|
| Status |
Public on Nov 03, 2020 |
| Title |
The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Alpha-1 study [A1AT] |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Whole genome mRNA and microRNA profiling of bronchoalveolar lavage (BAL) and peripheral blood mononuclear cell (PBMC) in Alpha-1 Antitrypsin Deficiency patients with PiZZ or PiMZ alpha-1 antitrypsin genotypes
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| |
|
| Overall design |
89 patients affected by AATD were recruited at Alpha-1 Foundation Research Registry at the Medical University of South Carolina (MUSC) with matched BAL and PBMC samples. The study population includes three groups: (1) individuals with PiZZ not receiving augmentation therapy (n=29), (2) individuals with PiZZ receiving augmentation therapy (n=22) and (3) individuals with PiMZ not receiving augmentation therapy (n=38).
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| |
|
| Contributor(s) |
Chu J, Yan X, Kaminski N |
| Citation(s) |
33303696 |
| NIH grant(s) |
| Grant ID |
Grant title |
Affiliation |
Name |
| U01 HL112707 |
Sarcoidosis and A1AT Genomics & Informatics Center |
UNIVERSITY OF PITTSBURGH AT PITTSBURGH |
MICHAEL JOHN BECICH |
| U01 HL112707 |
Sarcoidosis and A1AT Genomics & Informatics Center |
UNIVERSITY OF PITTSBURGH AT PITTSBURGH |
NAFTALI KAMINSKI |
| U01 HL112707 |
Sarcoidosis and A1AT Genomics & Informatics Center |
UNIVERSITY OF PITTSBURGH AT PITTSBURGH |
Stephen R Wisniewski |
|
| Submission date |
Jan 23, 2018 |
| Last update date |
Dec 18, 2020 |
| Contact name |
Jen-hwa Chu |
| E-mail(s) |
jen-hwa.chu@yale.edu
|
| Organization name |
Yale University School of Medicine
|
| Department |
Pulmonary, Critical Care and Sleep Medicine
|
| Street address |
PO Box 208057
|
| City |
New Haven |
| State/province |
CT |
| ZIP/Postal code |
06520 |
| Country |
USA |
| |
|
| Platforms (1) |
|
| Samples (178)
|
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| Relations |
| BioProject |
PRJNA431285 |
| SRA |
SRP131152 |
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