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Andrzej Dziembowski Selected Research

Poikiloderma with Neutropenia

9/2013U6 RNA biogenesis and disease association.
9/2012C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.

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Andrzej Dziembowski Research Topics

Disease

2Multiple Myeloma
01/2017 - 01/2014
2Skin Diseases (Skin Disease)
02/2016 - 09/2013
2Poikiloderma with Neutropenia
09/2013 - 09/2012
1Bone Diseases (Bone Disease)
01/2021
1Osteogenesis Imperfecta (Lobstein Disease)
01/2021
1Fragile X Syndrome (Martin Bell Syndrome)
01/2020
1Tuberculosis (Tuberculoses)
01/2019
1Decompression Sickness (Bends)
10/2018
1Acquired Immunodeficiency Syndrome (AIDS)
01/2018
1Thalassemia
01/2017
1macrosomia and Wilms tumor fetal ascites Nephroblastomatosis
12/2016
1Hypersensitivity (Allergy)
02/2016
1Atopic Dermatitis (Atopic Eczema)
02/2016
1Mitochondrial Diseases (Mitochondrial Disease)
08/2015
1AIDS-Related Complex (ARC)
12/2014
1Inborn Genetic Diseases (Disease, Hereditary)
09/2013

Drug/Important Bio-Agent (IBA)

5Proteins (Proteins, Gene)FDA Link
01/2020 - 09/2012
2Polynucleotide Adenylyltransferase (Polymerase, Poly A)IBA
01/2021 - 01/2017
2RNA (Ribonucleic Acid)IBA
01/2019 - 01/2014
2U6 small nuclear RNAIBA
09/2013 - 09/2012
1LigandsIBA
10/2018
1NucleotidesIBA
01/2017
1GlobinsIBA
01/2017
1ExoribonucleasesIBA
12/2016
1Filaggrin ProteinsIBA
02/2016
1AntigensIBA
02/2016
1HaptensIBA
02/2016
1Peptides (Polypeptides)IBA
02/2016
1Mitochondrial Proteins (Mitochondrial Protein)IBA
08/2015
1Mitochondrial DNA (mtDNA)IBA
12/2014
1Pharmaceutical PreparationsIBA
01/2014
1Phosphoric Diester Hydrolases (Phosphodiesterases)IBA
09/2012