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Št. zadetkov: 3
Value of optical genome mapping (OGM) for diagnostics of rare diseases
Anja Kovanda, Olivera Miljanović, Luca Lovrečić, Aleš Maver, Alenka Hodžić, Borut Peterlin
Kratki znanstveni prispevek
Oznake: optično genomsko mapiranje;redke bolezni;genetika;genomika;
Optical genome mapping (OGM) is a novel method enabling the detection of structural genomic variants. The method is based on the laser image acquisition of single, labeled, high-molecular-weight DNA molecules and can detect structural genomic variants such as translocations, inversions, insertions, ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
ǂThe ǂrole of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility
Rebeka Podgrajšek, Alenka Hodžić, Aleš Maver, Martin Štimpfel, Aleksander Andjelic, Olivera Miljanović, Momčilo Ristanović, Borut Peterlin
Izvirni znanstveni članek
Oznake: moška neplodnost;spermatogeneza;popravljanje neujemanja DNA;geni;MSH;MLH;male infertility;spermatogenesis;mismatch repair;gens;
Background: Recent research in male infertility genetics has identified numerous candidate genes, some of which were also involved in DNA repair. Mismatch repair (MMR) genes, such as MSH4 and MSH5, have been linked to male infertility due to their role in meiosis, suggesting that other MMR genes may ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
ACE gene and male infertility
Dijana Plašeska Karanfilska, Predrag Noveski, Saša Ostojić, Alena Buretić-Tomljanović, Antun Gršković, Borut Peterlin, Helena Jaklič, Alenka Hodžić, Martin Štimpfel, Olivera Miljanović, Momčilo Ristanović, Ivana Novaković, Tanja Kunej, Rebeka Podgrajšek
Izvirni znanstveni članek
Oznake: genetika;geni;gen ACE;moška neplodnost;omike;angiotensin I converting enzyme (ACE);male infertility;azoospermia;oligozoospermia;multi-omics;
Components of the renin-angiotensin system (RAS) are expressed in both female and male reproductive tracts, with angiotensin I converting enzyme (ACE) being an important component for male reproductive function, as shown in animal models. The most studied ACE polymorphism is the Alu insertion-deleti ...
Leto: 2025 Vir: Repozitorij Univerze v Ljubljani (RUL)
Št. zadetkov: 3
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