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Št. zadetkov: 8
Majhne nekodirajoče RNA zunajceličnih veziklov pri sladkorni bolezni tipa 1
Tine Tesovnik, Tadej Battelino, Katarina Trebušak Podkrajšek
Doktorska disertacija
Oznake: endokrinologija;biokemija;
UVOD Sladkorna bolezen tipa 1 nastane kot posledica avtoimunskega uničenja celic beta Langerhansovih otočkov trebušne slinavke, ki izločajo glavni anabolni hormon inzulin. Zaradi pomanjkanja lastnega hormona inzulina so osebe s sladkorno boleznijo tipa 1 primorane doživljenjsko prejemati zdravljenje ...
Leto: 2020 Vir: Medicinska fakulteta (UL MF)
Določanje mikro RNA v urinu bolnikov z nefroblastomom
Špela Lavrič, Katarina Trebušak Podkrajšek, Tine Tesovnik
Magistrsko delo
Oznake: Wilmsov tumor;mikro RNA;spremembe nivojev miRNA;sekvenciranje naslednje generacije;
Wilmsov tumor ali nefroblastom je najpogostejše maligno obolenje ledvic v pediatrični populaciji. V večini primerov je nastanek tumorja posledica patogenih različic genov, vključenih v proces celične diferenciacije in posttranskripcijskega uravnavanja genov. Najpogostejši vzrok za nastanek tumorja s ...
Leto: 2025 Vir: Fakulteta za farmacijo (UL FFA)
ǂThe ǂimportance of early genetic diagnostics of hearing loss in children
Nina Božanić Urbančič, Saba Battelino, Tine Tesovnik, Katarina Trebušak Podkrajšek
Pregledni znanstveni članek
Oznake: hearing loss;children;genetic diagnostics;
Hearing loss is one of the most common sensory deficits. It carries severe medical and social consequences, and therefore, universal newborn hearing screening was introduced at the beginning of this century. Affected patients can have hearing loss as a solitary deficit (non-syndromic hearing loss) o ...
Leto: 2020 Vir: Medicinska fakulteta (UL MF)
Novel GRHL2 gene variant associated with hearing loss
Katarina Trebušak Podkrajšek, Tine Tesovnik, Nina Božanić Urbančič, Saba Battelino
Pregledni znanstveni članek
Oznake: autosomal-dominant hearing loss;next-generation sequencing;GRHL2 gene;
In contrast to the recessive form, hearing loss inherited in a dominant manner is more often post-lingual and typically results in a progressive sensorineural hearing loss with variable severity and late onset. Variants in the GRHL2 gene are an extremely rare cause of dominantly inherited hearing lo ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
ǂThe ǂquality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing
Barbara Slapnik, Robert Šket, Klementina Črepinšek, Tine Tesovnik, Barbara Jenko, Jernej Kovač, Jernej Kovač
Izvirni znanstveni članek
Oznake: mtDNA;heteroplasmy;mitochondrial disease;
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Association of glycemic control and cell stress with telomere attrition in type 1 diabetes
Tine Tesovnik, Jernej Kovač, Tinka Hovnik, Klemen Dovč, Nataša Bratina, Tadej Battelino, Katarina Trebušak Podkrajšek
Kratki znanstveni prispevek
Oznake: hyperglycemia;abnormal blood glucose level;oxidative stress;type 1 diabetes;
Association of glycemic control and cell stress with telomere attrition in type 1 diabetes
Leto: 2018 Vir: Medicinska fakulteta (UL MF)
Integrating genetic insights, technological advancements, screening, and personalized pharmacological interventions in childhood obesity
Robert Šket, Robert Šket, Barbara Slapnik, Primož Kotnik, Klementina Črepinšek, Barbara Čugalj Kern, Tine Tesovnik, Barbara Jenko, Blaž Vrhovšek, Žiga Iztok Remec, Maruša Debeljak, Tadej Battelino, Jernej Kovač
Pregledni znanstveni članek
Oznake: hemophilia;wearable;Florio HAEMO;adherence;patient satisfaction;
Childhood obesity is a significant global health challenge with rising prevalence over the past 50 years, affecting both immediate and long-term health outcomes. The increase in prevalence from 0.7% to 5.6% in girls and 0.9% to 7.8% in boys highlights the urgency of addressing this epidemic. By 2025 ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Sudden death of a four-day-old newborn due to mitochondrial trifunctional protein/long-chain 3-hydroxyacyl-coa dehydrogenase deficiencies and a systematic literature review of early deaths of neonates with fatty acid oxidation disorders
Ana Drole Torkar, Ana Drole Torkar, Ana Klinc, Žiga Iztok Remec, Branislava Ranković, Klara Bartolj, Sara Bertok, Sara Colja, Vanja Čuk, Maruša Debeljak, Eva Kozjek, Barbka Repič-Lampret, Matej Mlinarič, Tinka Mohar Hajnšek, Daša Perko, Katarina Štajer, Tine Tesovnik, Domen Trampuž, Blanka Ulaga, Jernej Kovač, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj, Urh Grošelj
Pregledni znanstveni članek
Oznake: FAOD;LCHAD deficiency;LCHADD;MTP deficiency;MTPD;NBS;fatty acid oxidation disorder;newborn;newborn screening;sudden infant death;
Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal presentation of MTPD/LCHADD in a term newborn. The girl was born after an une ...
Leto: 2025 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 8
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