|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous familial hypercholesterolemia (hoFH) is either diagnosed on the identification of pathogenic genetic variants in LDLR, APOB, or PCSK9 or by phenotypic parameters of which an extremely elevated LDL-C level >13 mmol/L (>500 mg/dL) is the most prominent hallmark.
|
30795984 |
2020 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Novel LDL receptor (LDLR) independent drugs have been recently approved or are in development for the treatment of HoFH, including lomitapide (Juxtapid®).
|
30945578 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygous familial hypercholesterolemia is characterized by extremely elevated serum low-density lipoprotein cholesterol (LDL-C) levels and increased risk of cardiovascular complications due to biallelic mutations in LDL receptor (LDLR).
|
29233637 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We propose the following classification: familial hypercholesterolemia syndrome integrated by (1) heterozygous familial hypercholesterolemia: patients with clinically definite FH and a functional mutation in one allele of the LDLR, ApoB:100, and PCSK9 genes; (2) homozygous familial hypercholesterolemia: mutations affect both alleles; (3) polygenic familial hypercholesterolemia: patients with clinically definite FH but no mutations associated with FH are found (to be distinguished from non-familial, multifactorial hypercholesterolemia); (4) familial hypercholesterolemia combined with hypertriglyceridemia: a subgroup of familial combined hyperlipidaemia patients fulfilling clinically definite FH with associated hypertriglyceridemia.
|
31238171 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.
|
31578082 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we generated iPSC-derived HLCs from an HoFH patient harbouring a point mutation (NM_000527.4:c.901 G > T) in exon 6 of LDLR, and examined their function and immunogenicity.
|
30886174 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients from 6 alirocumab trials with elevated low-density lipoprotein cholesterol (LDL-C) and FH diagnosis were sequenced for mutations in the LDLR, apolipoprotein B, proprotein convertase subtilisin/kexin type 9, LDLR adaptor protein 1 (LDLRAP1), and signal-transducing adaptor protein 1 genes.
|
29396260 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.
|
29576406 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
|
29233637 |
2019 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The severity of hypercholesterolaemia, extent of down regulation of LDL receptor expression and aortic root localisation of atherosclerosis in cholesterol-fed rabbits strikingly resemble the cardinal features of homozygous familial hypercholesterolaemia (FH) in humans, suggesting that the former is a phenocopy of the latter.
|
30064057 |
2018 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia.
|
28964736 |
2018 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
|
28502510 |
2018 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
|
28965616 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
|
27824480 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
|
28349240 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We systematically analyzed the characteristic phenotype and the relationship between the genotype and the phenotype in HoFH children with the unique Chinese W483X mutation in the low-density lipoprotein (LDL)-receptor gene.
|
27206941 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
|
28145427 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
|
28391882 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.
|
28169869 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in the central south region of China.
|
28235710 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous familial hypercholesterolemia: Summarized case reports.
|
28126585 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
|
28104544 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.
|
28379029 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
This toxicology study supports the safety of AAV8.TBG.hLDLR for evaluation in HoFH patients, and provides some context for evaluating previously conducted clinical trials of AAV8 in patients with hemophilia.
|
28319449 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
|
28965616 |
2017 |