Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Inga M. Höben"'
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:
Lena Jelten, Alper Gezdirici, Borut Peterlin, Claudius Werner, Bryan L. Krock, Cansaran Tanidir, Bernd Dworniczak, Niki T. Loges, Aleš Maver, Inga M. Höben, Elizabeth Goldmuntz, Goran Cuturilo, Zeineb Bakey, Miriam Schmidts, Han G. Brunner, Kaman Wu, Matthew A. Deardorff, Elif Yýlmaz Güleç, Diana Frank, Rim Hjeij, Heike Olbrich, Alyssa Ritter, Petra Pennekamp, Johannes Tebbe, Tabea Nöthe-Menchen, Dinu Antony, Heymut Omran
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 103, 995-1008
American Journal of Human Genetics, 103, 6, pp. 995-1008
American Journal of Human Genetics, 103(6), 995-1008. Cell Press
The American Journal of Human Genetics
American Journal of Human Genetics, 103, 995-1008
American Journal of Human Genetics, 103, 6, pp. 995-1008
American Journal of Human Genetics, 103(6), 995-1008. Cell Press
The American Journal of Human Genetics
Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of laterality defects. Laterality defects are also often associated with reduced mucociliary
Autor:
Inga M. Höben, Frank Rutsch, Heymut Omran, Albrecht Röpke, Lara Schöning, Laura Crisponi, Insa Buers, Yvonne Nitschke, Niki T. Loges
Publikováno v:
Stem Cell Research, Vol 46, Iss, Pp 101820-(2020)
Cytokine receptor like factor 1 (CRLF1) is the gene implicated, when mutated, in Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1). Here, we report the establishment of induced pluripotent stem cell lines (iPSCs) from fibroblasts of
Autor:
Lara Schöning, Laura Crisponi, Insa Buers, Inga M. Höben, Heymut Omran, Frank Rutsch, Niki T. Loges, Yvonne Nitschke, Albrecht Röpke
Publikováno v:
Stem Cell Research, Vol 46, Iss, Pp 101855-(2020)
Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. CS/CISS2 individuals suffer from recurrent episodes of hyperthermia in the neonatal period and paradoxical sw
Autor:
Hidetaka Shiratori, Claudius Werner, Kavita Praveen, Stef J.F. Letteboer, Petra Pennekamp, Petras P. Dzeja, Katrin Junger, Inga M. Höben, Franziska Rabert, Friederike Stumme, Julia Wallmeier, Isabella Aprea, Zeev Perles, Erica E. Davis, Judith A. Klinkenbusch, Israel Amirav, Yasin Memari, Yayoi Ikawa, Niki T. Loges, Diana Bracht, Wang Kyaw Twan, Kerstin Bartscherer, Tabea Nöthe-Menchen, Micha Aviram, Yuan Ping Pang, Rim Hjeij, Johanna Raidt, Heike Olbrich, Huda Mussaffi, Katsutoshi Mizuno, Nicola Horn, Timo Strünker, Heymut Omran, Sandra Cindric, Asaf Ta-Shma, Gerard W. Dougherty, Katsuyoshi Takaoka, Marius Ueffing, Thomas Kaiser, Katsura Minegishi, Jörg Große-Onnebrink, Hiroshi Hamada, Jana Gützlaff, Bernd Dworniczak, Luisa Biebach, Samuel M. Young, Orly Elpeleg, Nicholas Katsanis, Karsten Boldt, Takahiro Ide, Ronald Roepman
Publikováno v:
Nature Communications, 11
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
Nature Communications
Nature Communications, 11, 1
Nature Communications, 11(1). Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
Nature Communications
Nature Communications, 11, 1
Nature Communications, 11(1). Nature Publishing Group
Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar beating is not fully understood. Here, we de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d88a83337a6f0f647e8e4ba37a5d642
http://hdl.handle.net/2066/229376
http://hdl.handle.net/2066/229376
Autor:
Bernd Dworniczak, Tabea Nöthe-Menchen, Petra Pennekamp, Johanna Raidt, Heymut Omran, Inga M. Höben, Heike Olbrich, Julia Wallmeier, Rim Hjeij, Niki T. Loges, Gerard W. Dougherty
Publikováno v:
Circulation: Genomic and Precision Medicine. 12
Background: Nearly one in 100 live births presents with congenital heart defects (CHD). CHD is frequently associated with laterality defects, such as situs inversus , a mirrored positioning of internal organs. Body laterality is established by a comp
Autor:
Johannes M.A. Daniels, Heymut Omran, Miriam Schmidts, Gerard Pals, Anja Matter, Heike Olbrich, Kaman Wu, Erik A. Sistermans, Niki T. Loges, Natalija Bogunovic, Isabella Aprea, Jörg Große-Onnebrink, Zeineb Bakey, Eric G. Haarman, Gerard W. Dougherty, Inga M. Höben, Dimitra Micha, Claudius Werner, Tamara Paff
Publikováno v:
American Journal of Human Genetics, 100, 160-168
Paff, T, Loges, N T, Aprea, I, Wu, K, Bakey, Z, Haarman, E G, Daniels, J M A, Sistermans, E A, Bogunovic, N, Dougherty, G W, Höben, I M, Große-Onnebrink, J, Matter, A, Olbrich, H, Werner, C, Pals, G, Schmidts, M, Omran, H & Micha, D 2017, ' Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects ', American journal of human genetics, vol. 100, no. 1, pp. 160-168 . https://doi.org/10.1016/j.ajhg.2016.11.019
American journal of human genetics, 100(1), 160-168. Cell Press
The American Journal of Human Genetics
American Journal of Human Genetics, 100, 1, pp. 160-168
Paff, T, Loges, N T, Aprea, I, Wu, K, Bakey, Z, Haarman, E G, Daniels, J M A, Sistermans, E A, Bogunovic, N, Dougherty, G W, Höben, I M, Große-Onnebrink, J, Matter, A, Olbrich, H, Werner, C, Pals, G, Schmidts, M, Omran, H & Micha, D 2017, ' Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects ', American journal of human genetics, vol. 100, no. 1, pp. 160-168 . https://doi.org/10.1016/j.ajhg.2016.11.019
American journal of human genetics, 100(1), 160-168. Cell Press
The American Journal of Human Genetics
American Journal of Human Genetics, 100, 1, pp. 160-168
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four
Autor:
Tabea, Nöthe-Menchen, Julia, Wallmeier, Petra, Pennekamp, Inga M, Höben, Heike, Olbrich, Niki T, Loges, Johanna, Raidt, Gerard W, Dougherty, Rim, Hjeij, Bernd, Dworniczak, Heymut, Omran
Publikováno v:
Circ Genom Precis Med
BACKGROUND: Nearly one in 100 live births presents with congenital heart defects (CHD). CHD are frequently associated with laterality defects, such as situs inversus totalis (SIT), a mirrored positioning of internal organs. Body laterality is establi
Autor:
Gerard W. Dougherty, Petra Pennekamp, Johanna Raidt, Inga M. Höben, Laura Venditto, Julia Wallmeier, Israel Amirav, Tabea Nöthe-Menchen, Heymut Omran, Diana Frank, Huda Mussaffi, Kaman Wu, Kim G. Nielsen, Niki T. Loges, Maria C. Philipsen, Bernd Dworniczak, Zeineb Bakey, Isabella Aprea, Francesca Santamaria, Miriam Schmidts, Freerk Prenzel, Rim Hjeij, Heike Olbrich
Publikováno v:
American Journal of Human Genetics, 102, 973-984
The American Journal of Human Genetics
American Journal of Human Genetics, 102, 5, pp. 973-984
The American Journal of Human Genetics
American Journal of Human Genetics, 102, 5, pp. 973-984
Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the op
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24fe4619ded7116fdb4a67544b4ea370
https://doi.org/10.1016/j.ajhg.2018.03.025
https://doi.org/10.1016/j.ajhg.2018.03.025
Autor:
Francesca Santamaria, Gerard W. Dougherty, Niki T. Loges, Tabea Menchen, Petra Pennekamp, Miriam Schmidts, Diana Frank, Laura Venditto, Inga M. Höben, Israel Amirav, Kaman Wu, Rim Hjeij, Maria C. Philipsen, Heymut Omran, Julia Wallmeier, Isabella Aprea, Freerk Prenzel, Kim G. Nielsen, Johanna Raidt, Bernd Dworniczak, Heike Olbrich
Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility and randomization of the left/right body axis caused by defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open rea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe97d5d80174501bb885d003a57fb55