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

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

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

http://www.wikidata.org/entity/Q24605337

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Processing of pulmonary surfactant protein B by napsin and cathepsin H Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression l7Rn6 encodes a novel protein required for clara cell function in mouse lung development Genetic interstitial lung disease Characteristics of a large cohort of patients with autoimmune pulmonary alveolar proteinosis in Japan.Pulmonary alveolar proteinosis: clinical aspects and current concepts on pathogenesis Interstitial lung disease in children -- genetic background and associated phenotypes.An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy Metabolic Functions of the Lung, Disorders and Associated Pathologies Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency Retinoic acid stimulation of the human surfactant protein B promoter is thyroid transcription factor 1 site-dependent Genetic disorders of surfactant dysfunction Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease Pulmonary surfactant pathophysiology: current models and open questions The Pulmonary Surfactant: Impact of Tobacco Smoke and Related Compounds on Surfactant and Lung Development The pulmonary surfactant: impact of tobacco smoke and related compounds on surfactant and lung development Deletion of STK40 protein in mice causes respiratory failure and death at birth.Lymphatic function is required prenatally for lung inflation at birth.Fgf10 dosage is critical for the amplification of epithelial cell progenitors and for the formation of multiple mesenchymal lineages during lung development Loss of Lysyl Oxidase-like 3 Attenuates Embryonic Lung Development in Mice Effects of the lung surfactant protein B construct Mini-B on lipid bilayer order and topography Role of the N-terminal seven residues of surfactant protein B (SP-B)Involvement of napsin A in the C- and N-terminal processing of surfactant protein B in type-II pneumocytes of the human lung.Effects of gramicidin-A on the adsorption of phospholipids to the air-water interface.Interaction of the C-terminal peptide of pulmonary surfactant protein B (SP-B) with a bicellar lipid mixture containing anionic lipid.Differential effects of lysophosphatidylcholine on the adsorption of phospholipids to an air/water interface Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus infection, but not with asthma Pepsinogen C proteolytic processing of surfactant protein B.Critical structural and functional roles for the N-terminal insertion sequence in surfactant protein B analogs.Surfactant protein B propeptide contains a saposin-like protein domain with antimicrobial activity at low pH Surfactant replacement therapy--room for improvement.Isolation and characterization of alveolar epithelial type II cells derived from mouse embryonic stem cells.Genetic risk factors associated with respiratory distress syndrome Hydrophobic surfactant proteins induce a phosphatidylethanolamine to form cubic phases Lung surfactant protein A (SP-A) interactions with model lung surfactant lipids and an SP-B fragment.The molecular era of surfactant biology.Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice.Pulmonary alveolar proteinosis: an overview for internists and hospital physicians.Pulmonary alveolar proteinosis: progress in the first 44 years.Dimeric N-terminal segment of human surfactant protein B (dSP-B(1-25)) has enhanced surface properties compared to monomeric SP-B(1-25)

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P2860

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

http://www.wikidata.org/entity/Q24605337

description

1994 nî lūn-bûn

@nan

1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

1994 թվականի ապրիլին հրատարակված գիտական հոդված

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1994年の論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年论文

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name

A mutation in the surfactant p ...... y disease in multiple kindreds

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A mutation in the surfactant p ...... y disease in multiple kindreds

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A mutation in the surfactant p ...... y disease in multiple kindreds

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type

label

A mutation in the surfactant p ...... y disease in multiple kindreds

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A mutation in the surfactant p ...... y disease in multiple kindreds

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A mutation in the surfactant p ...... y disease in multiple kindreds

@nl

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A mutation in the surfactant p ...... y disease in multiple kindreds

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A mutation in the surfactant p ...... y disease in multiple kindreds

@en

A mutation in the surfactant p ...... y disease in multiple kindreds

@nl

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Journal of Clinical Investigation

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A mutation in the surfactant p ...... y disease in multiple kindreds

@en

P2093

A M Murphy

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D E deMello

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G Garnier

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H C Dietz

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H R Colten

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L M Nogee

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L Singer

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P2860

DNA sequencing with chain-terminating inhibitors

Use of human surfactant low molecular weight apoproteins in the reconstitution of surfactant biologic activity

cDNA and deduced amino acid sequence of human pulmonary surfactant-associated proteolipid SPL(Phe)

Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Structure and organization of the gene encoding human pulmonary surfactant proteolipid SP-B

Isolation of a cDNA clone encoding a high molecular weight precursor to a 6-kDa pulmonary surfactant-associated protein

Nonsense mutations in the human beta-globin gene affect mRNA metabolism.

Hyaline membrane disease.

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

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1860-3

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scholarly article

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3454630

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10.1172/JCI117173

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4

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93

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1994-04-01T00:00:00Z

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15034942

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8163685

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294267

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