Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Gerard W Dougherty"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1888c0e0afdaddb0fe8745b9dd96b1d1
https://doi.org/10.1165/rcmb.2022-0032le
https://doi.org/10.1165/rcmb.2022-0032le
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:
Johanna Raidt, Niki T. Loges, Israel Amirav, Sarah Sandmann, Henrike Krenz, Revital Abitbul, Moran Lavie, Huda Mussafi, Avigdor Mandelberg, Alexander Wolter, Gerard W. Dougherty, Tabea Nöthe-Menchen, Julia Wallmeier, Sandra Cindric, Claudius Werner, Petra Pennekamp, Bernd Dworniczak, Miriam Schmidts, Heike Olbrich, Martin Dugas, Heymut Omran
Publikováno v:
Klinische Pädiatrie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f1e2df6584e1c66be7ab7c93a2f0764
https://doi.org/10.1055/s-0043-1761551
https://doi.org/10.1055/s-0043-1761551
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)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b751b574112d4327a11c9ebfbbad83f3
https://pubmed.ncbi.nlm.nih.gov/36047773
https://pubmed.ncbi.nlm.nih.gov/36047773
Autor:
Heike Olbrich, Gerard W. Dougherty, Heymut Omran, Cordula Koerner-Rettberg, Norbert Teig, Christoph M. Heyer, Mohammed Almannai, Eissa Faqeih, Mark Dzietko, Charlotte Thiels, Ibrahim Al Mogarri, Julia Wallmeier, Wadha Al Otaibi, Diana Bracht, Sandra Cindric, Hessa S. Alsaif, Fowzan S. Alkuraya, Sameena Khan, Aqeela Al-Hashim
Publikováno v:
Am J Hum Genet
Summary TP73 belongs to the TP53 family of transcription factors and has therefore been well studied in cancer research. Studies in mice, however, have revealed non-oncogenic activities related to multiciliogenesis. Utilizing whole-exome sequencing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f9272e22696739700c5b503a9ffc1d
https://doi.org/10.1016/j.ajhg.2021.05.002
https://doi.org/10.1016/j.ajhg.2021.05.002
Autor:
Patrick R. Sears, Hanan E. Shamseldin, Heymut Omran, Katharine E. Black, Maimoona A. Zariwala, Vladimir Vinarsky, Evgeni M. Frenkel, David M. Sabatini, Hui Min Leung, Fowzan S. Alkuraya, Michael R. Knowles, Guillermo J. Tearney, Lida P. Hariri, M. Leigh Anne Daniels, Jason H. Yang, Martin S. Taylor, Raghu R. Chivukula, Johnny L. Carson, Ibrahim Almogarri, Daniel T. Montoro, Gerard W. Dougherty
Publikováno v:
Nature medicine
Mucociliary clearance, the physiological process by which mammalian conducting airways expel pathogens and unwanted surface materials from the respiratory tract, depends on the coordinated function of multiple specialized cell types, including basal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7539e9fb4752cea492452be2bc182b
https://doi.org/10.1038/s41591-019-0730-x
https://doi.org/10.1038/s41591-019-0730-x
Autor:
Christoph M. Heyer, Heike Olbrich, Mark Dzietko, Charlotte Thiels, Hessa S. Alsaif, Fowzan S. Alkuraya, Cordula Koerner-Rettberg, Heymut Omran, Norbert Teig, Julia Wallmeier, Gerard W. Dougherty, Diana Bracht, Sandra Cindric
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c66721a54bcb94408d29b5da873856b
https://doi.org/10.1055/s-0041-1739671
https://doi.org/10.1055/s-0041-1739671
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bcdfe3778f8b14458cf005ab5eb0804d
https://doi.org/10.1183/13993003.congress-2021.oa1221
https://doi.org/10.1183/13993003.congress-2021.oa1221