A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis - Wikidata - awgldk - TriplyDB

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

http://www.wikidata.org/entity/Q24310146

about

Mechanism for multiple ligand recognition by the human transferrin receptor Localizing recent adaptive evolution in the human genome How mammals acquire and distribute iron needed for oxygen-based metabolism A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload.The DNA sequence and analysis of human chromosome 6 Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3 The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor Treatments for hereditary haemochromatosis: a network meta-analysis Phlebotomy for hereditary haemochromatosis Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding Neogenin interacts with hemojuvelin through its two membrane-proximal fibronectin type III domains CD81 promotes both the degradation of transferrin receptor 2 (TfR2) and the Tfr2-mediated maintenance of hepcidin expression The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis HRD1 and UBE2J1 target misfolded MHC class I heavy chains for endoplasmic reticulum-associated degradation N-glycosylation is important for the correct intracellular localization of HFE and its ability to decrease cell surface transferrin binding The WT hemochromatosis protein HFE inhibits CD8⁺ T-lymphocyte activation A mouse model of juvenile hemochromatosis.Severe iron deficiency anemia in transgenic mice expressing liver hepcidin Genetic mapping of ossification of the posterior longitudinal ligament of the spine Chromosome 6p influences on different dyslexia-related cognitive processes: further confirmation Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.Juvenile hemochromatosis locus maps to chromosome 1q.NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis The human Major Histocompatibility Complex as a paradigm in genomics research Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk Blood pressure loci identified with a gene-centric array Hereditary hemochromatosis in the post-HFE era Pathophysiology of hereditary hemochromatosis HLA-H and associated proteins in patients with hemochromatosis Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene The major histocompatibility complex-related Fc receptor for IgG (FcRn) binds albumin and prolongs its lifespan Recent advances in understanding haemochromatosis: a transition state Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility

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A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

http://www.wikidata.org/entity/Q24310146

description

1996 nî lūn-bûn

@nan

1996 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1996 թվականի օգոստոսին հրատարակված գիտական հոդված

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1996年の論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年论文

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name

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@ast

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@en

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@en-gb

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@nl

type

label

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@ast

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@en

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@en-gb

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@nl

prefLabel

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@ast

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@en

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@en-gb

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

@nl

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Nature Genetics

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A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

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P2860

Structure of the human class I histocompatibility antigen, HLA-A2

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Pairwise end sequencing: a unified approach to genomic mapping and sequencing

T cell antigen receptors and the immunoglobulin supergene family

An Fc receptor structurally related to MHC class I antigens

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399-408

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scholarly article

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523568

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10.1038/NG0896-399

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8696333

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Homeostatic iron regulator