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Alpha-1 Foundation DNA and Tissue Bank

2014-08-27 03:22:47 | BioPortfolio

Summary

This is a long-term follow-up banking protocol that collects medical information and tissue (blood, liver and lung) samples for future research; use of data and samples for research purposes is overseen by the Tissue Bank Advisory Committee; the purpose of the Bank is to further research on alpha-1 antitrypsin deficiency.

Description

Subject participation includes completion of informed consent, medical questionnaire, and email authorization. Subjects may provide a blood sample for alpha-1 antitrypsin genotype, phenotype and level. Lung and liver tissue may also be provided if available. Subjects may be contacted no more often than annually for updated information.

This project has a certificate of confidentiality from NIH.

Study Design

Time Perspective: Prospective

Conditions

Alpha 1 Antitrypsin Deficiency

Status

Active, not recruiting

Source

University of Florida

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:22:47-0400

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PubMed Articles [3412 Associated PubMed Articles listed on BioPortfolio]

Longterm Homecare Augmentation Program in Alpha-1-Antitrypsin Deficient Patients.

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Testing for alpha-1 antitrypsin in COPD in outpatient respiratory clinics in Spain: A multilevel, cross-sectional analysis of the EPOCONSUL study.

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Clinical and Histologic Features of Adults with Alpha-1 Antitrypsin Deficiency in a Non-Cirrhotic Cohort.

Alpha-1 antitrypsin deficiency (AATD) is an uncommonly recognized cause of liver disease in adults. Descriptions of the natural history of liver disease are limited to case series and patient reported...

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Medical and Biotech [MESH] Definitions

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN, leading primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. (From Scriver, Beaudet, Sly, & Valle, The Metabolic and Molecular Bases of Inherited Disease, 7th ed, p4125)

A trypsin-like enzyme of spermatozoa which is not inhibited by alpha 1 antitrypsin.

Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.

Enzymes that catalyze the exohydrolysis of 1,4-alpha-glucosidic linkages with release of alpha-glucose. Deficiency of alpha-1,4-glucosidase may cause GLYCOGEN STORAGE DISEASE TYPE II.

A transcription factor that regulates the expression of a large set of hepatic proteins including SERUM ALBUMIN; beta-fibrinogen; and ALPHA 1-ANTITRYPSIN. It is composed of hetero- or homo-dimers of HEPATOCYTE NUCLEAR FACTOR 1-ALPHA and HEPATOCYTE NUCLEAR FACTOR 1-BETA.

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