Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. - Wikidata - awgldk - TriplyDB

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.

http://www.wikidata.org/entity/Q36979986

about

Revisiting Crohn's disease as a primary immunodeficiency of macrophages Interstitial Lung Disease in Childhood: Clinical and Genetic Aspects An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy Respiratory epithelial cells orchestrate pulmonary innate immunity.Genetic disorders of surfactant dysfunction Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease Orphan G protein-coupled receptor GPR116 regulates pulmonary surfactant pool size GM-CSF Down-Regulates TLR Expression via the Transcription Factor PU.1 in Human Monocytes Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes.Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?The molecular basis of pulmonary alveolar proteinosis Patient-derived granulocyte/macrophage colony-stimulating factor autoantibodies reproduce pulmonary alveolar proteinosis in nonhuman primates.Long-term follow-up and treatment of congenital alveolar proteinosis.The role of interchain heterodisulfide formation in activation of the human common beta and mouse betaIL-3 receptors.Granulocyte-macrophage colony-stimulating factor: not just another haematopoietic growth factor.Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy.Diseases of pulmonary surfactant homeostasis.Pulmonary macrophage transplantation therapy Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.A standardized blood test for the routine clinical diagnosis of impaired GM-CSF signaling using flow cytometry.Genetic Basis of Children's Interstitial Lung Disease.Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.The GM-CSF receptor utilizes β-catenin and Tcf4 to specify macrophage lineage differentiation Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile.Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis.Autoantibody-Mediated Pulmonary Alveolar Proteinosis in Rasgrp1-Deficient Mice.The granulocyte-macrophage colony-stimulating factor receptor: linking its structure to cell signaling and its role in disease.Pulmonary alveolar proteinosis, a primary immunodeficiency of impaired GM-CSF stimulation of macrophages.Use of induced pluripotent stem cells to recapitulate pulmonary alveolar proteinosis pathogenesis.Review: The intersection of surfactant homeostasis and innate host defense of the lung: lessons from newborn infants.Therapy options in pulmonary alveolar proteinosis.Imaging of Childhood Interstitial Lung Disease Diagnostic Pathology of Diffuse Lung Disease in Children.Cytokine immunomodulation for the treatment of infectious diseases: lessons from primary immunodeficiencies.Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.Update on Diffuse Lung Disease in Children.Function and safety of lentivirus-mediated gene transfer for CSF2RA-deficiency.Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health-NHLBI Workshop, September 3 and 4, 2015.

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P2860

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.

http://www.wikidata.org/entity/Q36979986

description

2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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2008年论文

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2008年论文

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name

Pulmonary alveolar proteinosis ...... some pseudoautosomal region 1.

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type

label

Pulmonary alveolar proteinosis ...... some pseudoautosomal region 1.

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prefLabel

Pulmonary alveolar proteinosis ...... some pseudoautosomal region 1.

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P1433

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P1433

Journal of Experimental Medicine

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Pulmonary alveolar proteinosis ...... some pseudoautosomal region 1.

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P2093

David P Huston

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Donna M Muzny

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Ghamartaj Tavana

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James P Moore

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Leland L Fan

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Lora R Lewis

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Margarita Martinez-Moczygemba

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Minh L Doan

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Okan Elidemir

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Richard A Gibbs

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P2860

Molecular cloning of a second subunit of the receptor for human granulocyte-macrophage colony-stimulating factor (GM-CSF): reconstitution of a high-affinity GM-CSF receptor

Expression cloning of a receptor for human granulocyte-macrophage colony-stimulating factor

Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression

Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds

A mutation in the surfactant protein C gene associated with familial interstitial lung disease

The pseudoautosomal regions, SHOX and disease

Hematopoietic and lung abnormalities in mice with a null mutation of the common beta subunit of the receptors for granulocyte-macrophage colony-stimulating factor and interleukins 3 and 5.

Biology of common beta receptor-signaling cytokines: IL-3, IL-5, and GM-CSF.

Expression and function of the human granulocyte-macrophage colony-stimulating factor receptor alpha subunit.

P304

2711-2716

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scholarly article

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10.1084/JEM.20080759

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P433

12

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P478

205

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Jonathan T. Lei

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2008-10-27T00:00:00Z

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26178393

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18955567

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2585851

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