Mechanisms of disease: genetic causes of familial hypercholesterolemia.
about
Ezetimibe therapy: mechanism of action and clinical updateAntisense-mediated exon skipping: a versatile tool with therapeutic and research applicationsThe genetics and screening of familial hypercholesterolaemiaChallenges in the Diagnosis and Treatment of Homozygous Familial HypercholesterolemiaMetabolomics in epidemiology: from metabolite concentrations to integrative reaction networksCholesterol-secreting and statin-responsive hepatocytes from human ES and iPS cells to model hepatic involvement in cardiovascular healthA mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in miceGene therapy in a humanized mouse model of familial hypercholesterolemia leads to marked regression of atherosclerosisOverexpression of low-density lipoprotein receptor in the brain markedly inhibits amyloid deposition and increases extracellular A beta clearanceConnections: can the 20th century coronary heart disease epidemic reveal something about the 1918 influenza lethality?Enhanced status of inflammation and endothelial activation in subjects with familial hypercholesterolaemia and their related unaffected family members: a case control studyPCSK9 inhibitor access barriers-issues and recommendations: Improving the access process for patients, clinicians and payers.The KLK5 protease suppresses breast cancer by repressing the mevalonate pathwayGenetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.The reverse cholesterol transport pathway improves understanding of genetic networks for fat deposition and muscle growth in beef cattleSaturation of the human phenomeGenome-wide linkage scan of a pedigree with familial hypercholesterolemia suggests susceptibility loci on chromosomes 3q25-26 and 21q22.Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.Metabolic syndrome, dyslipidemia, hypertension and type 2 diabetes in youth: from diagnosis to treatment.Proteomic plasma membrane profiling reveals an essential role for gp96 in the cell surface expression of LDLR family members, including the LDL receptor and LRP6.LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.Core fucosylation is required for midline patterning during zebrafish development.LDLR-Gene therapy for familial hypercholesterolaemia: problems, progress, and perspectivesEffects of LDL Receptor Modulation on Lymphatic FunctionWhole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.Metabolomic anatomy of an animal model revealing homeostatic imbalances in dyslipidaemia.Next-generation treatments for mental disorders.Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study.Genetics of coronary artery disease - a clinician's perspectivePCSK9 is a critical regulator of the innate immune response and septic shock outcome.Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.Premature coronary artery disease and familial hypercholesterolemia: need for early diagnosis and cascade screening in the Indian population.Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.Changes in Lipids and Lipoproteins after Selective LDL Apheresis (7-Year Experience)A model of care for familial hypercholesterolaemia: key role for clinical biochemistry.Identification of Genes Related to Growth and Lipid Deposition from Transcriptome Profiles of Pig Muscle Tissue.A Protein Domain and Family Based Approach to Rare Variant Association Analysis
P2860
Q24630302-2B3D11D1-57D6-4C36-885F-1DA9458209D8Q24682555-666E86DC-EAA9-41A9-A7CB-96EF1FD54E10Q26753081-6841DEEA-02CD-4377-829F-B933775E553FQ26787050-C147EE8F-5BD6-4B74-AB76-7FE7010C6F10Q28079376-4498BA23-5A3D-450F-839F-BB91528563DEQ28534639-156BBCC3-74AD-4031-8F78-EE570C89AF58Q28592410-04D8867E-0DF2-4D29-B41B-5A16361517F1Q28748804-F75D1DEF-329B-48E3-B497-45EA1AF69E1DQ30274556-DA4C6101-4665-4281-9C48-9C21BC23AE34Q30366108-85DF57E4-2859-4671-9487-A5F31310C64EQ33601191-4CF3BAC4-1CBC-413B-9476-9309070B99C8Q33625574-6C20E37B-0703-41D8-A990-F167130717C5Q33757009-3A0A370E-BB13-46A4-A382-939B7ADB0409Q33759643-DF2EA6C4-D6C5-4166-8919-6128E26D2F20Q33769501-3850DFA9-22D0-4FC0-A8AC-8F0715188ECCQ33885880-95054156-5285-41AC-94E5-6B7C2B6FE5C8Q34055467-C2549923-257E-4ED4-89FB-509CFA9DDC9AQ34071937-A2BB1919-CA0D-4A1F-A6C7-9272E5999385Q34128192-8AA1287E-E234-4F3E-A524-6DD8F6698BA5Q34146759-12182A44-74A6-4302-A832-08D7045C630CQ34325396-ADB932A9-1E1E-4164-BC2B-693011A31E66Q34359967-64480DF6-28E0-4CE4-BD2A-B5AC3FF33C99Q34390406-76D200B5-DA05-4003-A0A9-627FC7298FC8Q34467839-B145E06B-C64F-4BD6-9C98-3C6BCE7605CEQ34530204-AD183915-4DB7-4CC6-BA83-2A508851A050Q34569742-7D60F1B7-4027-4568-9C69-54AD84209AC6Q34626549-6F153884-08BE-4412-A72B-3A30B299058FQ34643734-392CA84F-0726-4748-86BA-31FA16BEBE98Q34673986-6C7A022C-474B-4AD4-87BF-6F54461A98C2Q34726677-76C7C82B-34AA-4AD5-BD18-20F77616A04EQ34871660-855FFE07-F5C3-4719-AAEF-19D04D0C4B77Q35028545-CDBB78D0-C119-4FE8-9FB4-2B175B5EDA69Q35125516-BA743954-003A-4B77-8EB2-9847FDB0029FQ35132267-D5EE4FBE-CD24-4B9A-9C9C-5D8ACA1D4CF3Q35494775-C548F85F-E6FB-4484-97CA-E725128FDE55Q35711232-A851BB42-4EBA-491A-BDC8-63DF86EC2E03Q35726039-AA42212D-3510-4A20-860C-71CBCDADB83DQ35771729-4FFD75FB-4530-41FE-B771-C7095EE7AF24Q35822667-1A117846-9A91-439D-A5B4-F940F02FFDEFQ36003130-C191A383-99E2-4D9D-B56B-5E36CD5BC031
P2860
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
@ast
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
@en
type
label
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
@ast
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
@en
prefLabel
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
@ast
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
@en
P356
P1476
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
@en
P2093
Anne K Soutar
Rossi P Naoumova
P2860
P304
P356
10.1038/NCPCARDIO0836
P577
2007-04-01T00:00:00Z