Zobrazeno 1 - 10
of 1 195
pro vyhledávání: '"Mustafa Sahin"'
Autor:
Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Benjamin Zhang, Maria Sundberg, Cidi Chen, Elizabeth D. Buttermore, Nina Makhortova, Jennifer Howe, Mustafa Sahin, Stephen W. Scherer
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 638-647 (2024)
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas nucleases and human induced pluripotent stem cell (iPSC) technology can reveal deep insight into the genetic and molecular bases of human biology and disease. Undesired editing ou
Externí odkaz:
https://doaj.org/article/fce05ccaaede435b84e6e74474bfe7f5
Autor:
Mustafa Sahin Dogan
Publikováno v:
Journal of Water and Climate Change, Vol 15, Iss 6, Pp 2547-2561 (2024)
A climate change assessment for streamflow availability of the selected rivers in Turkey is presented. Using an Index Basin Mapping (IBM) approach, climate change information is transferred across hydrologically similar rivers. This approach maps riv
Externí odkaz:
https://doaj.org/article/be164da6ab6745b9b2132af3d2b469b2
Autor:
Jacquelyn A. Brown, Shannon L. Faley, Monika Judge, Patricia Ward, Rebecca A. Ihrie, Robert Carson, Laura Armstrong, Mustafa Sahin, John P. Wikswo, Kevin C. Ess, M. Diana Neely
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-16 (2024)
Abstract Background Tuberous sclerosis complex (TSC) is a multi-system genetic disease that causes benign tumors in the brain and other vital organs. The most debilitating symptoms result from involvement of the central nervous system and lead to a m
Externí odkaz:
https://doaj.org/article/302796375aee43128c1c645409209e15
Autor:
Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W. Frazier, Siddharth Srivastava, Sumit Parikh, Gary E. Hsich, Neil R. Friedman, David M. Ritter, Antonio Y. Hardan, Julian A. Martinez‐Agosto, Mustafa Sahin, Charis Eng
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1301-1309 (2024)
Abstract Objective PTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurologic
Externí odkaz:
https://doaj.org/article/e627e51a7036402a954a98ebc3dbbd28
Autor:
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals
Externí odkaz:
https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706
Autor:
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental Disabilities Researc
Externí odkaz:
https://doaj.org/article/cb335a1bff7e48c685c43cab55795ad8
Publikováno v:
Journal of Water and Climate Change, Vol 15, Iss 2, Pp 733-746 (2024)
Climate change and global warming are expected to affect water resources management and planning, requiring adaptations to changing conditions. Therefore, it is very important, especially for decision-makers, to identify demand deficits due to less w
Externí odkaz:
https://doaj.org/article/238ce817cc7a4cb38f7f1d2cc52daedb
Autor:
Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E. Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D. Buttermore, Lee Barrett, Georg H. H. Borner, Alexandra K. Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect therapeutic targets for rare diseases. In this study, we developed a high-throughput screening assay to identify molecules that correct aberrant pro
Externí odkaz:
https://doaj.org/article/b52e18bceed849439f7ec10f0de5714b
Autor:
Wardiya Afshar-Saber, Cidi Chen, Nicole A. Teaney, Kristina Kim, Ziqin Yang, Federico M. Gasparoli, Darius Ebrahimi-Fakhari, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Phillip L. Pearl, Mustafa Sahin
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103424- (2024)
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is an ultra-rare autosomal recessive neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. Here, we report the generation and characterization of human induced
Externí odkaz:
https://doaj.org/article/3f29105d885d41a69adcd8bd9288c39b
Publikováno v:
Middle East Fertility Society Journal, Vol 28, Iss 1, Pp 1-6 (2023)
Abstract Background The aim of this study was to evaluate the effectiveness of current ovarian reserve tests in unexplained infertile cases. Material and methods This case–control study was conducted on 70 unexplained infertile women who were inclu
Externí odkaz:
https://doaj.org/article/dbc73c342dee49f3b51e7050957bfec3