Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.
Butnariu LI et al.
Diagnostics (basel, Switzerland), 2023
Homozygous autosomal recessive hypercholesterolaemia in a South Asian child presenting with multiple cutaneous xanthomata.
Thadchanamoorthy V et al.
Annals of Clinical Biochemistry, 2021
A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene.
Nikasa P et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021
Genetics of Familial Hypercholesterolemia: New Insights.
Vrablik M et al.
Frontiers in Genetics, 2020
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.
Fahed AC et al.
Molecular Genetics & Genomic Medicine, 2016
Severe coronary and extracoronary atherosclerosis in autosomal recessive hypercholesterolemia detected by whole-body computed tomography angiography.
Arca M et al.
Internal and Emergency Medicine, 2011
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Calandra S et al.
Journal of Lipid Research, 2011
Premature senescence in cells from patients with autosomal recessive hypercholesterolemia (ARH): evidence for a role for ARH in mitosis.
Sun XM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2011
Adaptor protein disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia.
Eden ER et al.
Human Molecular Genetics, 2007
Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene.
Quagliarini F et al.
Molecular Genetics and Metabolism, 2007
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
Soutar AK et al.
Nature Clinical Practice. Cardiovascular Medicine, 2007
Autosomal recessive hypercholesterolaemia: discrimination of ARH protein and LDLR function in the homozygous FH phenotype.
Abera AB et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
Current management of severe homozygous hypercholesterolaemias.
Naoumova RP et al.
Current Opinion in Lipidology, 2004
Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2004
Pharmacological treatment of a Sardinian patient affected by Autosomal Recessive Hypercholesterolemia (ARH).
Muntoni S et al.
Journal of Clinical Lipidology, 0
Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.
Spina R et al.
Journal of Clinical Lipidology, 0