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Anja Kolb-Kokocinski

Explore the profile of Anja Kolb-Kokocinski including associated specialties, affiliations and a list of published articles. Areas
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Articles 18
Citations 1421
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Recent Articles
1.
Riebensahm C, Joosse S, Mohme M, Hanssen A, Matschke J, Goy Y, et al.
Breast Cancer Res . 2019 Sep; 21(1):101. PMID: 31481116
Background: The incidence of brain metastases in breast cancer (BCBM) patients is increasing. These patients have a very poor prognosis, and therefore, identification of blood-based biomarkers, such as circulating tumor...
2.
Kilpinen H, Goncalves A, Leha A, Afzal V, Alasoo K, Ashford S, et al.
Nature . 2017 Jun; 546(7660):686. PMID: 28614302
This corrects the article DOI: 10.1038/nature22403.
3.
Kilpinen H, Goncalves A, Leha A, Afzal V, Alasoo K, Ashford S, et al.
Nature . 2017 May; 546(7658):370-375. PMID: 28489815
Technology utilizing human induced pluripotent stem cells (iPS cells) has enormous potential to provide improved cellular models of human disease. However, variable genetic and phenotypic characterization of many existing iPS...
4.
Fuchs S, Kaiser-Labusch P, Bank J, Ammann S, Kolb-Kokocinski A, Edelbusch C, et al.
Eur J Immunol . 2016 Sep; 46(11):2639-2649. PMID: 27615517
Tyrosine kinase 2 (TYK2) associates with interferon (IFN) alpha receptor, IL-10 receptor (IL-10R) beta and other cytokine receptor subunits for signal transduction, in response to various cytokines, including type-I and...
5.
Wallmeier J, Shiratori H, Dougherty G, Edelbusch C, Hjeij R, Loges N, et al.
Am J Hum Genet . 2016 Aug; 99(2):460-9. PMID: 27486780
Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary...
6.
Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce S, Powell C, et al.
Nat Commun . 2016 Jul; 7:12039. PMID: 27356879
Epitranscriptome modifications are required for structure and function of RNA and defects in these pathways have been associated with human disease. Here we identify the RNA target for the previously...
7.
Jeroncic A, Memari Y, Ritchie G, Hendricks A, Kolb-Kokocinski A, Matchan A, et al.
Eur J Hum Genet . 2016 Apr; 24(10):1479-87. PMID: 27049301
We have whole-exome sequenced 176 individuals from the isolated population of the island of Vis in Croatia in order to describe exonic variation architecture. We found 290 577 single nucleotide...
8.
Dougherty G, Loges N, Klinkenbusch J, Olbrich H, Pennekamp P, Menchen T, et al.
Am J Respir Cell Mol Biol . 2016 Feb; 55(2):213-24. PMID: 26909801
Primary ciliary dyskinesia (PCD) is a recessively inherited disease that leads to chronic respiratory disorders owing to impaired mucociliary clearance. Conventional transmission electron microscopy (TEM) is a diagnostic standard to...
9.
Kaiser V, Svinti V, Prendergast J, Chau Y, Campbell A, Patarcic I, et al.
Hum Mol Genet . 2015 Jul; 24(19):5464-74. PMID: 26173456
Homozygous loss of function (HLOF) variants provide a valuable window on gene function in humans, as well as an inventory of the human genes that are not essential for survival...
10.
Haack T, Jackson C, Murayama K, Kremer L, Schaller A, Kotzaeridou U, et al.
Ann Clin Transl Neurol . 2015 May; 2(5):492-509. PMID: 26000322
Objective: Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and essential amino acids such as valine. Here, we describe...