A Novel <i>MTTK</i> Gene Variant m.8315A>C as a Cause of MERRF Syndrome

by Hana Štufková, Hana Kolářová, Kateřina Lokvencová, Tomáš Honzík, Jiří Zeman, Hana Hansíková, Markéta Tesařová
Published 2022-07-01

Resolving complex cartilage structures in developmental biology via deep learning-based automatic segmentation of X-ray computed microtomography images

by Jan Matula, Veronika Polakova, Jakub Salplachta, Marketa Tesarova, Tomas Zikmund, Marketa Kaucka, Igor Adameyko, Jozef Kaiser
Published 2022-05-01

Microarray and qPCR Analysis of Mitochondrial Metabolism Activation during Prenatal and Early Postnatal Development in Rats and Humans with Emphasis on CoQ₁₀ Biosynthesi...

by Jana Krizova, Martina Hulkova, Vaclav Capek, Petr Mlejnek, Jan Silhavy, Marketa Tesarova, Jiri Zeman, Hana Hansikova
Published 2021-05-01

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene

by Anna Čechová, Alice Baxová, Jiří Zeman, Lukáš Lambert, Tomáš Honzík, Alena Leiská, Václav Čunát, Markéta Tesařová
Published 2019-01-01

Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells

by Tereza Daňhelovská, Lucie Zdražilová, Hana Štufková, Marie Vanišová, Nikol Volfová, Jana Křížová, Ondřej Kuda, Jana Sládková, Markéta Tesařová
Published 2021-07-01

Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease

by Šárka Fingerhutová, Jana Fráňová, Eva Hlaváčková, Eva Jančová, Leona Procházková, Kamila Beránková, Markéta Tesařová, Eva Honsová, Pavla Doležalová
Published 2019-04-01

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

by Tereza Rákosníková, Silvie Kelifová, Hana Štufková, Kateřina Lokvencová, Petra Lišková, Bohdan Kousal, Tomáš Honzík, Hana Hansíková, Václav Martínek, Markéta Tesařová
Published 2023-05-01

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

by Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Published 2017-09-01

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

by Tereza Danhelovska, Hana Kolarova, Jiri Zeman, Hana Hansikova, Manuela Vaneckova, Lukas Lambert, Vendula Kucerova-Vidrova, Kamila Berankova, Tomas Honzik, Marketa Tesarova
Published 2020-01-01

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a <i>TCF4</i> Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal D...

by Lubica Dudakova, Pavlina Skalicka, Alice E. Davidson, Amanda N. Sadan, Monika Chylova, Helena Jahnova, Nicole Anteneova, Marketa Tesarova, Tomas Honzik, Petra Liskova
Published 2021-11-01

Unique morphogenetic signatures define mammalian neck muscles and associated connective tissues

by Eglantine Heude, Marketa Tesarova, Elizabeth M Sefton, Estelle Jullian, Noritaka Adachi, Alexandre Grimaldi, Tomas Zikmund, Jozef Kaiser, Gabrielle Kardon, Robert G Kelly, Shahragim Tajbakhsh
Published 2018-11-01

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

by Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová, Tomáš Honzík
Published 2020-10-01

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

by Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
Published 2023-04-01

A quantitative analysis of 3D-cell distribution in regenerative muscle-skeletal system with synchrotron X-ray computed microtomography

by 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
Published 2018-09-01

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

by Jaka Sikonja, Jernej Brecelj, Mojca Zerjav Tansek, Barbka Repic Lampret, Ana Drole Torkar, Simona Klemencic, Neza Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovac, Barbara Faganel Kotnik, Marketa Tesarova, Ziga Iztok Remec, Marusa Debeljak, Tadej Battelino, Urh Groselj
Published 2022-03-01

Directionality of developing skeletal muscles is set by mechanical forces

by Kazunori Sunadome, Alek G. Erickson, Delf Kah, Ben Fabry, Csaba Adori, Polina Kameneva, Louis Faure, Shigeaki Kanatani, Marketa Kaucka, Ivar Dehnisch Ellström, Marketa Tesarova, Tomas Zikmund, Jozef Kaiser, Steven Edwards, Koichiro Maki, Taiji Adachi, Takuya Yamamoto, Kaj Fried, Igor Adameyko
Published 2023-05-01

Altered developmental programs and oriented cell divisions lead to bulky bones during salamander limb regeneration

by Marketa Kaucka, Alberto Joven Araus, Marketa Tesarova, Joshua D. Currie, Johan Boström, Michaela Kavkova, Julian Petersen, Zeyu Yao, Anass Bouchnita, Andreas Hellander, Tomas Zikmund, Ahmed Elewa, Phillip T. Newton, Ji-Feng Fei, Andrei S. Chagin, Kaj Fried, Elly M. Tanaka, Jozef Kaiser, András Simon, Igor Adameyko
Published 2022-11-01

Local retinoic acid signaling directs emergence of the extraocular muscle functional unit.

by 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
Published 2020-11-01

Signals from the brain and olfactory epithelium control shaping of the mammalian nasal capsule cartilage

by Marketa Kaucka, Julian Petersen, Marketa Tesarova, Bara Szarowska, Maria Eleni Kastriti, Meng Xie, Anna Kicheva, Karl Annusver, Maria Kasper, Orsolya Symmons, Leslie Pan, Francois Spitz, Jozef Kaiser, Maria Hovorakova, Tomas Zikmund, Kazunori Sunadome, Michael P Matise, Hui Wang, Ulrika Marklund, Hind Abdo, Patrik Ernfors, Pascal Maire, Maud Wurmser, Andrei S Chagin, Kaj Fried, Igor Adameyko
Published 2018-06-01

Serotonin limits generation of chromaffin cells during adrenal organ development

by Polina Kameneva, Victoria I. Melnikova, Maria Eleni Kastriti, Anastasia Kurtova, Emil Kryukov, Aliia Murtazina, Louis Faure, Irina Poverennaya, Artem V. Artemov, Tatiana S. Kalinina, Nikita V. Kudryashov, Michael Bader, Jan Skoda, Petr Chlapek, Lucie Curylova, Lukas Sourada, Jakub Neradil, Marketa Tesarova, Massimo Pasqualetti, Patricia Gaspar, Vasily D. Yakushov, Boris I. Sheftel, Tomas Zikmund, Jozef Kaiser, Kaj Fried, Natalia Alenina, Elena E. Voronezhskaya, Igor Adameyko
Published 2022-05-01