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Št. zadetkov: 5
Žilna prizadetost in dolžina telomer v levkocitih pri bolnikih s Fabryjevo boleznijo
Andreja Cokan, Mišo Šabovič, Srdjan Novaković, Aleš Blinc, Katarina Trebušak Podkrajšek, Borut Peterlin
Doktorska disertacija
Oznake: interna medicina;Dedne bolezni;Disertacije;Fabryjeva bolezen;Motnje metabolizma maščob;Posledice;Patofiziologija;Dolžina telomer;
Izhodišča Fabryjeva bolezen (FB) je redka, na X-kromosom vezana dedna bolezen metabolizma maščob. Posledica genetske spremembe v GLA-genu je odsotna ali zmanjšana aktivnost lizosomskega encima ?-galaktozidaze A (?-Gal A). Posledično se v številnih celicah v telesu kopičijo glikosfingolipidi, predvse ...
Leto: 2020 Vir: Medicinska fakulteta (UL MF)
Transcriptomic approach in understanding Fabry nephropathy
Nika Breznik, Tina Levstek, Bojan Vujkovac, Andreja Cokan, Katarina Trebušak Podkrajšek, Katarina Trebušak Podkrajšek
Izvirni znanstveni članek
Oznake: Fabry nephropathy;RNA sequencing;transcriptomic;Fabry disease;lysosomal storage disease;
Background/Objectives: Fabry nephropathy (FN) is a progressive complication of Fabry disease that significantly affects patient outcomes. However, the molecular mechanisms underlying FN are not yet fully understood. Recent advances in transcriptomics have opened new perspectives for the identificati ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Telomere length, oxidative stress, and kidney damage biomarkers in Fabry nephropathy
Tina Levstek, Erazem Bahčič, Bojan Vujkovac, Andreja Cokan, Tine Tesovnik, Žiga Iztok Remec, Vanja Čuk, Katarina Trebušak Podkrajšek
Izvirni znanstveni članek
Oznake: nephropathy;telomere length;oxidative stress;kidney damage;biomarker;aging;Fabry disease;Hereditary diseases;Fabryjeva bolezen;Dedne bolezni;
Fabry nephropathy is a life-threatening complication of Fabry disease characterized by complex and incompletely understood pathophysiological processes possibly linked to premature aging. We aimed to investigate leukocyte telomere length (LTL), oxidative stress, and kidney damage biomarkers in rel ...
Leto: 2025 Vir: Repozitorij Univerze v Ljubljani (RUL)
Priporočila za odkrivanje in zdravljenje Fabryjeve bolezni v Sloveniji
Franc Verovnik, Davorin Benko, Andreja Cokan, Milan Špegel, Jožica Kotnik, Bojan Vujkovac, Franc Kotnik, Ivo Rubin, Derralyn A. Hughes, Mišo Šabovič
Pregledni znanstveni članek
Oznake:
Background Fabry disease is a rare X-chromosome linked disease. Due to gene mutation, activity of enzyme agalactosidase A is lowered or absent and sphingolipids care deposited in different organ cells. All males with gene mutation are affected but females too, due to X chromosome inactivation, can f ...
Leto: 2006 Vir: dLib.si Digitalna knjižnica Slovenije
Polymorphisms rs1800587 and rs1143634 of the interleukin-1α gene are associated with the progression of carotid atherosclerosis in Caucasians with type 2 diabetes mellitus
Aleš Pleskovič, Jovana Nikolajević-Starčević, Sara Mankoč Ramuš, Ines Cilenšek, Marija Šantl-Letonja, Jana Makuc, Andreja Cokan, Danijel Petrovič
Izvirni znanstveni članek
Oznake: carotid atherosclerosis;genetic polymorphism;interleukin-1 α;cross-sectional study;
Background: Our study was designed to test the possible association between either polymorphisms T889C (rs1800587) or C3954T (rs1143634) of the interleukin-1 alpha (IL-1α) gene with subclinical markers of carotid atherosclerosis in patients with type 2 diabetes mellitus (T2DM). Moreover, the effect ...
Leto: 2016 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 5
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