(Q37273940)

19 August 2017

A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease (English)

1 reference

chronic obstructive pulmonary disease

19 August 2017

0 references

Augusto A Litonjua

1 reference

19 August 2017

Frank E Speizer

1 reference

19 August 2017

Cassandra M Kelleher

1 reference

19 August 2017

Edwin K Silverman

1 reference

19 August 2017

Thomas Broekelmann

1 reference

19 August 2017

Melvin Hernandez

1 reference

19 August 2017

Jody S Sylvia

1 reference

19 August 2017

Joan Stoler

1 reference

19 August 2017

John J Reilly

1 reference

19 August 2017

Harold A Chapman

1 reference

19 August 2017

Scott T Weiss

1 reference

19 August 2017

Robert P Mecham

1 reference

19 August 2017

Benjamin A Raby

1 reference

19 August 2017

4 August 2005

1 reference

American Journal of Respiratory Cell and Molecular Biology

19 August 2017

1 reference

19 August 2017

1 reference

19 August 2017

1 reference

19 August 2017

355-362

1 reference

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Missense variations in the fibulin 5 gene and age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Gene polymorphism in Netherton and common atopic disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Mouse models of genetic diseases resulting from mutations in elastic fiber proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Genetic disorders of the elastic fiber system

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Searching for genetic determinants in the new millennium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Deaths: final data for 1997.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

The future of genetic studies of complex human diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Functional domains on elastin and microfibril-associated glycoprotein involved in elastic fibre assembly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

PHD: predicting one-dimensional protein structure by profile-based neural networks

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Congenital cutis laxa with a dominant inheritance and early onset emphysema

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Reference spirometric values using techniques and equipment that meet ATS recommendations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

6 September 2017

Emphysema and cutis laxa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Transformation of human ciliary epithelial cells by simian virus 40: induction of cell proliferation and retention of beta 2-adrenergic receptors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Fibroblast adhesion to recombinant tropoelastin expressed as a protein A-fusion protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Quantitative relationships between cigarette smoking and ventilatory function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Epidemiology Standardization Project (American Thoracic Society)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Elastases and emphysema. Current assessment of the protease-antiprotease hypothesis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

The induction of emphysema with elastase. II. Changes in connective tissue

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Co-regulation of cell adhesion by nanoscale RGD organization and mechanical stimulus.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Cutis laxa (generalized elastolysis). A report of four cases with autopsy findings

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Integrin alpha v beta 3 binds a unique non-RGD site near the C-terminus of human tropoelastin

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Domains in tropoelastin that mediate elastin deposition in vitro and in vivo.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Impaired distal airway development in mice lacking elastin.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2715343

Alpha 1-antitrypsin Pi-types in 965 COPD patients

3 September 2018

1 reference

12 December 2020

The relationship of nonspecific bronchial responsiveness to the occurrence of respiratory symptoms and decreased levels of pulmonary function. The Normative Aging Study

1 reference

12 December 2020

Selective degradation of accumulated secretory proteins in the endoplasmic reticulum. A possible clearance pathway for abnormal tropoelastin

1 reference

12 December 2020

Elastin degradation by matrix metalloproteinases. Cleavage site specificity and mechanisms of elastolysis

1 reference

12 December 2020

Rationale and design of the national emphysema treatment trial (NETT): A prospective randomized trial of lung volume reduction surgery

1 reference

12 December 2020

1 reference

12 December 2020

Genome-wide linkage of forced mid-expiratory flow in chronic obstructive pulmonary disease

1 reference

12 December 2020

Genetic and Environmental Determinants of Chronic Obstructive Pulmonary Disease

1 reference

12 December 2020

The induction of pulmonary emphysema with human leukocyte elastase

1 reference

12 December 2020

Measurement of cell numbers by means of the endogenous enzyme hexosaminidase. Applications to detection of lymphokines and cell surface antigens

1 reference

12 December 2020

Identifiers

DOI

10.1165/RCMB.2005-0206OC

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

16081882

1 reference