Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Daniela Tiaki Uehara"'
Autor:
Daniela Tiaki Uehara, Tomoki Muramatsu, Senichi Ishii, Hidetsugu Suzuki, Kazuyuki Fukushima, Yasuhiro Arasaki, Tadayoshi Hayata, Johji Inazawa, Yoichi Ezura
Publikováno v:
JBMR Plus, Vol 7, Iss 9, Pp n/a-n/a (2023)
ABSTRACT Gorham–Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a so
Externí odkaz:
https://doaj.org/article/9e734213f4424fd696591ff7e90ae61b
Autor:
Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0181791 (2017)
The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with ponti
Externí odkaz:
https://doaj.org/article/361ca232e09d4b4c9d6b9d2bc565142d
Autor:
Daniela Tiaki Uehara
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.
A complexidade da fisiologia da audição resulta da participação e interação de produtos de grande número de genes, razão pela qual a surdez hereditária exibe enorme heterogeneidade genética. Estudos moleculares nas duas últimas décadas pe
Autor:
Atsushi Ishii, Keiji Moriyama, Kyoko Hirabayashi, Daniela Tiaki Uehara, Shinichi Hirose, Hidetoshi Abe, Johji Inazawa
Publikováno v:
Journal of Human Genetics. 64:1097-1106
Early-onset developmental and epileptic encephalopathy (DEE) is a group of devastating disorders that appear during the neonatal and infantile periods. Despite great progress in the discovery of genes leading to early-onset DEE, many cases with unexp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bc801a50bb084395f84111c11c01a17
https://doi.org/10.1038/s10038-019-0661-x
https://doi.org/10.1038/s10038-019-0661-x
Autor:
Sander Pajusalu, Inga Talvik, Raymond Y. Wang, Daniel L. Kastner, Achim Werner, Mohammed Abul Basar, Precilla D'Souza, Katrin Õunap, Yutaka Nishimura, Johji Inazawa, Ken Saida, Ellen Macnamara, David B. Beck, Anthony J. Asmar, Kristin W. Barañano, Hirotsugu Oda, Marlies Kempers, Weiyi Mu, Naomichi Matsumoto, Joann Bodurtha, Tomoki Kosho, Joyce J. Thompson, Pedro P. Rocha, Ivona Aksentijevich, Apratim Mitra, Magdalena Walkiewicz, Tomoko Tamada, Ryan K. Dale, Satoshi Okada, Daniela Tiaki Uehara, Noriko Miyake, Cynthia J. Tifft
Publikováno v:
Science Advances, 7, 4
Science Advances
Science Advances, 7
Science Advances
Science Advances, 7
Disease-causing mutations in a linkage-specific deubiquitylase provide insights into chromatin remodeling during embryogenesis.
Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. I
Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685f6090f52ead44cd34ca0941bfa4a1
https://hdl.handle.net/2066/230561
https://hdl.handle.net/2066/230561
Publikováno v:
Human genetics. 140(7)
Mutations in proteins involved in cell division and chromosome segregation, such as microtubule-regulating, centrosomal and kinetochore proteins, are associated with microcephaly and/or short stature. In particular, the kinetochore plays an essential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fcaf930b1aa32dc6d9bed5442a875fb
https://pubmed.ncbi.nlm.nih.gov/33721060
https://pubmed.ncbi.nlm.nih.gov/33721060
Autor:
Precilla D'Souza, Anthony J. Asmar, Daniela Tiaki Uehara, Weiyi Mu, Marlies Kempers, Tomoki Kosho, Ryan K. Dale, David B. Beck, Pedro P. Rocha, Cynthia J. Tifft, Naomichi Matsumoto, Ellen Macnamara, Apratim Mitra, Satoshi Okada, Noriko Miyake, Raymond Y. Wang, Ken Saida, Daniel L. Kastner, Magdalena Walkiewicz, Achim Werner, Yutaka Nishimura, Joann Bodurtha, Joyce J. Thompson, Johi Inazawa, Ivona Aksentijevich, Hirotsugu Oda, Mohammed Abul Basar, Kristin W. Barañano
Embryonic development occurs through commitment of pluripotent stem cells to differentiation programs that require highly coordinated changes in gene expression. Chromatin remodeling of gene regulatory elements is a critical component of how such cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0678ea873ddff870447d80f09bd3133
https://doi.org/10.1101/2020.01.23.917450
https://doi.org/10.1101/2020.01.23.917450
Autor:
Hitoshi Osaka, Daniela Tiaki Uehara, Nobuhiko Okamoto, Yasutsugu Chinen, Jun-ichi Takanashi, Johji Inazawa, Kousuke Tanimoto, Seiji Mizuno, Shinobu Fukumura, Shin Hayashi
Publikováno v:
PLoS ONE
PLoS ONE, Vol 12, Iss 8, p e0181791 (2017)
PLoS ONE, Vol 12, Iss 8, p e0181791 (2017)
The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with ponti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac7d9cb67222796ec3c226c0809b512
http://hdl.handle.net/20.500.12000/45639
http://hdl.handle.net/20.500.12000/45639
Autor:
Daniela Tiaki Uehara
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
A complexidade da fisiologia da audição resulta da participação e interação de produtos de grande número de genes, razão pela qual a surdez hereditária exibe enorme heterogeneidade genética. Estudos moleculares nas duas últimas décadas pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::162e5a83e37be9cb199876356d4a200f