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Genetic Basis of Children's Interstitial Lung Disease

publicerad i: Pediatric Allergy, Immunology, and Pulmonology

utgivningsår: 2010-03-01

Refererar artiklar 112

Datum

Titel

Författare

2010

Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease
2009-08-03

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

John Christodoulou, F. Sessions Cole
2009-06

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

Samarth Bhatt, Tomas W Fitzgerald, Donna M McDonald-McGinn, Usha Kini, Pawel Stankiewicz, Ankita Patel
2009-03-31

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

Pascal Barat, Serge Romana, Didier Lacombe
2009-01-01

ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn
2009-05-13

New surfactant protein C gene mutations associated with diffuse lung disease.

Loic Guillot
2009-02-01

Familial interstitial disease with I73T mutation: A mid- and long-term study
2008-12-18

Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

Chao Xing, Nick Grishin, Fernando Torres
2008-10-27

Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.

Bruce K. Rubin, Bruce C Trapnell
2008-10-27

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

Jonathan T. Lei, Donna Muzny
2008-08-01

Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease

Nobuya Inagaki
2008-12-01

Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C.

Jan Johansson
2008-07-17

Telomere shortening in familial and sporadic pulmonary fibrosis

Chao Xing, Fernando Torres
2008-06-01

Population and disease-based prevalence of the common mutations associated with surfactant deficiency

Ola Didrik Saugstad, F. Sessions Cole
2008-11-01

Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia.

Veda L. Ackerman
2008-09-01

A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea

Paolo Emidio Macchia
2008-07-01

Usual interstitial pneumonia in an adolescent with ABCA3 mutations
2007-09-20

Diffuse lung disease in young children: application of a novel classification scheme

Sharon D. Dell, Bruce C Trapnell
2007-08-01

Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation
2007-06-22

Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms
2007-06-06

ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells

Nobuya Inagaki
2007-06-01

Unexplained neonatal respiratory distress due to congenital surfactant deficiency
2007-04-25

Adult-onset pulmonary fibrosis caused by mutations in telomerase

Chao Xing
2007-02-01

Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease

Michael Dean, Ola Didrik Saugstad, Britt Nakstad, Thor Willy Ruud Hansen
2007-03-29

Telomerase mutations in families with idiopathic pulmonary fibrosis

Carol Greider
2007-09-01

ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.
2007-07-06

Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress.

Nobuya Inagaki
2007-01-30

ABCA3 as a lipid transporter in pulmonary surfactant biogenesis

Nobuya Inagaki
2007-11-16

Clinical, radiological and pathological features of ABCA3 mutations in children
2007-07-27

Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation
2006-12-01

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

David Devos, Alix de Becdelievre, Luc Defebvre
2006-09-07

Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency

Kazumitsu Ueda, Nobuya Inagaki

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