Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Eriko Nishi"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Rauch–Steindl syndrome (RAUST) is a very rare genetic syndrome caused by a pathogenic variant in NSD2 on chromosome 4p16.3. Although NSD2 was previously thought to be the major gene in Wolf–Hirschhorn syndrome (WHS), a contigu
Externí odkaz:
https://doaj.org/article/fd6a9b0e24244c0c98e780bcc465462c
Autor:
Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda, Shinobu Ida
Publikováno v:
Genes, Vol 15, Iss 3, p 314 (2024)
In newborn screening (NBS), it is important to consider the availability of multiplex assays or other tests that can be integrated into existing systems when attempting to implement NBS for new target diseases. Recent developments in innovative testi
Externí odkaz:
https://doaj.org/article/bf704783fb94441cbee567dd7e532f8c
Autor:
Misuzu Wakiya, Eriko Nishi, Shinnosuke Kawai, Kohei Yamada, Kazuhiro Katsumata, Ami Hirayasu, Yuta Itabashi, Ayumu Yamamoto
Publikováno v:
Open Biology, Vol 11, Iss 2 (2021)
Establishment of proper chromosome attachments to the spindle requires elimination of erroneous attachments, but the mechanism of this process is not fully understood. During meiosis I, sister chromatids attach to the same spindle pole (mono-oriented
Externí odkaz:
https://doaj.org/article/897f13ec90f5425b998a0e7d6a241c5d
Autor:
Kazuhiro Katsumata, Ami Hirayasu, Junpei Miyoshi, Eriko Nishi, Kento Ichikawa, Kazuki Tateho, Airi Wakuda, Hirotada Matsuhara, Ayumu Yamamoto
Publikováno v:
PLoS Genetics, Vol 12, Iss 9, p e1006304 (2016)
During meiotic prophase, telomeres cluster, forming the bouquet chromosome arrangement, and facilitate homologous chromosome pairing. In fission yeast, bouquet formation requires switching of telomere and centromere positions. Centromeres are located
Externí odkaz:
https://doaj.org/article/38f03ef0b3fa4be983d3fd172fde0b5d
Autor:
Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kawai
Publikováno v:
Clinical Pediatric Endocrinology; Apr2024, Vol. 33 Issue 2, p50-58, 9p
Autor:
Osamu, Machida, Keiko Yamamoto, Shimojima, Takashi, Shiihara, Satoshi, Akamine, Ryutaro, Kira, Yuiko, Hasegawa, Eriko, Nishi, Nobuhiko, Okamoto, Satoru, Nagata, Toshiyuki, Yamamoto
Publikováno v:
Intractable Rare Dis Res
Interstitial microdeletions in the proximal region of the long arm of chromosome 6 are rare. Herein we have reported 12 patients with developmental delays associated with interstitial microdeletions in 6q ranging from q12 to q22. The microdeletions w
Publikováno v:
Journal of Medical Genetics. 59:1241-1246
BackgroundTwo imprinting control centres,H19/IGF2:IG-differentialy methylated region (DMR) andKCNQ1OT1:TSS-DMR, reside on chromosome 11p15.5. Paternal deletions involving theKCNQ1OT1:TSS-DMR result in variable phenotypes, namely, normal phenotype, Si
Autor:
Tomokazu Kimizu, Shinobu Ida, Keisuke Oki, Morimasa Shima, Shizuka Nishimoto, Ken Nakajima, Tae Ikeda, Yukiko Mogami, Keiko Yanagihara, Keiko Matsuda, Eriko Nishi, Yuiko Hasegawa, Masatoshi Nozaki, Hiroshi Fujita, Akemi Irie, Toru Katayama, Nobuhiko Okamoto, Kohsuke Imai, Hisahide Nishio, Yasuhiro Suzuki
Publikováno v:
Brain and Development.
Autor:
Naomichi Matsumoto, Yuko Mishima, Hitoshi Osaka, Tomohiro Sakaguchi, Futoshi Sekiguchi, Noriko Miyake, Karin Kojima, Eriko Nishi, Nobuhiko Okamoto, Yuiko Hasegawa
Publikováno v:
Brain and Development. 43:1023-1028
Background Aromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of
Autor:
Eriko Nishi, Nobuhiko Okamoto, Tomoko Uehara, Tadashi Kaname, Yuiko Hasegawa, Kumiko Yanagi, Kimiko Ueda, Fuyuki Miya, Seiji Mizuno, Kenjiro Kosaki, Toshiki Takenouchi
Publikováno v:
American Journal of Medical Genetics Part A. 188:446-453
Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder caused by the heterozygous variants in exon 30 or 31 of CREBBP (CREB binding protein) gene mapped on 16p13.3. It is characterized by psychomotor delay, variable impairment of intellectual dis