Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 97

1.

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H.

Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104.

2.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S.

Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5.

PMID:
29507423
3.

Overexpression of Larp4B downregulates dMyc and reduces cell and organ sizes in Drosophila.

Funakoshi M, Tsuda M, Muramatsu K, Hatsuda H, Morishita S, Aigaki T.

Biochem Biophys Res Commun. 2018 Mar 4;497(2):762-768. doi: 10.1016/j.bbrc.2018.02.148. Epub 2018 Feb 17.

PMID:
29462618
4.

Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.

Udagawa T, Harita Y, Miura K, Mitsui J, Ode KL, Morishita S, Urae S, Kanda S, Kajiho Y, Tsurumi H, Ueda HR, Tsuji S, Saito A, Oka A.

Sci Rep. 2018 Feb 5;8(1):2351. doi: 10.1038/s41598-018-20731-4.

5.

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.

Tohnai G, Nakamura R, Sone J, Nakatochi M, Yokoi D, Katsuno M, Watanabe H, Watanabe H, Ito M, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Onodera O, Naruse H, Mitsui J, Takahashi Y, Goto J, Ishiura H, Morishita S, Yoshimura J, Doi K, Tsuji S, Nakashima K, Kaji R, Atsuta N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS).

Neurobiol Aging. 2018 Apr;64:158.e15-158.e19. doi: 10.1016/j.neurobiolaging.2017.12.005. Epub 2017 Dec 11.

PMID:
29398122
6.

Unlinking the methylome pattern from nucleotide sequence, revealed by large-scale in vivo genome engineering and methylome editing in medaka fish.

Cheung NKM, Nakamura R, Uno A, Kumagai M, Fukushima HS, Morishita S, Takeda H.

PLoS Genet. 2017 Dec 21;13(12):e1007123. doi: 10.1371/journal.pgen.1007123. eCollection 2017 Dec.

7.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.

Naruse H, Ishiura H, Mitsui J, Date H, Takahashi Y, Matsukawa T, Tanaka M, Ishii A, Tamaoka A, Hokkoku K, Sonoo M, Segawa M, Ugawa Y, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S.

Neurobiol Aging. 2018 Jan;61:255.e9-255.e16. doi: 10.1016/j.neurobiolaging.2017.08.030. Epub 2017 Sep 6.

PMID:
29033165
8.

Hypomethylated domain-enriched DNA motifs prepattern the accessible nucleosome organization in teleosts.

Nakamura R, Uno A, Kumagai M, Morishita S, Takeda H.

Epigenetics Chromatin. 2017 Sep 20;10(1):44. doi: 10.1186/s13072-017-0152-2.

9.

Complete fusion of a transposon and herpesvirus created the Teratorn mobile element in medaka fish.

Inoue Y, Saga T, Aikawa T, Kumagai M, Shimada A, Kawaguchi Y, Naruse K, Morishita S, Koga A, Takeda H.

Nat Commun. 2017 Sep 15;8(1):551. doi: 10.1038/s41467-017-00527-2.

10.

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

Kurihara M, Ishiura H, Sasaki T, Otsuka J, Hayashi T, Terao Y, Matsukawa T, Mitsui J, Kaneko J, Nishiyama K, Doi K, Yoshimura J, Morishita S, Shimizu J, Tsuji S.

Cerebellum. 2018 Apr;17(2):237-242. doi: 10.1007/s12311-017-0883-4.

PMID:
28895081
11.

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Ando M, Hashiguchi A, Okamoto Y, Yoshimura A, Hiramatsu Y, Yuan J, Higuchi Y, Mitsui J, Ishiura H, Umemura A, Maruyama K, Matsushige T, Morishita S, Nakagawa M, Tsuji S, Takashima H.

J Peripher Nerv Syst. 2017 Sep;22(3):191-199. doi: 10.1111/jns.12228. Epub 2017 Jul 30. Erratum in: J Peripher Nerv Syst. 2018 Jun;23(2):149-150.

12.

Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency.

Kawazu M, Kojima S, Ueno T, Totoki Y, Nakamura H, Kunita A, Qu W, Yoshimura J, Soda M, Yasuda T, Hama N, Saito-Adachi M, Sato K, Kohsaka S, Sai E, Ikemura M, Yamamoto S, Ogawa T, Fukayama M, Tada K, Seto Y, Morishita S, Hazama S, Shibata T, Yamashita Y, Mano H.

PLoS Genet. 2017 Jun 21;13(6):e1006853. doi: 10.1371/journal.pgen.1006853. eCollection 2017 Jun.

13.

Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing.

Eriguchi Y, Kuwabara H, Inai A, Kawakubo Y, Nishimura F, Kakiuchi C, Tochigi M, Ohashi J, Aoki N, Kato K, Ishiura H, Mitsui J, Tsuji S, Doi K, Yoshimura J, Morishita S, Shimada T, Furukawa M, Umekage T, Sasaki T, Kasai K, KanoMD PhD Y.

Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):712-723. doi: 10.1002/ajmg.b.32559. Epub 2017 Jun 13.

PMID:
28608572
14.

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.

Yamashita T, Mitsui J, Shimozawa N, Takashima S, Umemura H, Sato K, Takemoto M, Hishikawa N, Ohta Y, Matsukawa T, Ishiura H, Yoshimura J, Doi K, Morishita S, Tsuji S, Abe K.

J Neurol Sci. 2017 Apr 15;375:424-429. doi: 10.1016/j.jns.2017.02.058. Epub 2017 Feb 27.

PMID:
28320181
15.

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease.

Harigaya Y, Matsukawa T, Fujita Y, Mizushima K, Ishiura H, Mitsui J, Morishita S, Shoji M, Ikeda Y, Tsuji S.

Neurol Genet. 2017 Feb 24;3(2):e138. doi: 10.1212/NXG.0000000000000138. eCollection 2017 Apr. No abstract available.

16.

Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.

Matsukawa T, Koshi KM, Mitsui J, Bannai T, Kawabe M, Ishiura H, Terao Y, Shimizu J, Murayama K, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J.

J Neurol Sci. 2017 Jan 15;372:6-10. doi: 10.1016/j.jns.2016.11.009. Epub 2016 Nov 9.

PMID:
28017249
17.

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.

Udagawa T, Jo T, Yanagihara T, Shimizu A, Mitsui J, Tsuji S, Morishita S, Onai R, Miura K, Kanda S, Kajiho Y, Tsurumi H, Oka A, Hattori M, Harita Y.

Pediatr Nephrol. 2017 May;32(5):801-809. doi: 10.1007/s00467-016-3549-4. Epub 2016 Dec 10.

PMID:
27942854
18.

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.

Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H, Uechi T, Mitsui J, Ishiura H, Yoshimura J, Doi K, Kenmochi N, Morishita S, Nishino I, Tsuji S, Nunoi H.

J Hum Genet. 2017 Apr;62(4):473-480. doi: 10.1038/jhg.2016.149. Epub 2016 Dec 8.

PMID:
27928163
19.

Corrigendum: Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.

Yasuda T, Tsuzuki S, Kawazu M, Hayakawa F, Kojima S, Ueno T, Imoto N, Kohsaka S, Kunita A, Doi K, Sakura T, Yujiri T, Kondo E, Fujimaki K, Ueda Y, Aoyama Y, Ohtake S, Takita J, Sai E, Taniwaki M, Kurokawa M, Morishita S, Fukayama M, Kiyoi H, Miyazaki Y, Naoe T, Mano H.

Nat Genet. 2016 Nov 29;48(12):1591. doi: 10.1038/ng1216-1587a. No abstract available.

PMID:
27898077
20.

Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines.

Fujimori K, Tezuka T, Ishiura H, Mitsui J, Doi K, Yoshimura J, Tada H, Matsumoto T, Isoda M, Hashimoto R, Hattori N, Takahashi T, Morishita S, Tsuji S, Akamatsu W, Okano H.

Mol Brain. 2016 Oct 3;9(1):88.

Supplemental Content

Loading ...
Support Center