Condition: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3


rs1057519691 in PCSK9 gene and HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 PMID 22683120 2012 Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.

PMID 12730697 2003 Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

PMID 18799458 2008 Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels.

PMID 24808179 2014 Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 19081568 2009 Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.

PMID 28777095 2017 PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 27206942 2017 Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.

PMID 16183066 2006 Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.

PMID 26374825 2015 Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

PMID 20006333 2010 The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.

PMID 25014035 2014 Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.

PMID 27280970 2016 Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

PMID 17765244 2008 Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa.

PMID 23680767 2013 The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

PMID 24607922 2014 The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family.

PMID 27896130 2016 Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

PMID 18631360 2008 Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion.

PMID 18266662 2008 Characterization of novel mutations in the catalytic domain of the PCSK9 gene.