Yasuno K - Search Results

1

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.

Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S, Matsumoto S, Tabuena MD, Maranon E, Dantes M, Lee LV, Ogasawara K, Tooyama I, Akatsu H, Nishimura M, Tamiya G. Makino S, et al. Among authors: yasuno k. Am J Hum Genet. 2007 Mar;80(3):393-406. doi: 10.1086/512129. Epub 2007 Jan 23. Am J Hum Genet. 2007. PMID: 17273961 Free PMC article.

2

Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity.

Maeda K, Kaji R, Yasuno K, Jambaldorj J, Nodera H, Takashima H, Nakagawa M, Makino S, Tamiya G. Maeda K, et al. Among authors: yasuno k. J Hum Genet. 2007;52(11):907-914. doi: 10.1007/s10038-007-0193-7. Epub 2007 Oct 2. J Hum Genet. 2007. PMID: 17906970

3

Glutathione-S-transferase-1 and interleukin-1beta gene polymorphisms in Japanese patients with Parkinson's disease.

Nishimura M, Kuno S, Kaji R, Yasuno K, Kawakami H. Nishimura M, et al. Among authors: yasuno k. Mov Disord. 2005 Jul;20(7):901-2. doi: 10.1002/mds.20477. Mov Disord. 2005. PMID: 15834859

4

Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia.

Yasuno K, Ando S, Misumi S, Makino S, Kulski JK, Muratake T, Kaneko N, Amagane H, Someya T, Inoko H, Suga H, Kanemoto K, Tamiya G. Yasuno K, et al. Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):250-3. doi: 10.1002/ajmg.b.30443. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17066476

5

Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms.

Akiyama K, Narita A, Nakaoka H, Cui T, Takahashi T, Yasuno K, Tajima A, Krischek B, Yamamoto K, Kasuya H, Hata A, Inoue I. Akiyama K, et al. Among authors: yasuno k. J Hum Genet. 2010 Oct;55(10):656-61. doi: 10.1038/jhg.2010.82. Epub 2010 Jul 8. J Hum Genet. 2010. PMID: 20613766

6

METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.

Caglayan AO, Aktar F, Bilguvar K, Baranoski JF, Akgumus GT, Harmanci AS, Erson-Omay EZ, Yasuno K, Caksen H, Gunel M. Caglayan AO, et al. Among authors: yasuno k. J Hum Genet. 2021 Feb;66(2):215-218. doi: 10.1038/s10038-020-0820-0. Epub 2020 Aug 6. J Hum Genet. 2021. PMID: 32764695 Free PMC article.

7

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. Çağlayan AO, et al. Among authors: yasuno k. J Hum Genet. 2016 May;61(5):395-403. doi: 10.1038/jhg.2015.160. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740239 Free PMC article.

8

Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas.

Clark VE, Harmancı AS, Bai H, Youngblood MW, Lee TI, Baranoski JF, Ercan-Sencicek AG, Abraham BJ, Weintraub AS, Hnisz D, Simon M, Krischek B, Erson-Omay EZ, Henegariu O, Carrión-Grant G, Mishra-Gorur K, Durán D, Goldmann JE, Schramm J, Goldbrunner R, Piepmeier JM, Vortmeyer AO, Günel JM, Bilgüvar K, Yasuno K, Young RA, Günel M. Clark VE, et al. Among authors: yasuno k. Nat Genet. 2016 Oct;48(10):1253-9. doi: 10.1038/ng.3651. Epub 2016 Aug 22. Nat Genet. 2016. PMID: 27548314 Free PMC article.

9

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çağlayan AO, Kaymakçalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG. Li H, et al. Among authors: yasuno k. Am J Hum Genet. 2016 Aug 4;99(2):501-10. doi: 10.1016/j.ajhg.2016.07.004. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453578 Free PMC article.

10

Genome-wide association study of intracranial aneurysm identifies three new risk loci.

Yasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok YM, Niemelä M, Tajima A, von und zu Fraunberg M, Dóczi T, Wirjatijasa F, Hata A, Blasco J, Oszvald A, Kasuya H, Zilani G, Schoch B, Singh P, Stüer C, Risselada R, Beck J, Sola T, Ricciardi F, Aromaa A, Illig T, Schreiber S, van Duijn CM, van den Berg LH, Perret C, Proust C, Roder C, Ozturk AK, Gaál E, Berg D, Geisen C, Friedrich CM, Summers P, Frangi AF, State MW, Wichmann HE, Breteler MM, Wijmenga C, Mane S, Peltonen L, Elio V, Sturkenboom MC, Lawford P, Byrne J, Macho J, Sandalcioglu EI, Meyer B, Raabe A, Steinmetz H, Rüfenacht D, Jääskeläinen JE, Hernesniemi J, Rinkel GJ, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Yasuno K, et al. Nat Genet. 2010 May;42(5):420-5. doi: 10.1038/ng.563. Epub 2010 Apr 4. Nat Genet. 2010. PMID: 20364137 Free PMC article.

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