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Št. zadetkov: 5
Branched-chain amino acid transferase 2 (BCAT2) deficiency
Maja Filipič, Žiga Iztok Remec, Ana Drole Torkar, Nataša Šuštar, Vanja Čuk, Chiara Rodaro, Maruša Debeljak, Matej Mlinarič, Jaka Šikonja, Vesna Bančič, Primož Kotnik, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj, Barbka Repič-Lampret
Izvirni znanstveni članek
Oznake: BCAT2;branched-chain amino acids;antihistamine branched-chain amino acid transaminase;hypervalinemia;hyperleucine-isoleucinemia;insulin resistance;white matter abnormalities;
Background: Branched-chain amino acid transaminase 2 (BCAT2) deficiency is an autosomal recessive disorder that impairs branched-chain amino acid (BCAA) catabolism. Its clinical and metabolic features remain poorly understood due to limited reports in the literature. Methods: We report three novel c ...
Leto: 2026 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
ǂThe ǂdistribution of minerals in crucial plant parts of various elderberry (Sambucus spp.) interspecific hybrids
Nataša Imenšek, Vilma Šuštar, Mitja Kolar, Anton Ivančič, Janja Kristl
Izvirni znanstveni članek
Oznake: interspecific hybrids;minerals;plant parts;
In view of growing requirements of the food industry regarding elderberries (genusSambucus), a need to increase their productivity and improve their chemical composition has emerged.With this purpose in mind, numerous elderberry interspecific hybrids have been created. In thepresent work, the conten ...
Leto: 2021 Vir: Fakulteta za kmetijstvo in biosistemske vede (UM FKBV)
Tarčno preurejanje gena za centromerni protein CENH3 pri zelju (Brassica oleracea var. capitata L.) s tehnologijo CRISPR/Cas9
Ester Stajič, Borut Bohanec, Jana Murovec, Nataša Štajner, Jelka Šuštar Vozlič, Simon Horvat
Doktorska disertacija
Oznake: zelje;CRISPR/Cas9;tarčno preurejanje;protoplasti;genska transformacija;
Tarčno preurejanje genoma z uporabo tehnologije CRISPR/Cas9 je vedno pogosteje uporabljen pristop za induciranje tarčnih mutacij tudi pri rastlinah. V naših poskusih smo uporabili deset različnih sgRNA za ciljanje štirih različnih mest v genomu zelja (Brassica oleracea var. capitata L.), med njimi t ...
Leto: 2020 Vir: Biotehniška fakulteta (UL BF)
Molecular characterization and analysis of the genetic variability of Albanian olives (Olea europaea L.)
Aida Dervishi, Branka Javornik, Nataša Štajner, Jernej Jakše, Dunja Bandelj Mavsar, Jelka Šuštar Vozlič
Doktorska disertacija
Oznake: genetic variability;genotyping;microsatellite markers;Albania;olive-trees;
Molecular characterization and analysis of the genetic variability of Albanian olives (Olea europaea L.)
Leto: 2015 Vir: Biotehniška fakulteta (UL BF)
ǂThe ǂclinical spectrum and disease course of DRAM2 retinopathy
Tjaša Krašovec, Marija Volk, Maja Šuštar, Marko Hawlina, Nataša Vidovič-Valentinčič, Ana Fakin, Ana Fakin
Izvirni znanstveni članek
Oznake: DRAM2;inherited retinal dystrophy;genetic spectrum;phenotype variability;genotype– phenotype correlation;fundus autofluorescence imaging;electrophysiology;
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described ...
Leto: 2022 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 5
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