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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
TLDR
Two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH are reported, a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease
TLDR
There is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition, familial hypercholesterolaemia.
[2014 ESC Guidelines on the diagnosis and treatment of aortic diseases].
TLDR
Authors/Task Force members: Raimund Erbel, Victor Aboyans, Hervé Rousseau, Udo Sechtem, Per Anton Sirnes, Regula S.Vrints, Christiaan J.M. Vrints.
Diagnosis and management of aortic dissection.
NARC-1/PCSK9 and Its Natural Mutants
TLDR
NARC-1 seems to affect both the level of LDLR and that of circulating apoB-containing lipoproteins in an LDLR-dependent and -independent fashion.
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable age at onset and
UMD (Universal Mutation Database): A generic software to build and analyze locus‐specific databases
TLDR
A generic software called UMD (Universal Mutation Database), developed as a generic software to create locus‐specific databases (LSDBs) with the 4th Dimension® package from ACI, has been successfully adapted to nine genes either involved in cancer or in genetic diseases.
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
TLDR
The discovery in 2003 of the first mutations of the proprotein convertase subtilisin kexin 9 gene (PCSK9) causing ADH shed light on an unknown actor in cholesterol metabolism that since then has been extensively investigated.
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial
TLDR
The need for early identification of HoFH patients, prompt referral to specialized centres, and early initiation of appropriate treatment is highlighted, and recommendations offer guidance for a wide spectrum of clinicians who are often the first to identify patients with suspected HoFH.
Heterozygous TGFBR2 mutations in Marfan syndrome
TLDR
Results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders.
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