Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency (Q28138504)

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scientific article (publication date: 1999)

Language	Label	Description	Also known as
English	Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency	scientific article (publication date: 1999)

Statements

scholarly article

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Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency (English)

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congenital disorder

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based on heuristic

inferred from title

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based on heuristic

inferred from title

author name string

M Tredano

1

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R M van Elburg

2

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A G Kaspers

3

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L J Zimmermann

4

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C Houdayer

5

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P Aymard

6

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W M Hull

7

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J A Whitsett

8

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J Elion

9

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M Griese

10

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M Bahuau

11

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language of work or name

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publication date

1999

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14

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6

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502-9

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The lung-specific surfactant protein B gene promoter is a target for thyroid transcription factor 1 and hepatocyte nuclear factor 3, indicating common factors for organ-specific gene expression along the foregut axis

1 reference

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Altered surfactant homeostasis and alveolar type II cell morphology in mice lacking surfactant protein D

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Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice

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

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Involvement of granulocyte-macrophage colony-stimulating factor in pulmonary homeostasis

1 reference

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Transient surfactant protein B deficiency in a term infant with severe respiratory failure

1 reference

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Altered surfactant function and structure in SP-A gene targeted mice

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An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.

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Mice deficient for the IL-3/GM-CSF/IL-5 beta c receptor exhibit lung pathology and impaired immune response, while beta IL3 receptor-deficient mice are normal

1 reference

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Surfactant protein-B deficiency

1 reference

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

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

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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.

1 reference

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

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Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency)

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Mapping the human pulmonary surfactant-associated protein B gene (SFTP3) to chromosome 2p12-->p11.2

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21 January 2018

Identifiers

10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C

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