Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

60 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV; University of Washington Centre for Mendelian Genomics (UW-CMG); Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M; Genomics England Research Consortium; Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A. Al-Jawahiri R, et al. Among authors: kou i. Genet Med. 2022 Jun;24(6):1261-1273. doi: 10.1016/j.gim.2022.02.013. Epub 2022 Mar 24. Genet Med. 2022. PMID: 35341651 Free PMC article.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS; DDD Collaboration; Kühl SJ, Kini U, McNeill A. Hempel A, et al. Among authors: kou i. J Med Genet. 2016 Mar;53(3):152-62. doi: 10.1136/jmedgenet-2015-103393. Epub 2015 Nov 5. J Med Genet. 2016. PMID: 26543203 Free PMC article.
De novo SOX11 mutations cause Coffin-Siris syndrome.
Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N. Tsurusaki Y, et al. Among authors: kou i. Nat Commun. 2014 Jun 2;5:4011. doi: 10.1038/ncomms5011. Nat Commun. 2014. PMID: 24886874 Free article.
Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine.
Nakajima M, Kou I, Ohashi H; Genetic Study Group of the Investigation Committee on the Ossification of Spinal Ligaments; Ikegawa S. Nakajima M, et al. Among authors: kou i. Am J Hum Genet. 2016 Jul 7;99(1):202-7. doi: 10.1016/j.ajhg.2016.05.018. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374772 Free PMC article.
Expression and regulation of the osteoarthritis-associated protein asporin.
Kou I, Nakajima M, Ikegawa S. Kou I, et al. J Biol Chem. 2007 Nov 2;282(44):32193-9. doi: 10.1074/jbc.M706262200. Epub 2007 Sep 5. J Biol Chem. 2007. PMID: 17804408 Free article.
Previously, we showed that asporin can inhibit transforming growth factor-beta1 (TGF-beta1)-mediated expression of cartilage matrix genes and chondrogenesis in vitro (Kizawa, H., Kou, I., Iida, A., Sudo, A., Miyamoto, Y., Fukuda, A., Mabuchi, A., Kotani, A., Kawakam …
Previously, we showed that asporin can inhibit transforming growth factor-beta1 (TGF-beta1)-mediated expression of cartilage matrix genes an …
Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst.
Ogura Y, Miyake N, Kou I, Iida A, Nakajima M, Takeda K, Fujibayashi S, Shiina M, Okada E, Toyama Y, Iwanami A, Ishii K, Ogata K, Asahara H, Matsumoto N, Nakamura M, Matsumoto M, Ikegawa S. Ogura Y, et al. Among authors: kou i. PLoS One. 2015 Nov 6;10(11):e0142126. doi: 10.1371/journal.pone.0142126. eCollection 2015. PLoS One. 2015. PMID: 26545093 Free PMC article.
Response to Lefebvre et al.
Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group; Nakamura M, Matsumoto M, Watanabe K, Ikegawa S. Takeda K, et al. Among authors: kou i. Clin Genet. 2017 Nov;92(5):563-564. doi: 10.1111/cge.13011. Clin Genet. 2017. PMID: 28990171
60 results