Novel human pathological mutations. Gene symbol: NF1. Disease: neurofibromatosis 1 (Q95827835)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17879440 AND SRC:MED&resulttype=core&format=json

30 May 2020

title

Novel human pathological mutations. Gene symbol: NF1. Disease: neurofibromatosis 1 (English)

1 reference

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30 May 2020

author name string

Sing-Chung Li

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17879440 AND SRC:MED&resulttype=core&format=json

30 May 2020

Cheng-Hung Huang

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17879440 AND SRC:MED&resulttype=core&format=json

30 May 2020

Kun-Long Hung

series ordinal

3

1 reference

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30 May 2020

publication date

1 June 2007

1 reference

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30 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17879440 AND SRC:MED&resulttype=core&format=json

30 May 2020

volume

121

1 reference

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30 May 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17879440 AND SRC:MED&resulttype=core&format=json

30 May 2020

page(s)

647

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17879440 AND SRC:MED&resulttype=core&format=json

Case-parent triads: estimating single- and double-dose effects of fetal and maternal disease gene haplotypes

30 May 2020

cites work

1 reference

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The portability of tagSNPs across populations: a worldwide survey

25 February 2021

1 reference

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Time in the United States, social support and health behaviors during pregnancy among women of Mexican descent

25 February 2021

1 reference

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Validity of tagging SNPs across populations for association studies

25 February 2021

1 reference

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The contribution of transforming growth factor-beta and epidermal growth factor signalling to airway remodelling in chronic asthma

25 February 2021

1 reference

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Analysis of TGF-beta(1) gene polymorphisms in Hong Kong Chinese patients with asthma.

25 February 2021

1 reference

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Alu-associated enhancement of single nucleotide polymorphisms in the human genome

25 February 2021

1 reference

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Population stratification confounds genetic association studies among Latinos

25 February 2021

1 reference

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Efficiency and power in genetic association studies

25 February 2021

1 reference

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Genetic modifiers of lung disease in cystic fibrosis

25 February 2021

1 reference

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Association of transforming growth factor-beta1 single nucleotide polymorphism C-509T with allergy and immunological activities

25 February 2021

1 reference

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Is the upregulation of bradykinin B2 receptors by TGF-beta1 one of the missing pieces in the "airway hyperresponsiveness" puzzle?

25 February 2021

1 reference

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Connective tissue growth factor and vascular endothelial growth factor from airway smooth muscle interact with the extracellular matrix

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Polymorphisms of the TGF-beta1 gene are not associated with bronchial asthma in Caucasian children

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

TGF-beta potentiates airway smooth muscle responsiveness to bradykinin

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

TGFbeta1 haplotypes and asthma in Indian populations

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

[Effect of smoking during pregnancy on anthropometric characteristics at birth]

25 February 2021

1 reference

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The impact of diagnostic error on testing genetic association in case-control studies

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Method for using complete and incomplete trios to identify genes related to a quantitative trait.

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

T cell directives for transcriptional regulation in asthma

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Tests of gene-environment interaction for case-parent triads with general environmental exposures

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Transforming growth factor-beta1 promoter polymorphism C-509T is associated with asthma

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Idiopathic pulmonary fibrosis. New insights into classification and pathogenesis usher in a new era therapeutic approaches

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Statistical significance for genomewide studies

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Transforming growth factor-beta and its role in asthma

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer.

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

British guideline on the management of asthma

25 February 2021

1 reference

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Spirometric function in children of Mexico City compared to Mexican-American children

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Antioxidant supplementation and lung functions among children with asthma exposed to high levels of air pollutants.

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Increases in collagen type I synthesis in asthma: the role of eosinophils and transforming growth factor-beta

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Mechanism of transforming growth factor beta-induced inhibition of T helper type 1 differentiation

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Alu repeats and human genomic diversity

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

TGFbeta1 allele association with asthma severity

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

TGF-beta1 gene polymorphisms

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Association of the C-509-->T polymorphism, alone of in combination with the T869-->C polymorphism, of the transforming growth factor-beta1 gene with bone mineral density and genetic susceptibility to osteoporosis in Japanese women

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

The family based association test method: strategies for studying general genotype--phenotype associations.

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Release of biologically active TGF-beta from airway smooth muscle cells induces autocrine synthesis of collagen

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

A New Statistical Method for Haplotype Reconstruction from Population Data

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Association of a T29-->C polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to myocardial infarction in Japanese

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Transforming growth factor-beta 1 hyperexpression in African-American hypertensives: A novel mediator of hypertension and/or target organ damage

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

The use of case-parent triads to study joint effects of genotype and exposure

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Verification of self-reported asthma and allergy in subjects and their family members volunteering for gene mapping studies

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Genetic control of the circulating concentration of transforming growth factor type beta1

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Interleukin-10 and transforming growth factor-beta promoter polymorphisms in allergies and asthma

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Genotypic variation in the transforming growth factor-beta1 gene: association with transforming growth factor-beta1 production, fibrotic lung disease, and graft fibrosis after lung transplantation

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Distinguishing the Effects of Maternal and Offspring Genes through Studies of "Case-Parent Triads"

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Eosinophil-associated TGF- β1mRNA Expression and Airways Fibrosis in Bronchial Asthma

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Transforming growth factor-beta 1 in asthma. Measurement in bronchoalveolar lavage fluid

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Transforming growth factor beta 1 (TGF beta 1) gene expression by eosinophils in asthmatic airway inflammation

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Validation of Questionnaire and Bronchial Hyperresponsiveness against Respiratory Physician Assessment in the Diagnosis of Asthma

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

A comparison of linkage disequilibrium measures for fine-scale mapping

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

TGF-beta 1 modulates beta-adrenergic receptor number and function in cultured human tracheal smooth muscle cells

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Standardization of Spirometry, 1994 Update. American Thoracic Society

25 February 2021

1 reference

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Standardization of Diagnostic Work in Allergy

25 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1865573

Modulation of fibronectin production of bovine bronchial epithelial cells by transforming growth factor-beta

25 February 2021

1 reference