Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maria Giertlova"'
Autor:
Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants in the survival of motor neuron 1 gene (SMN1). SMN1 is located in a duplicated
Externí odkaz:
https://doaj.org/article/0b379a1de883407db431fdd402fb9fb5
Autor:
Simona Drobnakova, Veronika Vargova, Jana Smolova, Petra Drencakova, Maria Giertlova, Maria Pisarcikova, László Barkai
Publikováno v:
Respiratory Medicine Case Reports, Vol 50, Iss , Pp 102034- (2024)
Pathogenic variants of SP-C, which cause various lung diseases with varying ages of onset, are inherited in an autosomal dominant manner or appear de novo as new mutations. We present a case of fatal respiratory failure in a female infant. Genetic an
Externí odkaz:
https://doaj.org/article/b7e60a4072d045c3974332ecf36c3bf5
Autor:
Alica Baxova, Tomas Honzik, Jiri Zeman, Maria Giertlova, Maria Knapkova, Gabriel Minarik, Marketa Tesarova, Simona Rusnakova, Viktor Stranecky, Jana Lastuvkova, Vanda Chovanova, Martin Magner, Stella Mazurova, Hana Hansikova
Publikováno v:
The Journal of Dermatology. 47:663-668
Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339b6fb59b120fea0c27e03db28d5a1c
https://doi.org/10.1111/1346-8138.15317
https://doi.org/10.1111/1346-8138.15317
Autor:
Tomáš Guman, Marek Šarišský, Petr Gál, Miroslava Kičová, Juliana Gabzdilová, Dominika Veselinyová, Maria Giertlova, Zuzana Michalová, Martina Hajikova, Kinga Dedinská, Matúš Čoma
Publikováno v:
Anticancer Research. 39:2805-2810
BACKGROUND/AIM Galectins belong to the family of galactose-binding proteins known to play an important role in the processes of cell proliferation, differentiation, migration and neoplastic progression. Herein, we studied the expression of galectin-3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002aad5dd398e0db1c7c68b617eff451
https://doi.org/10.21873/anticanres.13408
https://doi.org/10.21873/anticanres.13408
Publikováno v:
Leukemia & Lymphoma. 58:1726-1729
Chronic lymphocytic leukemia (CLL) is a neoplastic disorder characterized by the clonal expansion of malignant B cells which accumulate in the bone marrow and peripheral blood. CLL B cells are stro...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cea41ae72b435f74bd2ad9b98dc387c
https://doi.org/10.1080/10428194.2016.1251593
https://doi.org/10.1080/10428194.2016.1251593