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Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia
(Nature, 2017-11)
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among ...
A global survey of CRM1-dependent nuclear export sequences in the human deubiquitinase family
(Portland Press LTD, 2012-01-01)
The mechanisms that regulate the nucleocytoplasmic localization of human deubiquitinases remain largely unknown. The nuclear export receptor CRM1 binds to specific amino acid motifs termed NESs (nuclear export sequences). ...
Caracterización estructural del supresor tumoral ING5
(2014-02-25)
Los genes de la familia de ING (INhibitors of Growth) se clasifican como supresores de tumores en base a estudios donde se muestra la existencia de pérdida, desregulación y disminución de expresión en diferentes tipos de ...
Celiac Diasease-associated lncRNA Named HCG14 Regulates NOD1 Expression in Intestinal Cells
(Wiley, 2018-08-01)
Objective:
The aim of the study is to identify additional celiac disease associated loci in the major histocompatibility complex (MHC) independent from classical HLA risk alleles (HLA-DR3-DQ2) and to characterize their ...
DEXI, a candidate gene for type 1 diabetes, modulates rat and human pancreatic beta cell inflammation via regulation of the type I IFN/STAT signalling pathway
(Springer, 2018-11-26)
Aims/hypothesis: The initial stages of type 1 diabetes are characterized by an aberrant islet inflammation that is in part regulated by the interaction between type 1 diabetes susceptibility genes and environmental factors. ...
DNA methylation epigenotypes in breast cancer molecular subtypes
(BioMed Central, 2010-09-29)
Introduction: Identification of gene expression-based breast cancer subtypes is considered a critical means of prognostication. Genetic mutations along with epigenetic alterations contribute to gene-expression changes ...
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats
(Elsevier, 2015-02)
Background: The LDL receptor (LDLR) is a Class I transmembrane protein critical for the clearance of cholesterol-containing lipoprotein particles. The N-terminal domain of the LDLR harbours the ligand-binding domain ...
Classical Swine Fever Virus p7 Protein Is a Viroporin Involved in Virulence in Swine
(American Society of Microbiology, 2012-06-15)
The nonstructural protein p7 of classical swine fever virus (CSFV) is a small hydrophobic polypeptide with an apparent molecular mass of 6 to 7 kDa. The protein contains two hydrophobic stretches of amino acids interrupted ...
A cellular reporter to evaluate CRM1 nuclear export activity: functional analysis of the cancer-related mutant E571K
(Springer Nature Switzerland AG, 2016-12)
The exportin CRM1 binds nuclear export signals (NESs), and mediates active transport of NES-bearing proteins from the nucleus to the cytoplasm. Structural and biochemical analyses have uncovered the molecular mechanisms ...
Characterization of the first PCSK9 gain of function homozygote
(Elsevier / American College of Cardiology, 2015-11)
Gain of function (GOF) mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) are a rare cause of familial hypercholesterolemia (FH). We identified a child with a clinical diagnosis of FH with 2 novel putative ...