The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.
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A form of the metabolic syndrome associated with mutations in DYRK1BDeletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditismLow-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasisLXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptorMolecular genetics of coronary artery diseaseLarge animal models of cardiovascular diseaseWrecked regulation of intrinsically disordered proteins in diseases: pathogenicity of deregulated regulatorsFeedback regulation of cholesterol uptake by the LXR-IDOL-LDLR axisAntagonism of Secreted PCSK9 Increases Low Density Lipoprotein Receptor Expression in HepG2 CellsRecent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.Mouse models of atherosclerosis: a historical perspective and recent advances.A gene for a low density lipoprotein receptor-related protein in the nematode Caenorhabditis elegansAnalysis of the subgroup A avian sarcoma and leukosis virus receptor: the 40-residue, cysteine-rich, low-density lipoprotein receptor repeat motif of Tva is sufficient to mediate viral entry.Cerebral cholesterol granuloma in homozygous familial hypercholesterolemiaCalnexin Delta 185-520 partially reverses the misprocessing of the Delta F508 cystic fibrosis transmembrane conductance regulator.Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia.Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemiaA new missense mutation of fibrillin in a patient with Marfan syndrome.Lipoprotein receptors: new roles for ancient proteins.Corin mutations K317E and S472G from preeclamptic patients alter zymogen activation and cell surface targeting. [Corrected]Reciprocal regulation of endocytosis and metabolismAnalysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.Mutant oocytic low density lipoprotein receptor gene family member causes atherosclerosis and female sterilityMultimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domainTransgenic mice expressing high plasma concentrations of human apolipoprotein B100 and lipoprotein(a).The E3 ubiquitin ligase IDOL induces the degradation of the low density lipoprotein receptor family members VLDLR and ApoER2.Lack of LDL receptor enhances amyloid deposition and decreases glial response in an Alzheimer's disease mouse model.Single step PCR for the identification of Low Density Lipoprotein Receptor (LDL-R) gene mutations.Endoplasmic reticulum localization of the low density lipoprotein receptor mediates presecretory degradation of apolipoprotein BFunctional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in traffickingCorrelation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.T222P mutation of the insulin-like 3 hormone receptor LGR8 is associated with testicular maldescent and hinders receptor expression on the cell surface membrane.No prescription for despair.The UMD-LDLR database: additions to the software and 490 new entries to the database.Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.Misrouted cell surface receptors as a novel disease aetiology and potential therapeutic target: the case of hypogonadotropic hypogonadism due to gonadotropin-releasing hormone resistance.Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.Targeted disruption of LDLR causes hypercholesterolemia and atherosclerosis in Yucatan miniature pigsA large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia)A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
P2860
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P2860
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 1990
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The LDL receptor locus in fami ...... nalysis of a membrane protein.
@en
The LDL receptor locus in fami ...... nalysis of a membrane protein.
@nl
type
label
The LDL receptor locus in fami ...... nalysis of a membrane protein.
@en
The LDL receptor locus in fami ...... nalysis of a membrane protein.
@nl
prefLabel
The LDL receptor locus in fami ...... nalysis of a membrane protein.
@en
The LDL receptor locus in fami ...... nalysis of a membrane protein.
@nl
P2093
P1476
The LDL receptor locus in fami ...... nalysis of a membrane protein.
@en
P2093
D W Russell
J L Goldstein
P304
P356
10.1146/ANNUREV.GE.24.120190.001025
P577
1990-01-01T00:00:00Z