Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia - Wikidata - awgldk - TriplyDB

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

http://www.wikidata.org/entity/Q24671906

about

Abetalipoproteinemia: two case reports and literature review Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene Chorea-acanthocytosis: genetic linkage to chromosome 9q21 Genetics of non-alcoholic fatty liver disease: From susceptibility and nutrient interactions to management Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism Autosomal recessive cerebellar ataxias.No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice.Candidate-gene studies of the atherogenic lipoprotein phenotype: a sib-pair linkage analysis of DZ women twins Protein disulfide isomerases contribute differentially to the endoplasmic reticulum-associated degradation of apolipoprotein B and other substrates Central effects of humanin on hepatic triglyceride secretion.Congenital diarrheal disorders: an updated diagnostic approach.Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.Clinical utility gene card for: Abetalipoproteinaemia--Update 2014.Polymorphisms of microsomal triglyceride transfer protein in different hepatitis B virus-infected patients.Supplementary site interactions are critical for the regulation of microsomal triglyceride transfer protein by microRNA-30c.Insights from human congenital disorders of intestinal lipid metabolism.IRE1beta inhibits chylomicron production by selectively degrading MTP mRNA.Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia.Baculovirus expression and biochemical characterization of the human microsomal triglyceride transfer protein.Clinical utility gene card for: Abetalipoproteinaemia.Regulation of microsomal triglyceride transfer protein.

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Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

http://www.wikidata.org/entity/Q24671906

description

1995 nî lūn-bûn

@nan

1995 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1995 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

1995年の論文

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1995年学术文章

@wuu

1995年学术文章

@zh-cn

1995年学术文章

@zh-hans

1995年学术文章

@zh-my

1995年学术文章

@zh-sg

1995年學術文章

@yue

name

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

@ast

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

@en

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

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type

label

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

@ast

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

@en

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

@nl

prefLabel

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

@ast

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

@en

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

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American Journal of Human Genetics

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Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

@en

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C C Shoulders

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D J Brett

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G B Harrison

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T T Grantham

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T W de Bruin

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P2860

Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein

Human regeneration protein/lithostathine genes map to chromosome 2p12

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

Human microsomal triglyceride transfer protein large subunit gene structure

The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain

Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency

Oleate stimulates secretion of apolipoprotein B-containing lipoproteins from Hep G2 cells by inhibiting early intracellular degradation of apolipoprotein B

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

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abetalipoproteinemia

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