Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene.

Autor: Markocsy A; National Centre for Hereditary Angioedema, Clinic of Children and Adolescents, Clinics of Pulmonology and Phthisiology, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia., Hrubiskova K; Centre for Hereditary Angioedema, 5th Clinic of Internal Medicine, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Bratislava, Slovakia., Hrubisko M; Department of Clinical Immunology and Allergology, St. Elisabeth Cancer Institute in Bratislava, Slovakia., Freiberger T; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic., Grombirikova H; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic., Dolesova L; Department of Medical Genetics, St. Elisabeth Cancer Institute in Bratislava, Slovakia., Slivka Vavrova L; Department of Medical Genetics, St. Elisabeth Cancer Institute in Bratislava, Slovakia., Lohajova Behulova R; Department of Medical Genetics, St. Elisabeth Cancer Institute in Bratislava, Slovakia., Ondrusova M; Pharm-In, Ltd., Bratislava, Slovakia.; Faculty of Public Health, Slovak Medical University, Bratislava, Slovakia., Banovcin P; National Centre for Hereditary Angioedema, Clinic of Children and Adolescents, Clinics of Pulmonology and Phthisiology, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia., Vorcakova K; Clinic of Dermatovenerology, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia., Jesenak M; National Centre for Hereditary Angioedema, Clinic of Children and Adolescents, Clinics of Pulmonology and Phthisiology, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia.; Department of Clinical Immunology and Allergology, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia.

Publikováno v: The World Allergy Organization journal [World Allergy Organ J] 2024 Mar 07; Vol. 17 (3), pp. 100885. Date of Electronic Publication: 2024 Mar 07 (Print Publication: 2024).

Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals

Autor: Vanda Repiská, Behulova R, Katarina Zavodna, Katarína Fabišíková, Petra Priscakova, Olívia Hamidová

Publikováno v: Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)

MUTYH-associated polyposis (MAP) is a rare hereditary condition caused by the biallelic mutation in the MUTYH gene encoding MUTYH glycosylase. This enzyme is a key member of the base excision repair (BER) pathway responsible for the repair of DNA les

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf47c0b816a53c5297223e725c724f6
http://europepmc.org/articles/PMC7770176

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Identification and Characterization of Novel Founder Mutations in NDRG1 : Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria.

Autor: Atkinson, Derek^1,2 (AUTHOR), Chamova, Teodora³ (AUTHOR), Candayan, Ayse^1,2 (AUTHOR) ayse.candayan@uantwerpen.be, Kastreva, Kristina³ (AUTHOR), Asenov, Ognian³ (AUTHOR), Litvinenko, Ivan⁴ (AUTHOR), Estrada-Cuzcano, Alejandro^1,2 (AUTHOR), De Vriendt, Els^1,2 (AUTHOR), Kukushev, Georgi⁵ (AUTHOR), Tournev, Ivailo^3,6 (AUTHOR) ayse.candayan@uantwerpen.be, Jordanova, Albena^1,2,7 (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 16, p9047. 13p.

Incidence of microdeletions in the AZF region of the Y chromosome in Slovak patients with azoospermia

Autor: Alexandra Bozikova, Dana Gabriková, Ivan Varga, Iveta Boronova, Lubica Strhakova, Behulova R, Vanda Repiská

Publikováno v: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia. 155(1)

Aims. The Y chromosome accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes. The long arm contains azoospermia factor (AZF) region (including sub-regions AZFa, AZFb and AZFc).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa13e70ea2083b19ae8e5cf0f25daaa1
https://pubmed.ncbi.nlm.nih.gov/21475375