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HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE

Known as: FHCB2, FORMERLY, Autosomal Recessive Hypercholesterolemia, ARH2, FORMERLY 
An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The… 
National Institutes of Health

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Broader (1)

Hypercholesterolemia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2020
Highly Cited
2020
COVID-19 transmission in Mainland China is associated with temperature and humidity: A time-series analysis
Review
2014
Review
2014
Adaptor proteins involved in polarized sorting
Polarized cells such as epithelial cells and neurons exhibit different plasma membrane domains with distinct protein compositions… 
Highly Cited
2013
Highly Cited
2013
Convergent translational evidence of a role for anandamide in amygdala-mediated fear extinction, threat processing and stress-reactivity
Endocannabinoids are released ‘on-demand’ on the basis of physiological need, and can be pharmacologically augmented by… 
Highly Cited
2006
Highly Cited
2006
Adsorption of Safranin-T from wastewater using waste materials- activated carbon and activated rice husks.
Review
2005
Review
2005
Development of metabolic systems
Review
2004
Review
2004
The genetics of scrapie in sheep and goats.
Scrapie, an invariably fatal disease of sheep and goats, is a transmissible spongiform encephalopathy (TSE). The putative… 
Highly Cited
2004
Highly Cited
2004
Risk of scrapie in British sheep of different prion protein genotype.
There is a well-established association between sheep prion protein (PrP) genotype and the risk of death from scrapie. Certain… 
Highly Cited
2002
Highly Cited
2002
The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery
The low density lipoprotein (LDL) receptor plays a pivotal role in cholesterol metabolism. Inherited mutations that disturb the… 
Highly Cited
2001
Highly Cited
2001
Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein
Atherogenic low density lipoproteins are cleared from the circulation by hepatic low density lipoprotein receptors (LDLR). Two… 
Highly Cited
1991
Highly Cited
1991
Regulation of estrogen receptor messenger ribonucleic acid in rat hypothalamus by sex steroid hormones.
Sex steroid hormone receptors are thought to mediate the actions of their respective hormones by functioning as ligand-activated… 
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