Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Markéta, Tesařová"'
Autor:
Lukáš Kunc, Petra Havránková, Matěj Škorvánek, Iva Příhodová, Kamila Poláková, Lenka Nosková, Markéta Tesařová, Tomáš Honzík, Michael Zech, Robert Jech
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 11, Iss , Pp 100267- (2024)
Externí odkaz:
https://doaj.org/article/74761bcad55c45dd811a8363ae1d45a7
Autor:
Tereza Rákosníková, Silvie Kelifová, Hana Štufková, Kateřina Lokvencová, Petra Lišková, Bohdan Kousal, Tomáš Honzík, Hana Hansíková, Václav Martínek, Markéta Tesařová
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Leber hereditary optic neuropathy is a primary mitochondrial disease characterized by acute visual loss due to the degeneration of retinal ganglion cells. In this study, we describe a patient carrying a rare missense heteroplasmic variant in MT-ND1,
Externí odkaz:
https://doaj.org/article/12ee8ca3d0004c67b8c245a36ed355c8
Autor:
Anna Čechová, Alice Baxová, Jiří Zeman, Lukáš Lambert, Tomáš Honzík, Alena Leiská, Václav Čunát, Markéta Tesařová
Publikováno v:
Prague Medical Report, Vol 120, Iss 4, Pp 124-130 (2019)
Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity. Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patien
Externí odkaz:
https://doaj.org/article/fadbd8b9e9f840a7bf283b91c98985be
Autor:
Glenda Evangelina Comai, Markéta Tesařová, Valérie Dupé, Muriel Rhinn, Pedro Vallecillo-García, Fabio da Silva, Betty Feret, Katherine Exelby, Pascal Dollé, Leif Carlsson, Brian Pryce, François Spitz, Sigmar Stricker, Tomáš Zikmund, Jozef Kaiser, James Briscoe, Andreas Schedl, Norbert B Ghyselinck, Ronen Schweitzer, Shahragim Tajbakhsh
Publikováno v:
PLoS Biology, Vol 18, Iss 11, p e3000902 (2020)
Coordinated development of muscles, tendons, and their attachment sites ensures emergence of functional musculoskeletal units that are adapted to diverse anatomical demands among different species. How these different tissues are patterned and functi
Externí odkaz:
https://doaj.org/article/7accca2f58eb48ea8737767ca272038f
Autor:
Markéta Tesařová, Lucia Mancini, Andras Simon, Igor Adameyko, Markéta Kaucká, Ahmed Elewa, Gabriele Lanzafame, Yi Zhang, Dominika Kalasová, Bára Szarowská, Tomáš Zikmund, Marie Novotná, Jozef Kaiser
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Abstract One of the greatest enigmas of modern biology is how the geometry of muscular and skeletal structures are created and how their development is controlled during growth and regeneration. Scaling and shaping of vertebrate muscles and skeletal
Externí odkaz:
https://doaj.org/article/470c1a0e0e47415aa4885626eb993803
Autor:
Tereza Daňhelovská, Lucie Zdražilová, Hana Štufková, Marie Vanišová, Nikol Volfová, Jana Křížová, Ondřej Kuda, Jana Sládková, Markéta Tesařová
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 14, p 7270 (2021)
The Acyl-CoA-binding domain-containing protein (ACBD3) plays multiple roles across the cell. Although generally associated with the Golgi apparatus, it operates also in mitochondria. In steroidogenic cells, ACBD3 is an important part of a multiprotei
Externí odkaz:
https://doaj.org/article/ca6e431bea6f4db38cc1eb29d127cd15
Autor:
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Publikováno v:
Prague Medical Report, Vol 118, Iss 2, Pp 87-94 (2017)
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In
Externí odkaz:
https://doaj.org/article/5655a4c08cc24399b0246fededc219b6
Autor:
Šárka Fingerhutová, Jana Fráňová, Eva Hlaváčková, Eva Jančová, Leona Procházková, Kamila Beránková, Markéta Tesařová, Eva Honsová, Pavla Doležalová
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Background: Muckle-Wells syndrome (MWS) represents a moderate phenotype of cryopyrinopathies. Sensorineural hearing loss and AA amyloidosis belong to the most severe manifestations of uncontrolled disease. Simultaneous discovery of MWS in four genera
Externí odkaz:
https://doaj.org/article/f30e800ddb004f289bfba7156a1f8406
Autor:
Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová, Tomáš Honzík
Publikováno v:
Brain Sciences, Vol 10, Iss 11, p 766 (2020)
Background: In this retrospective study, we analysed clinical, biochemical and molecular genetic data of 47 Czech patients with Single, Large-Scale Mitochondrial DNA Deletions (SLSMD). Methods: The diagnosis was based on the long-range PCR (LX-PCR) s
Externí odkaz:
https://doaj.org/article/5db9b81a11174564a65e194fbf95df6c
Autor:
Hana Štufková, Hana Kolářová, Kateřina Lokvencová, Tomáš Honzík, Jiří Zeman, Hana Hansíková, Markéta Tesařová
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1245
In this study, we report on a novel heteroplasmic pathogenic variant in mitochondrial DNA (mtDNA). The studied patient had myoclonus, epilepsy, muscle weakness, and hearing impairment and harbored a heteroplasmic m.8315A>C variant in the MTTK gene wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf613bfb668c0f02d6536f82813d0611