Project information
Searching and functional testing of gene variants predisposing to familial haematopoietic disorders

Information

This project doesn't include Faculty of Economics and Administration. It includes Central European Institute of Technology. Official project website can be found on muni.cz.

Project Identification

NU20-08-00137

Project Period

5/2020 - 12/2023

Investor / Pogramme / Project type

Ministry of Health of the CR

Ministry of Health Research Programme 2020 - 2026
Subprogram 1 - standard

MU Faculty or unit

Central European Institute of Technology

prof. MUDr. Michael Doubek, Ph.D.

Cooperating Organization

University Hospital Brno-Bohunice

Responsible person Ing. Zuzana Vrzalová, Ph.D.

Vyhledávání a funkční testování variant genů predisponujících k familiárním onemocněním krvetvorby

Sustainable Development Goals

Masaryk University is committed to the UN Sustainable Development Goals, which aim to improve the conditions and quality of life on our planet by 2030.

Publications

Total number of publications: 27

2023

Varianta v genu CYCS způsobující trombocytopenii 4 zvyšuje kaspázovou aktivitu.

ŠTIKA Jiří VRZALOVÁ Zuzana STAŇO KOZUBÍK Kateřina PEŠOVÁ Michaela PALUŠOVÁ Veronika DOSTÁLOVÁ Lenka BLAHÁKOVÁ Ivona RADOVÁ Lenka SEDLÁKOVÁ Petra SONNEK Radim ŠMÍDA Michal POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2023, type: Conference abstract

2022

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome

SKALNÍKOVÁ Magdalena STAŇO KOZUBÍK Kateřina TRIZULJAK Jakub VRZALOVÁ Zuzana RADOVÁ Lenka RÉBLOVÁ Kamila HOLBOVÁ Radka KURUCOVÁ Terézia SVOZILOVÁ Hana ŠTIKA Jiří BLAHÁKOVÁ Ivona DVOŘÁČKOVÁ Barbara PRUDKOVÁ Marie STEHLÍKOVÁ Olga ŠMÍDA Michal KŘEN Leoš SMEJKAL Petr POSPÍŠILOVÁ Šárka DOUBEK Michael

Article in Periodical

International Journal of Molecular Sciences, year: 2022, volume: 23, edition: 2, DOI
Analysis of ANKRD26 gene 5´UTR variant in a cohort of Czech patients with suspected hereditary hematological disorder

STAŇO KOZUBÍK Kateřina TRIZULJAK Jakub VRZALOVÁ Zuzana RADOVÁ Lenka BLAHÁKOVÁ Ivona ŠTIKA Jiří SMEJKAL Petr BERGEROVÁ Veronika HYNŠT Jakub POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2022, type: Conference abstract
Delece 22q12 u pacienta s bilaterálním schwannomem zachycená kombinací metod NGS, MLPA a array-CGH.

BLAHÁKOVÁ Ivona TRIZULJAK Jakub VRZALOVÁ Zuzana MEJSTŘÍKOVÁ Soňa DUBEN Jakub ŠTIKA Jiří STAŇO KOZUBÍK Kateřina DOUBEK Michael POSPÍŠILOVÁ Šárka

Conference abstract

Year: 2022, type: Conference abstract
Genetic background of leukemia in the context of clinical practice

DOUBEK Michael

Year: 2022, type:
Genetická diagnostika familiárních onemocnění krvetvorby a stanovení jejich funkčního dopadu.

VRZALOVÁ Zuzana ŠTIKA Jiří STAŇO KOZUBÍK Kateřina BLAHÁKOVÁ Ivona TRIZULJAK Jakub POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2022, type: Conference abstract
In-frame deletions and insertions in the TP53 gene identified in leukemia patients result in p53 protein inactivation.

MALČÍKOVÁ Jitka PAVLOVÁ Šárka GOMBÍKOVÁ Johana ŠMARDOVÁ Jana PLEVOVÁ Karla KOTAŠKOVÁ Jana DVOŘÁČKOVÁ Barbara ZAPLETALOVÁ Eva NAVRKALOVÁ Veronika DOUBEK Michael POSPÍŠILOVÁ Šárka

Conference abstract

Year: 2022, type: Conference abstract
Loss of heterozygosity inEIF3F gene leading to intellectual disability in two siblings

VRZALOVÁ Zuzana HŮRKOVÁ Věra STAŇO KOZUBÍK Kateřina PÁL Karol TRKOVÁ Marie ŠTIKA Jiří BLAHÁKOVÁ Ivona RADOVÁ Lenka TRIZULJAK Jakub POSPÍŠILOVÁ Šárka DOUBEK Michael

Conference abstract

Year: 2022, type: Conference abstract
Pathogenic germline variants of TP53 gene are rare in patients with chronic lymphocytic leukemia.

PAVLOVÁ Šárka MALČÍKOVÁ Jitka GOMBÍKOVÁ Johana ŠMARDOVÁ Jana PLEVOVÁ Karla KOTAŠKOVÁ Jana DVOŘÁČKOVÁ Barbara KUNT VONKOVÁ Barbara ZÁVACKÁ Kristýna NAVRKALOVÁ Veronika TRIZULJAK Jakub DOUBEK Michael POSPÍŠILOVÁ Šárka

Conference abstract

Year: 2022, type: Conference abstract
Very rare near-haploid acute lymphoblastic leukemia resistant to immunotherapy and CAR-T therapy in 19-year-old male patient

ARPÁŠ Tomáš JELÍNKOVÁ Hana HRABOVSKÝ Štěpán ORŠULOVÁ Martina VRZALOVÁ Zuzana NAVRKALOVÁ Veronika BRHELOVÁ Eva BRYJOVÁ Lenka BULIKOVÁ Alena ONDROUŠKOVÁ Eva ŠEJNOHOVÁ Markéta FOLBER František ŠEDOVÁ Petra MAYER Jiří POSPÍŠILOVÁ Šárka JAROŠOVÁ Marie DOUBEK Michael

Article in Periodical

CLINICAL CASE REPORTS, year: 2022, volume: 10, edition: 3, DOI