Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene (Q37396133)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18383112%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene (English)

1 reference

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5 January 2020

7

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5 January 2020

F. Sessions Cole

12

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5 January 2020

author name string

Amy D McBee

1

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5 January 2020

Daniel J Wegner

2

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5 January 2020

Christopher S Carlson

3

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5 January 2020

Jennifer A Wambach

4

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5 January 2020

Ping Yang

5

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5 January 2020

Hillary B Heins

6

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5 January 2020

Michelle A Trusgnich

8

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5 January 2020

Julie Watkins-Torry

9

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5 January 2020

Lawrence M Nogee

10

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5 January 2020

Howard Henderson

11

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5 January 2020

Aaron Hamvas

13

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5 January 2020

language of work or name

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1 May 2008

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5 January 2020

published in

Pediatric Pulmonology

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5 January 2020

volume

43

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5 January 2020

page(s)

443-450

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5 January 2020

issue

5

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Comprehensive genetic variant discovery in the surfactant protein B gene

5 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765708

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

6 September 2017

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Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation

6 September 2017

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Clarifying the mechanics of DNA strand exchange in meiotic recombination

6 September 2017

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Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation

6 September 2017

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Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event

6 September 2017

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ABCA3 gene mutations in newborns with fatal surfactant deficiency

6 September 2017

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Pathways for mitotic homologous recombination in mammalian cells

6 September 2017

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A comparison of bayesian methods for haplotype reconstruction from population genotype data

6 September 2017

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Somatic gene mutation and human disease other than cancer

6 September 2017

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Hydrophobic surfactant proteins in lung function and disease

6 September 2017

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Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

6 September 2017

1 reference

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Lower-than-expected linkage disequilibrium between tightly linked markers in humans suggests a role for gene conversion

6 September 2017

1 reference

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Multiple endocrine neoplasia type 2B--genetic basis and clinical expression

6 September 2017

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A New Statistical Method for Haplotype Reconstruction from Population Data

6 September 2017

1 reference

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

6 September 2017

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

6 September 2017

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Parent-of-origin effects in multiple endocrine neoplasia type 2B

6 September 2017

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Synthetic processing of surfactant protein C by alevolar epithelial cells. The COOH terminus of proSP-C is required for post-translational targeting and proteolysis

6 September 2017

1 reference

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Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred

28 September 2017

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Substitution rate heterogeneity and the male mutation bias.

26 June 2018

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A common mutation in the surfactant protein C gene associated with lung disease.

2 September 2018

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Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease.

2 September 2018

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Diagnosis and management of tuberous sclerosis complex.

2 September 2018

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Wide variations in neighbor-dependent substitution rates.

2 September 2018

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Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FPPUL.20782

Population-based estimates of surfactant protein B deficiency

21 January 2018

1 reference

12 December 2020

Variation is the spice of life

1 reference

12 December 2020

Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards

1 reference

12 December 2020

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease

1 reference

12 December 2020

Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene

1 reference

12 December 2020

Evidence for substantial fine-scale variation in recombination rates across the human genome

1 reference

12 December 2020

Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis

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12 December 2020

Normal lung function in subjects heterozygous for surfactant protein-B deficiency

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12 December 2020

Identifiers

DOI

10.1002/PPUL.20782

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18383112%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18383112%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference