(Q35233352)

English

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

6 references

24 March 2019

22 April 2019

20 November 2019

27 November 2019

13 December 2019

31 January 2021

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

5 references

24 March 2019

22 April 2019

20 November 2019

27 November 2019

13 December 2019

alpha-1-antitrypsin deficiency

6 references

24 March 2019

22 April 2019

20 November 2019

27 November 2019

13 December 2019

31 January 2021

1 reference

20 November 2019

1 reference

27 November 2019

1 reference

13 December 2019

Serpin family A member 1

1 reference

31 January 2021

author name string

Jennifer A Dickens

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

David A Lomas

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

language of work or name

0 references

publication date

17 August 2011

7 references

Europe PubMed Central

PubMed publication ID

7 August 2017

24 March 2019

22 April 2019

20 November 2019

27 November 2019

13 December 2019

31 January 2021

Drug Design, Development and Therapy

7 references

Europe PubMed Central

PubMed publication ID

7 August 2017

24 March 2019

22 April 2019

20 November 2019

27 November 2019

13 December 2019

31 January 2021

5

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

391-405

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

copyright license

Creative Commons Attribution-NonCommercial 3.0 Unported

1 August 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

The electrophoretic α1-globulin pattern of serum in α1-antitrypsin deficiency. 1963.

1 reference

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13 July 2018

Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

The role of augmentation therapy in alpha-1 antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Therapeutic efficacy of α-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

α₁-Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

A novel monoclonal antibody to characterize pathogenic polymers in liver disease associated with alpha1-antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Alpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue Bank

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Clinical practice. Alpha1-antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Oxidized {alpha}1-antitrypsin stimulates the release of monocyte chemotactic protein-1 from lung epithelial cells: potential role in emphysema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

New Findings in PiZZ alpha1-antitrypsin deficiency-related panniculitis. Demonstration of skin polymers and high dosing requirements of intravenous augmentation therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Small molecules block the polymerization of Z alpha1-antitrypsin and increase the clearance of intracellular aggregates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Signal integration in the endoplasmic reticulum unfolded protein response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

alpha-1 antitrypsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Accumulation of mutant alpha1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and -12, NFkappaB, and BAP31 but not the unfolded protein response.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Activation of endoplasmic reticulum-specific stress responses associated with the conformational disease Z alpha 1-antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Elucidation of the molecular logic by which misfolded alpha 1-antitrypsin is preferentially selected for degradation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Sputum chemotactic activity in chronic obstructive pulmonary disease: effect of alpha(1)-antitrypsin deficiency and the role of leukotriene B(4) and interleukin 8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: a new paradigm for the pathogenesis of emphysema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Distribution of alpha1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Molecular mechanisms of alpha1-antitrypsin null alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Feasibility of a clinical trial of augmentation therapy for alpha(1)-antitrypsin deficiency. The Alpha 1-Antitrypsin Deficiency Registry Study Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Inactive conformation of the serpin alpha(1)-antichymotrypsin indicates two-stage insertion of the reactive loop: implications for inhibitory function and conformational disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

A randomized clinical trial of alpha(1)-antitrypsin augmentation therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Lung polymers in Z alpha1-antitrypsin deficiency-related emphysema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Does alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Biosynthesis of alpha1-proteinase inhibitor by human lung-derived epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Alpha 1-antitrypsin deficiency: evaluation of bronchiectasis with CT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Characterization of a human alpha 1-antitrypsin null allele involving aberrant mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Secretion of alpha 1-antitrypsin by alveolar epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

The Z type variation of human alpha 1-antitrypsin causes a protein folding defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Measurement of soluble proteins in lung secretions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Serum levels of acute phase and cardiac proteins after myocardial infarction, surgery, and infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Interrelationships between the human alveolar macrophage and alpha-1-antitrypsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Smoking, lung function, and alpha 1-antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Accumulation of the insoluble PiZ variant of human alpha 1-antitrypsin within the hepatic endoplasmic reticulum does not elevate the steady-state level of grp78/BiP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Neutrophil accumulation in the lung in alpha 1-antitrypsin deficiency. Spontaneous release of leukotriene B4 by alveolar macrophages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

The mechanism of Z alpha 1-antitrypsin accumulation in the liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

The oxidative inactivation of human alpha-1-proteinase inhibitor. Further evidence for methionine at the reactive center

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Natural History and Life Expectancy in Severe Alpha1-Antitrypsin Deficiency, Pi Z

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

13 July 2018

Oxidation of Z α1-antitrypsin by cigarette smoke induces polymerization: a novel mechanism of early-onset emphysema.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

CT scan appearance, densitometry, and health status in protease inhibitor SZ alpha1-antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Exacerbations in subjects with alpha-1 antitrypsin deficiency receiving augmentation therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Inhaled corticosteroids as additional treatment in alpha-1-antitrypsin-deficiency-related COPD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Functional results of unilateral lung volume reduction surgery in alpha1-antitrypsin deficient patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Identification of a novel alpha1-antitrypsin null variant (Q0Cairo).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Factors associated with advanced liver disease in adults with alpha1-antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Molecular mousetraps and the serpinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Z alpha1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Analyses of hepatocellular proliferation in a mouse model of alpha-1-antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Progress of emphysema in severe alpha 1-antitrypsin deficiency as assessed by annual CT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Activation of transcription factor NF-kappaB by the adenovirus E3/19K protein requires its ER retention

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3180514

26 September 2018

Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the New Alpha-1-Antitrypsin-Deficient PI M-Type Allele, PI M vall d’hebron (Pro 369 →Ser)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha-1-antitrypsin replacement therapy: will its efficacy ever be proved?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activated neutrophils secrete stored alpha 1-antitrypsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha-1-antitrypsin deficiency: outcomes after liver transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal changes in physiological, radiological, and health status measurements in alpha(1)-antitrypsin deficiency and factors associated with decline

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of augmentation therapy on bronchial inflammation in alpha1-antitrypsin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona (Asp256-->Val and Pro391-->His). Mutations in brief no. 174. Online

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Occupational exposure risks in individuals with PI*Z alpha(1)-antitrypsin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folding and stability of the Z and S(iiyama) genetic variants of human alpha1-antitrypsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha 1-antitrypsin Siiyama (Ser53-->Phe). Further evidence for intracellular loop-sheet polymerization

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver Disease in Alpha1-Antitrypsin Deficiency Detected by Screening of 200,000 Infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of inhaled glucocorticosteroids in emphysema due to alpha1-antitrypsin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Morphological identification of alpha-I-antitrypsin in the human small intestine

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hormonal regulation of serum alpha1-antitrypsin and hepatic alpha1-antitrypsin mRNA in rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Degradation of a mutant secretory protein, alpha1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypysin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha 1-antitrypsin Wbethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Augmentation therapy with alpha1-antitrypsin: patterns of use and adverse events

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha 1-antitrypsin Pi-types in 965 COPD patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ANCA-associated vasculitis is linked to carriage of the Z allele of 1 antitrypsin and its polymers

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha-1-antitrypsin protease inhibitor SZ phenotype and liver cirrhosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relationship between Weber-Christian panniculitis and the ZZ phenotype of alpha1-antitrypsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal follow-up of patients with alpha(1)-protease inhibitor deficiency before and during therapy with IV alpha(1)-protease inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replacement therapy for alpha-1-protease inhibitor deficiency in PiZ subjects with chronic obstructive lung disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA polymorphisms associated with a new ?1-antitrypsin PI Q0 variant (PI Q0riedenburg)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant [corrected; erratum to be published]

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MVarallo: a new M(Like) alpha 1-antitrypsin-deficient allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Soluble aggregates of the human PiZ alpha 1-antitrypsin variant are degraded within the endoplasmic reticulum by a mechanism sensitive to inhibitors of protein synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21966212

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2147/DDDT.S14018

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

ResearchGate publication ID

0 references

Sitelinks

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