced into the legal system of the Republic of Serbia and contextualizes the amendments from the perspective of existing practice. Introductory part evaluates

Externí odkaz: https://doaj.org/article/1c9e6a60a3f24413a03681fbdce8790a

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Akademický článek

Role of mutations and post-translational modifications in systemic AL amyloidosis studied by cryo-EM

Autor: Lynn Radamaker, Sara Karimi-Farsijani, Giada Andreotti, Julian Baur, Matthias Neumann, Sarah Schreiner, Natalie Berghaus, Raoul Motika, Christian Haupt, Paul Walther, Volker Schmidt, Stefanie Huhn, Ute Hegenbart, Stefan O. Schönland, Sebastian Wiese, Clarissa Read, Matthias Schmidt, Marcus Fändrich

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)

Systemic AL amyloidosis is caused by misfolding of immunoglobulin light chains (LCs) but how post-translational modifications (PTMs) of LCs influence amyloid formation is not well understood. Here, the authors present the cryo-EM structure of an AL a

Externí odkaz: https://doaj.org/article/0c01463d3d2340dc9ac1ed41d176f4a7

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Akademický článek

Dysfunction of the key ferroptosis-surveilling systems hypersensitizes mice to tubular necrosis during acute kidney injury

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)

Necroptosis, a form of cell death, occurs in acute renal injury. Here, the authors show that ferroptosis—a form of cell death dependent on iron - also occurs during acute kidney injury, and show that an inhibitor of ferroptosis can improve survival

Externí odkaz: https://doaj.org/article/1e6956b0bc82403cacae878852daffc3

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