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Št. zadetkov: 2
SERPING1 variants and C1-INH biological function
Christian Drouet, Christian Drouet, Alberto López Lera, Arije Ghannam, Margarita López-Trascasa, Sven Cichon, Denise Ponard, Faidra Parsopoulou, Hana Grombirikova, Tomas Freiberger, Matija Rijavec, Camila Lopes Veronez, João Bosco Pesquero, Anastasios E. Germenis
Pregledni znanstveni članek
Oznake: SERPING1 gene;C1-INH;C1-INH-HAE;C1 inhibitor;serpinopathy;
Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of the SERPING1 gene (n = 809; 1,494 pedigrees), accounting for 86.8% of HAE families, showing a pronounced mutagenic liability of SERPING1 and pertaining to 5.6% de novo variants. C1-INH is the ...
Leto: 2022 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholestorolaemia
Amany Elshorbagy, Antonio J. Vallejo-Vaz, Fotios Barkas, Alexander R.M. Lyons, Christophe A. T. Stevens, Kanika I. Dharmayat, Alberico L. Catapano, Tomas Freiberger, G. Kees Hovingh, Pedro Mata, Urh Grošelj, Tadej Battelino, Matija Cevc, Maruša Debeljak, Ana Drole Torkar, Zlatko Fras, Borut Jug, Barbara Čugalj Kern, Jernej Kovač, Matej Mlinarič, Katarina Trebušak Podkrajšek, Jaka Šikonja
Izvirni znanstveni članek
Oznake: dyslipidaemia;adiposity;insulin resistance;atherosclerosis;
Background and aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independe ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 2
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