Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Rim Hjeij"'
Autor:
Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Emma Baple, Heymut Omran
Publikováno v:
Cells, Vol 13, Iss 12, p 1017 (2024)
Defects in motile cilia, termed motile ciliopathies, result in clinical manifestations affecting the respiratory and reproductive system, as well as laterality defects and hydrocephalus. We previously defined biallelic MNS1 variants causing situs inv
Externí odkaz:
https://doaj.org/article/fc5c579b6c0a47f193de2479c29dfa89
Autor:
Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
The mechanism by which adenosine monophosphate modulates dynein ATPase-mediated ciliary and flagellar beating remains obscure. Here the authors identify an axonemal module including cilia and flagella associated protein 45 that supports adenine nucle
Externí odkaz:
https://doaj.org/article/ab0a6ca10924497e88909fc70b971840
Autor:
Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliar
Externí odkaz:
https://doaj.org/article/206fb09f592a41a7979de76d71996765
Autor:
Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
Publikováno v:
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome seque
Externí odkaz:
https://doaj.org/article/5d530776325f402694439d56dd8f1977
Autor:
Luisa Biebach, Sandra Cindrić, Julia Koenig, Isabella Aprea, Gerard W. Dougherty, Johanna Raidt, Diana Bracht, Renate Ruppel, Jens Schreiber, Rim Hjeij, Heike Olbrich, Heymut Omran
Publikováno v:
American Journal of Respiratory Cell and Molecular Biology. 67:409-413
Autor:
Rim Hjeij, Isabella Aprea, Marco Poeta, Tabea Nöthe-Menchen, Diana Bracht, Johanna Raidt, Barbara I. Honecker, Gerard W. Dougherty, Heike Olbrich, Oliver Schwartz, Ulrike Keller, Harald Nüsse, Karin E.M. Diderich, Christian Vogelberg, Francesca Santamaria, Heymut Omran
Publikováno v:
Genetics in Medicine, 25(5):100798. Lippincott Williams & Wilkins
Purpose: Primary ciliary dyskinesia (PCD) is a heterogeneous disorder that includes respiratory symptoms, laterality defects, and infertility caused by dysfunction of motile cilia. Most PCD-causing variants result in abnormal outer dynein arms (ODAs)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53d2c5b667d203ce6266b3a94f354fb
https://pure.eur.nl/en/publications/96f03a11-eee6-4329-bd32-a4d6866ccf51
https://pure.eur.nl/en/publications/96f03a11-eee6-4329-bd32-a4d6866ccf51
Autor:
Sandra Cindrić, Laura Bodenbeck, Rim Hjeij, Niki Tomas Loges, Christine Edelbusch, Petra Pennekamp, Esther Rieger-Fackeldey, Heymut Omran
Since 2000, caffeine is used as citrate salt of caffeine for treatment of apnea of prematurity. However, it remained elusive if caffeine citrate has a direct function in the respiratory epithelium, potentially as modulator for ciliary beat frequency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::298c1b06acbbca38c8c59ee23661a3b8
https://doi.org/10.20944/preprints202304.0386.v1
https://doi.org/10.20944/preprints202304.0386.v1
Autor:
Luisa, Biebach, Sandra, Cindrić, Julia, Koenig, Isabella, Aprea, Gerard W, Dougherty, Johanna, Raidt, Diana, Bracht, Renate, Ruppel, Jens, Schreiber, Rim, Hjeij, Heike, Olbrich, Heymut, Omran
Publikováno v:
American journal of respiratory cell and molecular biology. 67(3)
Autor:
Joseph S. Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A. Bearce, Laura Dyer, Jiaolong Wang, Lettie Rawlins, Joanna Kennedy, Nishanka Ubeyratna, James Fasham, Zoe H. Irons, Samuel B. Craig, Julia Koenig, Sebastian George, Ben Pode-Shakked, Yoav Bolkier, Ortal Barel, Shrikant Mane, Kathrine K. Frederiksen, Olivia Wenger, Ethan Scott, Harold E. Cross, Esben Lorentzen, Dominic P. Norris, Yair Anikster, Heymut Omran, Daniel T. Grimes, Andrew H. Crosby, Emma L. Baple
Publikováno v:
Leslie, J S, Hjeij, R, Vivante, A, Bearce, E A, Dyer, L, Wang, J, Rawlins, L, Kennedy, J, Ubeyratna, N, Fasham, J, Irons, Z H, Craig, S B, Koenig, J, George, S, Pode-Shakked, B, Bolkier, Y, Barel, O, Mane, S, Frederiksen, K K, Wenger, O, Scott, E, Cross, H E, Lorentzen, E, Norris, D P, Anikster, Y, Omran, H, Grimes, D T, Crosby, A H & Baple, E L 2022, ' Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities ', Genetics in Medicine, vol. 24, no. 11, pp. 2249-2261 . https://doi.org/10.1016/j.gim.2022.07.019
Purpose: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximatel
Autor:
Heike Olbrich, Julia Wallmeier, Heymut Omran, Petra Pennekamp, Niki T. Loges, Gerard W. Dougherty, Johanna Raidt, Rim Hjeij, Sandra Cindric
Publikováno v:
Molecular pathology and functional genomics.