Friederike Hauser
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Explore the profile of Friederike Hauser including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
164
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Recent Articles
1.
Hauser F, Rossmann H, Adenaeuer A, Shrestha A, Marandiuc D, Paret C, et al.
Int J Mol Sci
. 2023 Dec;
24(23).
PMID: 38069343
Congenital defects of the erythrocyte membrane are common in northern Europe and all over the world. The resulting diseases, for example, hereditary spherocytosis (HS), are often underdiagnosed, partly due to...
2.
Abdel-Salam G, Hellmuth S, Gradhand E, Kaseberg S, Winter J, Pabst A, et al.
JCI Insight
. 2023 Oct;
8(22).
PMID: 37796616
MAD2L1BP-encoded p31comet mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly checkpoint (SAC) silencing, faithful chromosome segregation, insulin signaling, and homology-directed repair (HDR)...
3.
Falter T, Rossmann H, De Waele L, Dekimpe C, von Auer C, Muller-Calleja N, et al.
Blood Adv
. 2023 Jul;
7(17):5091-5102.
PMID: 37399489
Immune-mediated thrombotic thrombocytopenic purpura (iTTP), an autoantibody-mediated severe ADAMTS13 deficiency, is caused by insufficient proteolytic processing of von Willebrand factor (VWF) multimers (MMs) and microvascular thrombi. Recurrence of acute iTTP...
4.
Hauser F, Mittler J, Hantal M, Greulich L, Hermanns M, Shrestha A, et al.
Clin Chem Lab Med
. 2023 May;
61(11):1994-2001.
PMID: 37167203
Objectives: A combined digital droplet PCR (ddPCR)/pyrosequencing assay system was developed that demonstrated advantages applicable to multiple qualitative and quantitative molecular genetic diagnostic applications. Data for characterizing this combined approach...
5.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Duenas Rey A, Kaseberg S, et al.
J Clin Invest
. 2023 Mar;
133(8).
PMID: 36862503
Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating...
6.
Adenaeuer A, Barco S, Trinchero A, Krutmann S, Nazir H, Ambaglio C, et al.
J Thromb Haemost
. 2023 Jan;
21(2):237-254.
PMID: 36700498
Background: Severe high-molecular-weight kininogen (HK) deficiency is a poorly studied autosomal recessive contact system defect caused by pathogenic, biallelic KNG1 variants. Aim: We performed the first comprehensive analysis of diagnostic,...
7.
Jurk K, Adenaeuer A, Sollfrank S, Gross K, Hauser F, Czwalinna A, et al.
Cells
. 2022 Oct;
11(19).
PMID: 36231035
Germline defects in the transcription factor GATA1 are known to cause dyserythropoiesis with(out) anemia and variable abnormalities in platelet count and function. However, damaging variants closely located to the C-terminal...
8.
Hauser F, Sprinzl M, Dreis K, Renzaho A, Youhanen S, Kremer W, et al.
Med Microbiol Immunol
. 2021 Apr;
210(2-3):165-171.
PMID: 33856557
Several rapid antigen tests (RATs) for the detection of SARS-CoV-2 were evaluated recently. However, reliable performance data for laboratory-based, high-throughput antigen tests are lacking. Therefore and in response to a...
9.
Muller-Calleja N, Hollerbach A, Royce J, Ritter S, Pedrosa D, Madhusudhan T, et al.
Science
. 2021 Mar;
371(6534).
PMID: 33707237
Antiphospholipid antibodies (aPLs) cause severe autoimmune disease characterized by vascular pathologies and pregnancy complications. Here, we identify endosomal lysobisphosphatidic acid (LBPA) presented by the CD1d-like endothelial protein C receptor (EPCR)...
10.
Hauser F, Gokce S, Werner G, Danckwardt S, Sollfrank S, Neukirch C, et al.
Mol Genet Metab
. 2020 Mar;
130(1):27-35.
PMID: 32222271
Background: Interpretation of genetic variants detected by sequencing of genomic DNA, which may cause splicing defects, regularly requires mRNA analysis. Usually, only bioinformatic testing is provided, because simple and non-invasive...