Matsubara Y - Search Results

1

Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.

Nakano E, Masamune A, Niihori T, Kume K, Hamada S, Aoki Y, Matsubara Y, Shimosegawa T. Nakano E, et al. Among authors: matsubara y. Dig Dis Sci. 2015 May;60(5):1297-307. doi: 10.1007/s10620-014-3476-9. Epub 2014 Dec 10. Dig Dis Sci. 2015. PMID: 25492507

2

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashima S, Kato F, Fukami M, Aoki Y, Matsubara Y. Ogata T, et al. Among authors: matsubara y. PLoS One. 2014 Mar 17;9(3):e91598. doi: 10.1371/journal.pone.0091598. eCollection 2014. PLoS One. 2014. PMID: 24637876 Free PMC article.

3

Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.

Nakano E, Geisz A, Masamune A, Niihori T, Hamada S, Kume K, Kakuta Y, Aoki Y, Matsubara Y, Ebert K, Ludwig M, Braun M, Groneberg DA, Shimosegawa T, Sahin-Tóth M, Witt H. Nakano E, et al. Among authors: matsubara y. Am J Physiol Gastrointest Liver Physiol. 2015 Oct 15;309(8):G688-94. doi: 10.1152/ajpgi.00241.2015. Epub 2015 Aug 27. Am J Physiol Gastrointest Liver Physiol. 2015. PMID: 26316592 Free PMC article.

4

Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.

Masamune A, Kotani H, Sörgel FL, Chen JM, Hamada S, Sakaguchi R, Masson E, Nakano E, Kakuta Y, Niihori T, Funayama R, Shirota M, Hirano T, Kawamoto T, Hosokoshi A, Kume K, Unger L, Ewers M, Laumen H, Bugert P, Mori MX, Tsvilovskyy V, Weißgerber P, Kriebs U, Fecher-Trost C, Freichel M, Diakopoulos KN, Berninger A, Lesina M, Ishii K, Itoi T, Ikeura T, Okazaki K, Kaune T, Rosendahl J, Nagasaki M, Uezono Y, Algül H, Nakayama K, Matsubara Y, Aoki Y, Férec C, Mori Y, Witt H, Shimosegawa T. Masamune A, et al. Among authors: matsubara y. Gastroenterology. 2020 May;158(6):1626-1641.e8. doi: 10.1053/j.gastro.2020.01.005. Epub 2020 Jan 10. Gastroenterology. 2020. PMID: 31930989

5

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y. Kamada F, et al. Among authors: matsubara y. J Hum Genet. 2006;51(5):455-460. doi: 10.1007/s10038-006-0384-7. Epub 2006 Apr 5. J Hum Genet. 2006. PMID: 16596322

6

[Human development and the RAS/MAPK pathway].

Aoki Y, Matsubara Y. Aoki Y, et al. Among authors: matsubara y. Seikagaku. 2007 Jan;79(1):34-8. Seikagaku. 2007. PMID: 17319511 Review. Japanese. No abstract available.

7

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S. Kamada F, et al. Among authors: matsubara y. J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132. Epub 2010 Nov 4. J Hum Genet. 2011. PMID: 21048783

8

Ras/MAPK syndromes and childhood hemato-oncological diseases.

Aoki Y, Matsubara Y. Aoki Y, et al. Among authors: matsubara y. Int J Hematol. 2013 Jan;97(1):30-6. doi: 10.1007/s12185-012-1239-y. Epub 2012 Dec 19. Int J Hematol. 2013. PMID: 23250860 Review.

9

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y. Izumi R, et al. Among authors: matsubara y. J Hum Genet. 2013 May;58(5):259-66. doi: 10.1038/jhg.2013.9. Epub 2013 Feb 28. J Hum Genet. 2013. PMID: 23446887

10

Sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleoside/nucleotide analog treatment detected by deep sequencing.

Ninomiya M, Kondo Y, Niihori T, Nagashima T, Kogure T, Kakazu E, Kimura O, Aoki Y, Matsubara Y, Shimosegawa T. Ninomiya M, et al. Among authors: matsubara y. Hepatol Res. 2014 Jun;44(6):678-84. doi: 10.1111/hepr.12168. Epub 2013 Jun 25. Hepatol Res. 2014. PMID: 23701433

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