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The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism for BRCA2 Mutations and the Fine Molecular Details of Tumorigenesis

Autor: Arpad Balind, Gábor Jaksa, Ernő Kiss, Peter Horvath, Márton Zsolt Enyedi, Éva Kriston-Pál, Lajos Haracska, Lajos Pintér, Éva Ezer, Farkas Sükösd, Alexandra Gráf

Publikováno v: Cancers
Volume 13
Issue 10
Cancers, Vol 13, Iss 2354, p 2354 (2021)

Germline mutations in the BRCA1 and BRCA2 genes are responsible for hereditary breast and ovarian cancer syndrome. Germline and somatic BRCA1/2 mutations may define therapeutic targets and refine cancer treatment options. However, routine BRCA diagno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcdfeaea709fdda37e2b42bc73581a7c
http://hdl.handle.net/10138/331901

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Akademický článek

Mapping local structural perturbations in the native state of stefin B (cystatin B) under amyloid forming conditions

Autor: Robert eParamore, Gareth J Morgan, Peter J Davis, Carrie-anne eSharma, Andrea M Hounslow, Ajda eTaler-Vercic, Eva eZerovnik, Jonathan P Waltho, Matthew J Cliff, Rosemary Ann Staniforth

Publikováno v: Frontiers in Molecular Neuroscience, Vol 5 (2012)

Unlike a number of amyloid-forming proteins, stefins, in particular stefin B (cystatin B) form amyloids under conditions where the native state predominates. In order to trigger oligomerization processes, the stability of the protein needs to be comp

Externí odkaz: https://doaj.org/article/6bfa0c62358d48808afeacdc922b5ef6

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Akademický článek

Pore formation by human stefin B in its native and oligomeric states and the consequent amyloid induced toxicity.

Autor: Gregor eAnderluh, Eva eZerovnik

Publikováno v: Frontiers in Molecular Neuroscience, Vol 5 (2012)

It is well documented that amyloid forming peptides and proteins interact with membranes and that this correlates with cytotoxicity. To introduce the theme we give a brief description of some amyloidogenic proteins and note their similarities with po

Externí odkaz: https://doaj.org/article/0dcd12abb8924e6c824243319c92c5d3

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Akademický článek

Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.

Autor: Mira ePolajnar, Slavko eČeru, Nataša eKopitar-Jerala, Eva eŽerovnik

Publikováno v: Frontiers in Molecular Neuroscience, Vol 5 (2012)

Epilepsies are characterised by abnormal electrophysiological activity of the brain. Among various types of inherited epilepsies different epilepsy syndromes, among them progressive myoclonus epilepsies with features of ataxia and neurodegeneration,

Externí odkaz: https://doaj.org/article/3e4f26e07f7e4fb5bb57d41006492558

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