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Works (12)

Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs

Nucleic Acids Research
2024-06-10 | Journal article
DOI: 10.1093/nar/gkae147
Contributors: Michal Kramárek; Přemysl Souček; Kamila Réblová; Lucie Kajan Grodecká; Tomáš Freiberger
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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort

Journal of Clinical Immunology
2023-11 | Journal article
DOI: 10.1007/s10875-023-01565-w
Part of ISSN: 0271-9142
Part of ISSN: 1573-2592
Contributors: Hana Grombirikova; Viktor Bily; Premysl Soucek; Michal Kramarek; Roman Hakl; Lucie Ballonova; Barbora Ravcukova; Dita Ricna; Karolina Kozena; Lucie Kratochvilova et al.
Source: Self-asserted source
Přemysl Souček

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity

Frontiers in Genetics
2023-07-04 | Journal article
DOI: 10.3389/fgene.2023.1123914
Part of ISSN: 1664-8021
Contributors: Lucie Ballonová; Přemysl Souček; Peter Slanina; Kamila Réblová; Ondřej Zapletal; Marcela Vlková; Roman Hakl; Viktor Bíly; Hana Grombiříková; Eliška Svobodová et al.
Source: Self-asserted source
Přemysl Souček

PLAUR splicing pattern in hereditary angioedema patients’ monocytes and macrophages

Molecular Biology Reports
2023-06 | Journal article
DOI: 10.1007/s11033-023-08391-8
Contributors: Lucie Ballonová; Petra Kulíšková; Peter Slanina; Julie Štíchová; Marcela Vlková; Roman Hakl; Jiří Litzman; Přemysl Souček; Tomáš Freiberger
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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Genetics in Medicine
2022-02 | Journal article
DOI: 10.1016/j.gim.2021.09.012
Part of ISSN: 1098-3600
Contributors: Joana R. Chora; Michael A. Iacocca; Lukáš Tichý; Hannah Wand; C. Lisa Kurtz; Heather Zimmermann; Annette Leon; Maggie Williams; Steve E. Humphries; Amanda J. Hooper et al.
Source: Self-asserted source
Přemysl Souček

Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites

Cellular and Molecular Life Sciences
2021-11-01 | Journal article
DOI: 10.1007/s00018-021-03943-2
Contributors: Pavla Hujová; Přemysl Souček; Lenka Radová; Michal Kramárek; Tatiana Kováčová; Tomáš Freiberger
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Splicing Enhancers at Intron–Exon Borders Participate in Acceptor Splice Sites Recognition

International Journal of Molecular Sciences
2020-09-08 | Journal article
DOI: 10.3390/ijms21186553
Contributors: Tatiana Kováčová; Přemysl Souček; Pavla Hujová; Tomáš Freiberger; Lucie Grodecká
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Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

Journal of Clinical Immunology
2020-04 | Journal article
DOI: 10.1007/s10875-020-00753-2
Part of ISSN: 0271-9142
Part of ISSN: 1573-2592
Contributors: Pavla Hujová; Přemysl Souček; Lucie Grodecká; Hana Grombiříková; Barbora Ravčuková; Pavel Kuklínek; Roman Hakl; Jiří Litzman; Tomas Freiberger
Source: Self-asserted source
Přemysl Souček

High-throughput analysis revealed mutations’ diverging effects on SMN1 exon 7 splicing

RNA Biology
2019-10-03 | Journal article
DOI: 10.1080/15476286.2019.1630796
Contributors: Přemysl Souček; Kamila Réblová; Michal Kramárek; Lenka Radová; Tereza Grymová; Pavla Hujová; Tatiana Kováčová; Matej Lexa; Lucie Grodecká; Tomáš Freiberger
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Impact of acceptor splice site NAGTAG motif on exon recognition

Molecular Biology Reports
2019-06-06 | Journal article
DOI: 10.1007/s11033-019-04734-6
Contributors: Pavla Hujová; Lucie Grodecká; Přemysl Souček; Tomáš Freiberger
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Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period

Mediators of Inflammation
2019-05-19 | Journal article
DOI: 10.1155/2019/9515628
Contributors: Tereza Grymova; Marcela Vlkova; Premysl Soucek; Roman Hakl; Jana Nechvatalova; Peter Slanina; Julie Stichova; Jiri Litzman; Tomas Freiberger
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Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell–Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders

The Journal of Immunology
2019-01-01 | Journal article
DOI: 10.4049/jimmunol.1800102
Contributors: Marcela Vlkova; Zita Chovancova; Jana Nechvatalova; Ashley Nicole Connelly; Marcus Darrell Davis; Peter Slanina; Lucie Travnickova; Marek Litzman; Tereza Grymova; Premysl Soucek et al.
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