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Patrick Nitschké Selected Research

Mainzer-Saldino Disease

1/2018Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
11/2013Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

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Patrick Nitschké Research Topics

Disease

3Ciliopathies
10/2015 - 11/2013
2Jeune syndrome
01/2018 - 11/2013
2Mainzer-Saldino Disease
01/2018 - 11/2013
2Retinal Degeneration
04/2017 - 10/2015
1Pontocerebellar Hypoplasia
11/2020
1Leukemia
01/2020
1Meningioma (Meningiomas)
01/2020
1Proteinuria
01/2020
1Albuminuria
01/2020
1Myofibromatosis
01/2019
1Shwachman-Diamond Syndrome
01/2019
1Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
01/2019
1Movement Disorders (Movement Disorder)
10/2018
1Iron Overload
01/2018
1Schwannomatosis
01/2018
1Neurodegeneration with brain iron accumulation (NBIA)
01/2018
1Atrophy
01/2018
1Ciliary Motility Disorders (Primary Ciliary Dyskinesia)
01/2018
1Dystonia (Limb Dystonia)
01/2018
1Infections
01/2018
1Intellectual Disability (Idiocy)
01/2018
1Neoplasms (Cancer)
01/2018
1Cakut
11/2017
1Breast Neoplasms (Breast Cancer)
11/2017
1Craniofacial Abnormalities
04/2017
1Brachydactyly
04/2017
1Facioscapulohumeral Muscular Dystrophy
02/2017
1Molybdenum cofactor deficiency
01/2016
1Protein Deficiency
01/2016
1Genomic Instability
08/2015
1Pulmonary Fibrosis (Fibrosing Alveolitis)
08/2015
1Mandibulofacial Dysostosis (Treacher Collins Syndrome)
04/2015
1Alopecia (Baldness)
04/2015
1Nephrotic Syndrome (Syndrome, Nephrotic)
12/2013

Drug/Important Bio-Agent (IBA)

5Proteins (Proteins, Gene)FDA Link
01/2019 - 11/2013
2Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA
01/2020 - 10/2015
2DNA (Deoxyribonucleic Acid)IBA
10/2018 - 01/2018
1Chelating AgentsIBA
11/2020
1Phytic Acid (Inositol Hexaphosphate)IBA
11/2020
1LigandsIBA
01/2020
1AlbuminsIBA
01/2020
1AntigensIBA
01/2020
1theasinensin AIBA
01/2020
1VitaminsIBA
01/2020
1Pharmaceutical PreparationsIBA
01/2020
1intrinsic factor-cobalamin receptorIBA
01/2020
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
01/2020
1Factor VII (Proconvertin)IBA
01/2020
1GTP Phosphohydrolases (GTPases)IBA
01/2019
1Peptide Elongation Factors (Elongation Factor)IBA
01/2019
1Platelet-Derived Growth Factor beta Receptor (Receptor, Platelet Derived Growth Factor beta)IBA
01/2019
1SolutionsIBA
10/2018
1tektinsIBA
01/2018
1ElementsIBA
01/2018
1IronIBA
01/2018
1Transferrin Receptors (Transferrin Receptor)IBA
01/2018
1Retinaldehyde (Retinal)IBA
01/2018
1Calcium Channels (Calcium Channel)IBA
01/2018
1Mediator ComplexIBA
01/2018
1Tretinoin (Retinoic Acid)FDA LinkGeneric
11/2017
1Estrogens (Estrogen)FDA Link
11/2017
1Initiator Codon (Start Codon)IBA
01/2016
1LipopolysaccharidesIBA
01/2016
1A-Form DNA (A-DNA)IBA
08/2015
1RNA-Directed DNA Polymerase (Reverse Transcriptase)IBA
08/2015
1Telomerase (Telomerase Reverse Transcriptase)IBA
08/2015
1telomerase RNA (bTR)IBA
08/2015
1Endothelin Receptors (Endothelin Receptor)IBA
04/2015
1coenzyme Q10 (CoQ10)IBA
12/2013

Therapy/Procedure

1Therapeutics
02/2017