Zobrazeno 1 - 10
of 136
pro vyhledávání: '"Hiroko Wakimoto"'
Autor:
Irina Zalivina, Temo Barwari, Xiaoke Yin, Sarah R. Langley, Javier Barallobre-Barreiro, Hiroko Wakimoto, Anna Zampetaki, Manuel Mayr, Metin Avkiran, Seda Eminaga
Publikováno v:
Journal of Molecular and Cellular Cardiology Plus, Vol 6, Iss , Pp 100056- (2023)
Background: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disorder, characterized by cardiomyocyte hypertrophy, cardiomyocyte disarray and fibrosis, which has a prevalence of ∼1: 200–500 and predisposes individuals to heart f
Externí odkaz:
https://doaj.org/article/b8223816a67346999e77b33054cf0c71
Autor:
Yoichiro Kawamura, Lingyang Hua, Alessandra Gurtner, Ego Wong, Juri Kiyokawa, Nadia Shah, Joshua Gorham, Hiroko Wakimoto, Samuel D. Rabkin, Robert L. Martuza, Hiroaki Wakimoto
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 155, Iss , Pp 113843- (2022)
Approximately 20% of meningiomas are not benign (higher grade) and tend to relapse after surgery and radiation therapy. Malignant (anaplastic) meningioma (MM) is a minor subset of high-grade meningioma that is lethal with no effective treatment optio
Externí odkaz:
https://doaj.org/article/fc9d822a884f4981a7d5dd943c03485e
Autor:
Ronny Alcalai, Michael Arad, Hiroko Wakimoto, Dor Yadin, Joshua Gorham, Libin Wang, Elia Burns, Barry J. Maron, William C. Roberts, Tetsuo Konno, David A. Conner, Antonio R. Perez‐Atayde, Jon G. Seidman, Christine E. Seidman
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 17 (2021)
Background Human mutations in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene can cause a multisystem Danon disease or a primary cardiomyopathy characterized by massive hypertrophy, conduction system abnormalities, and malignan
Externí odkaz:
https://doaj.org/article/beaa5a868d0a4b8aa541598c15edec0b
Autor:
Kenji Onoue, Hiroko Wakimoto, Jiangming Jiang, Michael Parfenov, Steven DePalma, David Conner, Joshua Gorham, David McKean, Jonathan G. Seidman, Christine E. Seidman, Yoshihiko Saito
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
LMNA is one of the leading causative genes of genetically inherited dilated cardiomyopathy (DCM). Unlike most DCM-causative genes, which encode sarcomeric or sarcomere-related proteins, LMNA encodes nuclear envelope proteins, lamin A and C, and does
Externí odkaz:
https://doaj.org/article/0d89c6afb09d4627acf5a4a300eec9b8
Autor:
Jian-Fang Ning, Monica Stanciu, Melissa R. Humphrey, Joshua Gorham, Hiroko Wakimoto, Reiko Nishihara, Jacqueline Lees, Lee Zou, Robert L. Martuza, Hiroaki Wakimoto, Samuel D. Rabkin
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-18 (2019)
PARP inhibitors are mainly used to treat BRCA1/2 mutated cancers. Here, the authors show that MYC amplified glioblastomas are sensitive to PARP inhibition due to CDK18 repression, which impairs ATR regulated homologous recombination repair, and that
Externí odkaz:
https://doaj.org/article/403bcdc87a4246559e313ab4b0cb3355
Autor:
J. Travis Hinson, Anant Chopra, Andre Lowe, Calvin C. Sheng, Rajat M. Gupta, Rajarajan Kuppusamy, John O'Sullivan, Glenn Rowe, Hiroko Wakimoto, Joshua Gorham, Kehan Zhang, Kiran Musunuru, Robert E. Gerszten, Sean M. Wu, Christopher S. Chen, Jonathan G. Seidman, Christine E. Seidman
Publikováno v:
Cell Reports, Vol 17, Iss 12, Pp 3292-3304 (2016)
AMP-activated protein kinase (AMPK) is a metabolic enzyme that can be activated by nutrient stress or genetic mutations. Missense mutations in the regulatory subunit, PRKAG2, activate AMPK and cause left ventricular hypertrophy, glycogen accumulation
Externí odkaz:
https://doaj.org/article/8a8d917c3fe94409bb77320752abdbde
Autor:
David M. McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua Gorham, Steven R. DePalma, James S. Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P. Lifton, Wendy K. Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J. Sharp, Christine E. Seidman, Bruce D. Gelb, J. G. Seidman
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-9 (2016)
Congenital heart disease (CHD) is a disorder that occurs in ∼1% of live births. Here the authors describe a genome-wide allele-specific expression analyses in CHD patients, identifying five new genes involved in CHD and showing that paternally-expr
Externí odkaz:
https://doaj.org/article/b181fb4180d74c2d91f9090c30c74f4a
Autor:
J. Travis Hinson, Anant Chopra, Andre Lowe, Calvin C. Sheng, Rajat M. Gupta, Rajarajan Kuppusamy, John O’Sullivan, Glenn Rowe, Hiroko Wakimoto, Joshua Gorham, Michael A. Burke, Kehan Zhang, Kiran Musunuru, Robert E. Gerszten, Sean M. Wu, Christopher S. Chen, Jonathan G. Seidman, Christine E. Seidman
Publikováno v:
Cell Reports, Vol 19, Iss 11, p 2410 (2017)
Externí odkaz:
https://doaj.org/article/a55d9725f02a4a78971d08e8db75c07c
Autor:
Sabine M Hölter, Mary Stromberg, Marina Kovalenko, Lillian Garrett, Lisa Glasl, Edith Lopez, Jolene Guide, Alexander Götz, Wolfgang Hans, Lore Becker, Birgit Rathkolb, Jan Rozman, Anja Schrewed, Martin Klingenspor, Thomas Klopstock, Holger Schulz, Eckhard Wolf, Wolfgang Wursta, Tammy Gillis, Hiroko Wakimoto, Jonathan Seidman, Marcy E MacDonald, Susan Cotman, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Jong-Min Lee, Vanessa C Wheeler
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e80923 (2013)
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in the HTT gene encoding huntingtin. The disease has an insidious course, typically progressing over 10-15 years until
Externí odkaz:
https://doaj.org/article/57b263b8d55c4fe881fd6b6ee0978b4a
Autor:
Kasper Lage, Kjeld Møllgård, Steven Greenway, Hiroko Wakimoto, Joshua M Gorham, Christopher T Workman, Eske Bendsen, Niclas T Hansen, Olga Rigina, Francisco S Roque, Cornelia Wiese, Vincent M Christoffels, Amy E Roberts, Leslie B Smoot, William T Pu, Patricia K Donahoe, Niels Tommerup, Søren Brunak, Christine E Seidman, Jonathan G Seidman, Lars A Larsen
Publikováno v:
Molecular Systems Biology, Vol 6, Iss 1, Pp n/a-n/a (2010)
Aberrant organ development is associated with a wide spectrum of disorders, from schizophrenia to congenital heart disease, but systems‐level insight into the underlying processes is very limited. Using heart morphogenesis as general model for diss
Externí odkaz:
https://doaj.org/article/a8fa2146859749fd8dbcf313b9364bb1