Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Mehmet Tekman"'
Autor:
Carolyn M. Nielsen, Jordan R. Barrett, Christine Davis, Jonathan K. Fallon, Cyndi Goh, Ashlin R. Michell, Catherine Griffin, Andrew Kwok, Carolin Loos, Samuel Darko, Farida Laboune, Mehmet Tekman, Ababacar Diouf, Kazutoyo Miura, Joseph R. Francica, Amy Ransier, Carole A. Long, Sarah E. Silk, Ruth O. Payne, Angela M. Minassian, Douglas A. Lauffenburger, Robert A. Seder, Daniel C. Douek, Galit Alter, Simon J. Draper
Publikováno v:
JCI Insight, Vol 8, Iss 2 (2023)
Modifications to vaccine delivery that increase serum antibody longevity are of great interest for maximizing efficacy. We have previously shown that a delayed fractional (DFx) dosing schedule (0-1-6 month) — using AS01B-adjuvanted RH5.1 malaria an
Externí odkaz:
https://doaj.org/article/55c02c635c8641a881c121cc4f81a7fc
Autor:
Sumaya Islam, Mehmet Tekman, Sarah E. Flanagan, Lisa Guay‐Woodford, Khalid Hussain, Sian Ellard, Robert Kleta, Detlef Bockenhauer, Horia Stanescu, Daniela Iancu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.‐167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in h
Externí odkaz:
https://doaj.org/article/3bdb0ccb493343a698b2d7364bc467a8
Publikováno v:
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract Background The advent of modern high-throughput genetics continually broadens the gap between the rising volume of sequencing data, and the tools required to process them. The need to pinpoint a small subset of functionally important variant
Externí odkaz:
https://doaj.org/article/3403e6d0ba51440594b3bf84769811e0
Autor:
Chiara M. Schröder, Lea Zissel, Sophie-Luise Mersiowsky, Mehmet Tekman, Simone Probst, Katrin M. Schüle, Sebastian Preissl, Oliver Schilling, H. Th. Marc Timmers, Sebastian J. Arnold
Summary paragraphDifferent cell types are determined by cell lineage-specific transcriptional programmes and by epigenetic regulation of chromatin1, 2. Yet, the functional relationships between dynamically expressed transcription factors (TFs) and ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b6861716247d098d4d0012d68013372
https://doi.org/10.1101/2023.03.15.532746
https://doi.org/10.1101/2023.03.15.532746
Autor:
Katrin M. Schüle, Jelena Weckerle, Simone Probst, Alexandra E. Wehmeyer, Lea Zissel, Chiara M. Schröder, Mehmet Tekman, Gwang-Jin Kim, Inga-Marie Schlägl, null Sagar, Sebastian J. Arnold
Mammalian specification of mesoderm and definitive endoderm (DE) is instructed by the two related Tbx transcription factors (TFs)Eomesodermin(Eomes) andBrachyurysharing partially redundant functions. Gross differences of mutant embryonic phenotypes s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb0257f9d8b3e57be567d7183fb7fb13
https://doi.org/10.1101/2023.01.27.525830
https://doi.org/10.1101/2023.01.27.525830
Autor:
Chris Cheshire, Mallory L. Downie, Alvaro Madrid Aris, Steven Arora, Horia Stanescu, Christoph Licht, Lisa A. Robinson, Robert Kleta, Mehmet Tekman, Paul Brenchley, Sanjana Gupta, Detlef Bockenhauer, Ibrahim Al Attrach, Marina Munoz, Daniel P. Gale
Publikováno v:
Scientia
Downie, M L, Gupta, S, Tekman, M C, Cheshire, C, Arora, S, Licht, C, Robinson, L A, Munoz, M, Aris, A M, Al Attrach, I, Brenchley, P E, Gale, D P, Stanescu, H, Bockenhauer, D & Kleta, R 2021, ' Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy ', Kidney International Reports, vol. 6, no. 6, pp. 1669-1676 . https://doi.org/10.1016/j.ekir.2021.02.025, https://doi.org/10.1016/j.ekir.2021.02.025
Kidney International Reports, Vol 6, Iss 6, Pp 1669-1676 (2021)
Kidney International Reports
Downie, M L, Gupta, S, Tekman, M C, Cheshire, C, Arora, S, Licht, C, Robinson, L A, Munoz, M, Aris, A M, Al Attrach, I, Brenchley, P E, Gale, D P, Stanescu, H, Bockenhauer, D & Kleta, R 2021, ' Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy ', Kidney International Reports, vol. 6, no. 6, pp. 1669-1676 . https://doi.org/10.1016/j.ekir.2021.02.025, https://doi.org/10.1016/j.ekir.2021.02.025
Kidney International Reports, Vol 6, Iss 6, Pp 1669-1676 (2021)
Kidney International Reports
Introduction Membranous nephropathy (MN) is the most common cause of nephrotic syndrome (NS) in adults and is a leading cause of end-stage renal disease due to glomerulonephritis. Primary MN has a strong male predominance, accounting for approximatel
Autor:
Carolyn M. Nielsen, Jordan R. Barrett, Christine L. Davis, Jon K. Fallon, Cyndi Goh, Ashlin R. Michell, Catherine L. Griffin, Andrew Kwok, Carolin Loos, Samuel Darko, Farida Laboune, Sarah E. Silk, Mehmet Tekman, Joe Francica, Amy Ransier, Ruth Payne, Angela M. Minassian, Douglas A. Lauffenburger, Robert A. Seder, Daniel Douek, Galit Alter, Simon J. Draper
Publikováno v:
SSRN Electronic Journal.
Autor:
Sarah E. Flanagan, Sian Ellard, Khalid Hussain, Lisa M. Guay-Woodford, Detlef Bockenhauer, Daniela Iancu, Mehmet Tekman, Sumaya Islam, Horia Stanescu, Robert Kleta
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.‐167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in homozygosi
Autor:
Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai, Richard Warth
Publikováno v:
J Am Soc Nephrol
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, Limm, K, Oefner, P, Witzgall, R, Fu, L, Theilig, F, Schilling, A, Shuster Biton, E, Kalfon, L, Fedida, A, Arnon-Sheleg, E, Ben Izhak, O, Magen, D, Anikster, Y, Schulze, H, Ziegler, C, Lowe, M, Davies, B, Böckenhauer, D, Kleta, R, Falik Zaccai, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, Limm, K, Oefner, P, Witzgall, R, Fu, L, Theilig, F, Schilling, A, Shuster Biton, E, Kalfon, L, Fedida, A, Arnon-Sheleg, E, Ben Izhak, O, Magen, D, Anikster, Y, Schulze, H, Ziegler, C, Lowe, M, Davies, B, Böckenhauer, D, Kleta, R, Falik Zaccai, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312
BACKGROUND: The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely understoo
Autor:
Wouter de Laat, Yiwen Zhu, Iris Barshack, Corina Hartman, Devin Coleman-Derr, Christopher N. Mayhew, Robert Kleta, E.K. Ruzzo, Diane E. Dickel, Brian L. Black, James M. Wells, Ralston M. Barnes, E.S. Vos, Ifat Bar-Joseph, Matthew F. Kuhar, Yair Anikster, Horia Stanescu, Roni Milgrom, Pavlo Tatarskyy, David Goldstein, Amy Pitstick, Haike Reznik-Wolf, Marco Osterwalder, Axel Visel, Mehmet Tekman, Denise M. Imai, Raanan Shamir, Ben Pode-Shakked, Len A. Pennacchio, Danit Oz-Levi, Kelly Lammerts van Bueren, Rivka Shapiro, Iros Barozzi, Yujun Han, Dina Marek-Yagel, Tsviya Olender, Anna Alkelai, Veena Afzal, Elon Pras, Batia Weiss, Alexander Nord, Michael Schvimer, Doron Lancet
Publikováno v:
Nature, vol 571, iss 7763
Nature, 571(7763), 107-111. Nature Publishing Group
Nature, 571(7763), 107-111. Nature Publishing Group
Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show that deletions of a sequence on