Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. - Wikidata - wikimedia - TriplyDB

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

http://www.wikidata.org/entity/Q40415559

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Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity Encoding asymmetry of the N-glycosylation motif facilitates glycoprotein evolution ALG-2 interacting protein-X (Alix) is essential for clathrin-independent endocytosis and signaling The acquisition of novel N-glycosylation sites in conserved proteins during human evolution IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts Automated inference of molecular mechanisms of disease from amino acid substitutions.Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella Personalized medicine approach in mycobacterial disease.Proteome-wide analysis of single-nucleotide variations in the N-glycosylation sequon of human genes Hypoxia-induced changes to integrin α 3 glycosylation facilitate invasion in epidermoid carcinoma cell line A431 Genetic defects in the human glycome.Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.The core trisaccharide of an N-linked glycoprotein intrinsically accelerates folding and enhances stability In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.Fibrotic response in fibroblasts from congenital disorders of glycosylation.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Types and effects of protein variations.GPQuest: A Spectral Library Matching Algorithm for Site-Specific Assignment of Tandem Mass Spectra to Intact N-glycopeptides.Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.Human genetics of infectious diseases: a unified theory Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.History of primary immunodeficiency diseases in iran Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.Glycoprotein disease markers and single protein-omics Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.

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P2860

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

http://www.wikidata.org/entity/Q40415559

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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2005年學術文章

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2005年學術文章

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name

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

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type

label

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

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prefLabel

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

@en

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Nature Genetics

P1476

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

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P2093

Abdulaziz Al-Ghonaium

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Bernd Belohradsky

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Carolin Engelhorn

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Claire Fieschi

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Dieter Furthner

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Hans D Ochs

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Ibrahim Al-Mohsen

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Jacqueline Feinberg

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Jennifer M Puck

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Kun Yang

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P2860

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site

Fibrinogen Lima: a homozygous dysfibrinogen with an A alpha-arginine-141 to serine substitution associated with extra N-glycosylation at A alpha-asparagine-139. Impaired fibrin gel formation but normal fibrin-facilitated plasminogen activation catal

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

A combined transmembrane topology and signal peptide prediction method

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.

P2888

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692-700

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scholarly article

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10.1038/NG1581

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7

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37

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Jean-Laurent Casanova

David N. Cooper

Alexandre Alcais

Stephanie Boisson-Dupuis

Jacinta Bustamante

Mehdi Mirsaeidi

Nadia Chuzhanova

Ariane Chapgier

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2005-05-29T00:00:00Z

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7818060

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1011833398

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15924140

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