Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Zeev Perles"'
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:
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:
Gijs W. E. Santen, Damara Ortiz, Elisabeth M. Lodder, Francesca Clementina Radio, Michael V. Airola, Monique C. Haak, Dominic S Zimmerman, Quinn Gunst, Peter de Knijff, Katherine H. Kim, Viktor Stránecký, Stanislav Kmoch, Hiba Mustafa, Dmitriy Niyazov, H. Alex Brown, Najim Lahrouchi, Jamille Y. Robinson, Rick H. de Leeuw, Anne Sophie Denommé-Pichon, Sara Cherny, George A. Tanteles, Mariam Hababa, Joey V. Barnett, Doris Škorić-Milosavljević, Annemiek C. Dutman, Timothy J. Moss, Daniel M. de Laughter, Connie R. Bezzina, Zeev Perles, Fleur V.Y. Tjong, Matthew Ambrose, Forrest Z. Bowling, Arend D. J. ten Harkel, Katelijne Bouman, Barry Wolf, Monia Magliozzi, Asaf Ta-Shma, Lenka Piherová, Aho Ilgun, Sabrina C. Burn, Orly Elpeleg, Michael A. Frohman, Alex V. Postma, Maurice J.B. van den Hoff, Christian M. Salazar, Johanna C. Herkert, Christine Francannet, Jennifer Jacober, Andreas Rousounides, Leander Beekman, Barbara J.M. Mulder, Viktor Tomek, Bruel Ange-Line, Aphrodite Aristidou-Kallika, S. A. Clur, Gwendolyn T. R. Manten
Publikováno v:
CLIN Journal, 131(5):142148. AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef92ee7a5ecfb1bc070dbd1d6f217fa
https://hdl.handle.net/1887/3213006
https://hdl.handle.net/1887/3213006
Immune-Mediated Fetal Complete Atrioventricular Block: Can Dexamethasone Therapy Revert the Process?
Autor:
Zeev, Perles, Yuval, Ishay, Amiram, Nir, Sagui, Gavri, Julius, Golender, Asaf, Ta-Shma, Ibrahim, Abu-Zahira, Juma, Natsheh, Uriel, Elchalal, Dror, Mevorach, Azaria Jjt, Rein
Publikováno v:
The Israel Medical Association journal : IMAJ. 11(22)
Fetal complete atrioventricular block (CAVB) is usually autoimmune mediated. The risk of developing CAVB is 2% to 3% in anti-Ro/SS-A seropositive pregnancies and it increases 10 times after previous CAVB in siblings. Despite being a rare complication
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:
Arcangela Iuso, Nicola A. Grzeschik, Holger Prokisch, Iris Barshack, Muhamad Kumbar, Bart Kanon, Thomas Schwarzmayr, Gal Dubnov-Raz, Dorothea Haas, Riccardo Berutti, Bader Alhaddad, Marit Wiersma, Zeev Perles, Ben Pode-Shakked, Georg F. Hoffmann, Mathias Grigat, Tal Tirosh, Caterina Terrile, Elisa Mastantuono, Tim M. Strom, Jürgen G. Okun, Marina Rubinshtein, Matthias C. Braunisch, Yair Anikster, Shachar Abudi, Camilla Avivi, Ana C. Messias, Amir Vardi, Brundel Bianca Johanna Josephina Maria, Ody C. M. Sibon, Eran Eyal, Dina Marek-Yagel, Tobias B. Haack, Yishay Salem, Thomas Meitinger, A Volkov, Ortal Barel, Hans Joachim Schüller
Publikováno v:
American Journal of Human Genetics, 102(6), 1018-1030. CELL PRESS
Am. J. Hum. Genet. 102, 1018-1030 (2018)
The American Journal of Human Genetics
Iuso, A, Wiersma, M, Schüller, H J, Pode-Shakked, B, Marek-Yagel, D, Grigat, M, Schwarzmayr, T, Berutti, R, Alhaddad, B, Kanon, B, Grzeschik, N A, Okun, J G, Perles, Z, Salem, Y, Barel, O, Vardi, A, Rubinshtein, M, Tirosh, T, Dubnov-Raz, G, Messias, A C, Terrile, C, Barshack, I, Volkov, A, Avivi, C, Eyal, E, Mastantuono, E, Kumbar, M, Abudi, S, Braunisch, M, Strom, T M, Meitinger, T, Hoffmann, G F, Prokisch, H, Haack, T B, Brundel, B J J M, Haas, D, Sibon, O C M & Anikster, Y 2018, ' Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy ', American journal of human genetics, vol. 102, no. 6, pp. 1018-1030 . https://doi.org/10.1016/j.ajhg.2018.03.022
American journal of human genetics, 102(6), 1018-1030. Cell Press
Am. J. Hum. Genet. 102, 1018-1030 (2018)
The American Journal of Human Genetics
Iuso, A, Wiersma, M, Schüller, H J, Pode-Shakked, B, Marek-Yagel, D, Grigat, M, Schwarzmayr, T, Berutti, R, Alhaddad, B, Kanon, B, Grzeschik, N A, Okun, J G, Perles, Z, Salem, Y, Barel, O, Vardi, A, Rubinshtein, M, Tirosh, T, Dubnov-Raz, G, Messias, A C, Terrile, C, Barshack, I, Volkov, A, Avivi, C, Eyal, E, Mastantuono, E, Kumbar, M, Abudi, S, Braunisch, M, Strom, T M, Meitinger, T, Hoffmann, G F, Prokisch, H, Haack, T B, Brundel, B J J M, Haas, D, Sibon, O C M & Anikster, Y 2018, ' Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy ', American journal of human genetics, vol. 102, no. 6, pp. 1018-1030 . https://doi.org/10.1016/j.ajhg.2018.03.022
American journal of human genetics, 102(6), 1018-1030. Cell Press
Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five conse
Autor:
Asaf Ta-Shma, Aaron M. Neiman, Kai Zhang, Ekaterina Salimova, Orly Elpeleg, Alma Zernecke, Milena B. Furtado, Azaria J.J.T. Rein, Daniel Sieiro-Mosti, Avraham Shaag, Bernhard Nieswandt, Nadia Rosenthal, David Stegner, Zeev Perles
Publikováno v:
Journal of Medical Genetics. 54:278-286
BACKGROUND The underlying molecular aetiology of congenital heart defects is largely unknown. The aim of this study was to explore the genetic basis of non-syndromic severe congenital valve malformations in two unrelated families. METHODS Whole-exome
Autor:
Pawel Stankiewicz, Tamir Dagan, Joel Reiter, Przemyslaw Szafranski, Zeev Perles, Oded Breuer, Eitan Kerem
Publikováno v:
Pediatric Pulmonology. 51:921-927
Summary Background Heterozygous mutations in the FOXF1 transcription factor gene are implicated in alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a developmental disorder of the lungs classically presenting with pulmonary
Autor:
Zeev Perles, Eyal Shteyer, Malena Cohen-Cymberknoh, Eitan Kerem, Oded Breuer, David Shoseyov, Michael Wilschanski
Publikováno v:
Chest. 149:e35-e38
Hepatopulmonary syndrome (HPS) is a liver-induced lung disorder defined as a triad of liver disease, pulmonary vascular dilatation, and a defect in oxygenation. It can complicate chronic liver disease of any etiology, but is most commonly associated
Autor:
Ibrahim A. Abu Zahira, Stef J.F. Letteboer, Azaria J.J.T. Rein, Alaa Darwish, Zeev Perles, Asaf Ta-Shma, Ronald Roepman, Sabrina Spittler, Avraham Shaag, Christine Edelbusch, Petra Pennekamp, Israel Amirav, Heike Olbrich, Dorus A. Mans, Alper Gezdirici, Nael Elias, Sandra Cindric, Oded Breuer, Miriam Schmidts, Isabella Aprea, Rim Hjeij, Tabea Nöthe-Menchen, Dinu Antony, Heymut Omran, Friederike Stuhlmann, Elif Yilmaz Gulec, Niki T. Loges, Orly Elpeleg, Gerard W. Dougherty, Revital Abitbul
Publikováno v:
Plos Genetics, 14, e1007602
Plos Genetics, 14, 8, pp. e1007602
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
PLOS Genetics
Plos Genetics, 14, 8, pp. e1007602
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
PLOS Genetics
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe64d6fb5637d4db8aa4ab09c5ca0dd
http://hdl.handle.net/2066/196394
http://hdl.handle.net/2066/196394