An intronic ABCA3 mutation that is responsible for respiratory disease - Wikidata - awgldk - TriplyDB

An intronic ABCA3 mutation that is responsible for respiratory disease

An intronic ABCA3 mutation that is responsible for respiratory disease

http://www.wikidata.org/entity/Q36713716

about

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 Interstitial lung disease in children Explorations to improve the completeness of exome sequencing Diffuse lung disease in children: summary of a scientific conference.Genotype-phenotype correlations for infants and children with ABCA3 deficiency Respiratory failure in a term infant with cis and trans mutations in ABCA3 A disorder of surfactant metabolism without identified genetic mutations Alternative splicing and its impact as a cancer diagnostic marker.Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.Nanoparticle-mediated rhodopsin cDNA but not intron-containing DNA delivery causes transgene silencing in a rhodopsin knockout model.A genome-wide association study for genetic susceptibility to Mycobacterium bovis infection in dairy cattle identifies a susceptibility QTL on chromosome 23.Functional Validation of ABCA3 as a Miltefosine Transporter in Human Macrophages: IMPACT ON INTRACELLULAR SURVIVAL OF LEISHMANIA (VIANNIA) PANAMENSIS.Increased risk of interstitial lung disease in children with a single R288K variant of ABCA3.Diffuse lung disease in infants less than 1 year of age: Histopathological diagnoses and clinical outcome.Children's Interstitial and Diffuse Lung Disease. Progress and Future Horizons.Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate.The biology of the ABCA3 lipid transporter in lung health and disease.Large-scale RNA-Seq Transcriptome Analysis of 4043 Cancers and 548 Normal Tissue Controls across 12 TCGA Cancer Types.Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations.The potential of antisense oligonucleotide therapies for inherited childhood lung diseases.

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An intronic ABCA3 mutation that is responsible for respiratory disease

http://www.wikidata.org/entity/Q36713716

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

An intronic ABCA3 mutation that is responsible for respiratory disease

@ast

An intronic ABCA3 mutation that is responsible for respiratory disease

@en

type

label

An intronic ABCA3 mutation that is responsible for respiratory disease

@ast

An intronic ABCA3 mutation that is responsible for respiratory disease

@en

prefLabel

An intronic ABCA3 mutation that is responsible for respiratory disease

@ast

An intronic ABCA3 mutation that is responsible for respiratory disease

@en

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P2860

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P1433

Pediatric Research

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An intronic ABCA3 mutation that is responsible for respiratory disease

@en

P2093

Aaron Hamvas

http://www.w3.org/2001/XMLSchema#string

Amit Agrawal

http://www.w3.org/2001/XMLSchema#string

Carl Coghill

http://www.w3.org/2001/XMLSchema#string

Daniel Wegner

http://www.w3.org/2001/XMLSchema#string

F Sessions Cole

http://www.w3.org/2001/XMLSchema#string

Jennifer A Wambach

http://www.w3.org/2001/XMLSchema#string

Keith Harrison

http://www.w3.org/2001/XMLSchema#string

Lawrence M Nogee

http://www.w3.org/2001/XMLSchema#string

P2860

ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells

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

Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3

High-throughput discovery of rare insertions and deletions in large cohorts

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles.

ABCA3 mutations associated with pediatric interstitial lung disease.

Unexplained neonatal respiratory distress due to congenital surfactant deficiency.

Quantification of rare allelic variants from pooled genomic DNA

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633-637

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scholarly article

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10.1038/PR.2012.21

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6

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71

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2012-02-15T00:00:00Z

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221834991

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22337229

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3607324

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