Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Mohammad R, Toliat"'
Autor:
Florian Erger, Deborah Nörling, Domenica Borchert, Esther Leenen, Sandra Habbig, Michael S. Wiesener, Malte P. Bartram, Andrea Wenzel, Christian Becker, Mohammad R. Toliat, Peter Nürnberg, Bodo B. Beck, Janine Altmüller
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-14 (2020)
Abstract Cell-free DNA (cfDNA) analysis has become essential in cancer diagnostics and prenatal testing. We present cfNOMe, a two-in-one method of measuring cfDNA cytosine methylation and nucleosome occupancy in a single assay using non-disruptive en
Externí odkaz:
https://doaj.org/article/bb52488d1ce849fc9f9bf985ae8ef595
Autor:
Johannes Vogt, Jenq‐Wei Yang, Arian Mobascher, Jin Cheng, Yunbo Li, Xingfeng Liu, Jan Baumgart, Carine Thalman, Sergei Kirischuk, Petr Unichenko, Guilherme Horta, Konstantin Radyushkin, Albrecht Stroh, Sebastian Richers, Nassim Sahragard, Ute Distler, Stefan Tenzer, Lianyong Qiao, Klaus Lieb, Oliver Tüscher, Harald Binder, Nerea Ferreiros, Irmgard Tegeder, Andrew J Morris, Sergiu Gropa, Peter Nürnberg, Mohammad R Toliat, Georg Winterer, Heiko J Luhmann, Jisen Huai, Robert Nitsch
Publikováno v:
EMBO Molecular Medicine, Vol 8, Iss 1, Pp 25-38 (2015)
Abstract Loss of plasticity‐related gene 1 (PRG‐1), which regulates synaptic phospholipid signaling, leads to hyperexcitability via increased glutamate release altering excitation/inhibition (E/I) balance in cortical networks. A recently reported
Externí odkaz:
https://doaj.org/article/d9725db74d88432db8fdfb78fb4c4402
Autor:
Nikolai Tschernoster, Florian Erger, Patrick R. Walsh, Bairbre McNicholas, Margareta Fistrek, Sandra Habbig, Anna-Lena Schumacher, Kat Folz-Donahue, Christian Kukat, Mohammad R. Toliat, Christian Becker, Holger Thiele, David Kavanagh, Peter Nürnberg, Bodo B. Beck, Janine Altmüller
Complement factor H (CFH) and its related proteins have an essential role in regulating the alternative pathway of the complement system. Mutations and structural variants (SVs) of the CFH gene cluster, consisting of CFH and its five related genes (C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::732e0bcb18f71ec36b290d0afad9c9d8
http://edoc.mdc-berlin.de/21545/1/21545oa.pdf
http://edoc.mdc-berlin.de/21545/1/21545oa.pdf
Autor:
Petr G. Vikhorev, Natalia Smoktunowicz, Alex B. Munster, O’ Neal Copeland, Sawa Kostin, Cecile Montgiraud, Andrew E. Messer, Mohammad R. Toliat, Amy Li, Cristobal G. dos Remedios, Sean Lal, Cheavar A. Blair, Kenneth S. Campbell, Maya Guglin, Manfred Richter, Ralph Knöll, Steven B. Marston
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-2 (2018)
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
Externí odkaz:
https://doaj.org/article/7e904c4780cb44de9c6ada44be61cfe2
Autor:
Mohammed Ibrahim, Janine Altmüller, Mohammad R. Toliat, Burkhard Tümmler, Sabina Janciauskiene, Tim Becker, Frauke Stanke, Nina Dalibor, Silke Hedtfeld, Stephanie Tamm, Andreas Pich
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-19 (2020)
Scientific Reports
Scientific Reports
SCNN1B encodes the beta subunit of the epithelial sodium channel ENaC. Previously, we reported an association between SNP markers of SCNN1B gene and disease severity in cystic fibrosis-affected sibling pairs. We hypothesized that factors interacting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b50e1e1b9220c03c055de48943cdfad
https://doaj.org/article/dcc752896878496ebfa52dadd5b3f362
https://doaj.org/article/dcc752896878496ebfa52dadd5b3f362
Autor:
Muhammad Jawad Hassan, Holger Thiele, Mohammad R. Toliat, Haseeb Anwar, Birgit Budde, Ilknur Sur-Erdem, M. Asif, Ludwig Eichinger, Arwa Ishaq A. Khayyat, Maria Iqbal, Peter Nürnberg, Muhammad Tariq, Angelika A. Noegel, Jamshaid Mahmood Baig, Ehtisham Ul Haq Makhdoom, Ilyas Ahmed, Muhammad Sher, Sarah Fischer, Uzma Abdullah, Christian Becker, Sigrid Tinschert, Stefan Höning, Muhammad Mohsin Ali Khan, Naveed Altaf Malik, Muhammad Jameel, Muhammad Sajid Hussain, Emrah Kaygusuz, Shahid Mahmood Baig
Publikováno v:
Clinical Genetics. 100:486-488
Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9937f5cb98e5a30c442b33a7e084681
https://doi.org/10.1111/cge.14028
https://doi.org/10.1111/cge.14028
Autor:
Dennis Lal, Bernd A Neubauer, Mohammad R Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0146040 (2016)
Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseases (RD) with Mendelian inheritance patterns on an
Externí odkaz:
https://doaj.org/article/ee7b5173aa644cdfb931e8c62b83260f
Autor:
Michaëla A M Huson, Brendon P Scicluna, Lonneke A van Vught, Maryse A Wiewel, Arie J Hoogendijk, Olaf L Cremer, Marc J M Bonten, Marcus J Schultz, Marek Franitza, Mohammad R Toliat, Peter Nürnberg, Martin P Grobusch, Tom van der Poll
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148955 (2016)
HIV patients have an increased risk to develop sepsis and HIV infection affects several components of the immune system involved in sepsis pathogenesis. We hypothesized that HIV infection might aggrevate the aberrant immune response during sepsis, so
Externí odkaz:
https://doaj.org/article/e6410b8069e24c3cb0b706e39896c8f0
Autor:
Bodo B. Beck, Esther Leenen, Andrea Wenzel, Florian Erger, Peter Nürnberg, Malte P. Bartram, Sandra Habbig, Mohammad R. Toliat, Janine Altmüller, Domenica Borchert, Deborah Nörling, Christian Becker, Michael S. Wiesener
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-14 (2020)
Genome Medicine
Genome Medicine
Cell-free DNA (cfDNA) analysis has become essential in cancer diagnostics and prenatal testing. We present cfNOMe, a two-in-one method of measuring cfDNA cytosine methylation and nucleosome occupancy in a single assay using non-disruptive enzymatic c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbd08df6492c4007c7d84c3b7264bd68
http://link.springer.com/article/10.1186/s13073-020-00750-5
http://link.springer.com/article/10.1186/s13073-020-00750-5
Autor:
Janine Altmüller, Birgit Budde, Holger Thiele, Susanne Motameny, Peter Nürnberg, Kathryn Konrad, Eman Abdel Fattah Sayed, Christian Becker, Mostafa R. Mohamed, Andreas Breß, Mohammad R. Toliat, Enass S. Mohamed, Amit Kawalia, Markus Pfister, Gudrun Nürnberg, Maha Abdelgaber Aly
Publikováno v:
Clinical Genetics. 98:32-42
Nonsyndromic hearing loss is an extremely heterogeneous disorder. Thus, clinical diagnostics is challenging, in particular due to differences in the etiology of hearing loss between populations. With this study, we wanted to elucidate the genetic bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4589fb9cd0466e8819d2a2409a4d5d8e
https://doi.org/10.1111/cge.13754
https://doi.org/10.1111/cge.13754