Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Friederike Häuser"'
Autor:
Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz
Publikováno v:
JCI Insight, Vol 8, Iss 22 (2023)
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
Externí odkaz:
https://doaj.org/article/c2f7dbb684e54ea28e6d06a849f00507
Autor:
Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, Nuria Gruartmoner, Mattias Van Heetvelde, Joachim Wolf, Robert Merget, Sabine Grasshoff-Derr, Jo Van Dorpe, Anne Hoorens, Heidi Stöhr, Luke Mansard, Anne-Françoise Roux, Thomas Langmann, Katharina Dannhausen, David Rosenkranz, Karl M. Wissing, Michel Van Lint, Heidi Rossmann, Friederike Häuser, Peter Nürnberg, Holger Thiele, Ulrich Zechner, Jillian N. Pearring, Elfride De Baere, Hanno J. Bolz
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 8 (2023)
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 variant in CEP162, a centrosome and microtub
Externí odkaz:
https://doaj.org/article/5751fc3eb5124e36990ef17731c43da6
Autor:
Friederike Häuser, Heidi Rossmann, Anke Adenaeuer, Annette Shrestha, Dana Marandiuc, Claudia Paret, Jörg Faber, Karl J. Lackner, Bernhard Lämmle, Olaf Beck
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 17021 (2023)
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 their sometimes mild and asymptomatic cou
Externí odkaz:
https://doaj.org/article/41e4a38d97df45df88b4b235e0f38a8a
Autor:
Kerstin Jurk, Anke Adenaeuer, Stefanie Sollfrank, Kathrin Groß, Friederike Häuser, Andreas Czwalinna, Josef Erkel, Nele Fritsch, Dana Marandiuc, Martin Schaller, Karl J. Lackner, Heidi Rossmann, Frauke Bergmann
Publikováno v:
Cells, Vol 11, Iss 19, p 3071 (2022)
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 zinc finger domain of GAT
Externí odkaz:
https://doaj.org/article/a8cbb3c86a184c079babd3ae268763de
Autor:
Friederike Häuser
Publikováno v:
Sub\urban, Vol 6, Iss 1, Pp 141-150 (2018)
Der Beitrag beleuchtet die Phänomene der unternehmerischen Stadt sowie die Privatisierung des öffentlichen Raums. Am Beispiel des Business Improvement Districs Reeperbahn+ in Hamburg St. Pauli und der Kampagne „St.Pauli pinkelt zurück“ wird di
Externí odkaz:
https://doaj.org/article/b16593b458f240fe85827b2631fd318e
Autor:
Friederike Häuser, Jens Mittler, Misra Simge Hantal, Lilli Greulich, Martina Hermanns, Annette Shrestha, Oliver Kriege, Tanja Falter, Uta D. Immel, Stephanie Herold, Brigitte Schuch, Karl J. Lackner, Heidi Rossmann, Markus Radsak
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM).
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 combi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5c52a6f4d91e0b0752193a07e62b8c4
https://doi.org/10.1515/cclm-2023-0198
https://doi.org/10.1515/cclm-2023-0198
Autor:
Kerstin, Jurk, Anke, Adenaeuer, Stefanie, Sollfrank, Kathrin, Groß, Friederike, Häuser, Andreas, Czwalinna, Josef, Erkel, Nele, Fritsch, Dana, Marandiuc, Martin, Schaller, Karl J, Lackner, Heidi, Rossmann, Frauke, Bergmann
Publikováno v:
Cells. 11(19)
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 zinc finger domain of GAT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::67b635dbd35d6530de466d7d010c20e2
https://pubmed.ncbi.nlm.nih.gov/36231035
https://pubmed.ncbi.nlm.nih.gov/36231035
Autor:
Carolin Neukirch, Julia B. Hennermann, Sven Danckwardt, Eugen Mengel, Vera Beyer, Stefanie Sollfrank, Gesa Werner, Friederike Häuser, Seyfullah Gökce, Karl J. Lackner, Heidi Rossmann
Publikováno v:
Molecular Genetics and Metabolism. 130:27-35
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 assay protocols
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee49397d09e275632b6ca73b3c55e6f4
https://doi.org/10.1016/j.ymgme.2020.03.002
https://doi.org/10.1016/j.ymgme.2020.03.002
Autor:
Anke Adenaeuer, Stefano Barco, Alice Trinchero, Sarah Krutmann, Hanan Fawzy Nazir, Chiara Ambaglio, Vincenzo Rocco, Ylenia Pancione, Luigi Tomao, Arlette Ruiz-Sáez, Marion Echenagucia, Sonja Alesci, Stefanie Sollfrank, Eyiuche D. Ezigbo, Friederike Häuser, Karl J. Lackner, Bernhard Lämmle, Heidi Rossmann
Publikováno v:
Adenaeuer, Anke; Barco, Stefano; Trinchero, Alice; Krutmann, Sarah; Nazir, Hanan Fawzy; Ambaglio, Chiara; Rocco, Vincenzo; Pancione, Ylenia; Tomao, Luigi; Ruiz-Sáez, Arlette; Echenagucia, Marion; Alesci, Sonja; Sollfrank, Stefanie; Ezigbo, Eyiuche D; Häuser, Friederike; Lackner, Karl J; Lämmle, Bernhard; Rossmann, Heidi (2023). Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence. Journal of thrombosis and haemostasis, 21(2), pp. 237-254. Wiley-Blackwell 10.1016/j.jtha.2022.11.011
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, clinical,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c088ca3ab768b00350dcd0276b83e8e
Autor:
Jillian N. Pearring, Jason R. Willer, Joachim Wolf, Mattias Van Heetvelde, Heidi Stöhr, Anne-Françoise Roux, Heidi Rossmann, Nafisa Nuzhat, David Rosenkranz, Jennifer Winter, Sabine Grasshoff-Derr, Kristof Van Schil, Sandra Liakopoulos, Robert Merget, Luke Mansard, Miriam Bauwens, Hanh Truong, Hanno J. Bolz, Peter Nürnberg, Nuria Gruartmoner, Holger Thiele, U. Zechner, Anne Hoorens, Alfredo Dueñas Rey, Thomas Langmann, Melanie Jäger, Karl Martin Wissing, Stephan Käseberg, Friederike Häuser, Jo Van Dorpe, Elfride De Baere, Michel Van Lint, Katharina Dannhausen
Ciliopathies often comprise retinal degeneration since the photoreceptors outer segment is an adapted primary cilium. CEP162 is a distal end centriolar protein required for proper transition zone assembly during ciliogenesis and whose loss causes cil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6b89eeab7b6bbfdacb15c2e8642daa6
https://doi.org/10.1101/2021.11.23.469779
https://doi.org/10.1101/2021.11.23.469779