Ohtake A - Search Results

1

Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions.

Higuchi T, Kobayashi M, Ogata J, Kaneshiro E, Shimada Y, Kobayashi H, Eto Y, Maeda S, Ohtake A, Ida H, Ohashi T. Higuchi T, et al. Among authors: ohtake a. JIMD Rep. 2016;30:63-72. doi: 10.1007/8904_2015_475. Epub 2016 Jun 3. JIMD Rep. 2016. PMID: 27255140 Free PMC article.

2

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C. Kopajtich R, et al. Among authors: ohtake a. Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14. Am J Hum Genet. 2016. PMID: 27426735 Free PMC article.

3

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.

Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, Yamashita Y, Kishita Y, Nakachi Y, Kohda M, Tokuzawa Y, Mizuno Y, Moriyama Y, Kato H, Okazaki Y. Ohtake A, et al. Biochim Biophys Acta. 2014 Apr;1840(4):1355-9. doi: 10.1016/j.bbagen.2014.01.025. Epub 2014 Jan 24. Biochim Biophys Acta. 2014. PMID: 24462578 Free article. Review.

4

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.

Borna NN, Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Tokuzawa Y, Kohda M, Nyuzuki H, Yamashita-Sugahara Y, Nasu T, Takeda A, Murayama K, Ohtake A, Okazaki Y. Borna NN, et al. Among authors: ohtake a. J Hum Genet. 2017 Apr;62(5):539-547. doi: 10.1038/jhg.2016.165. Epub 2017 Jan 26. J Hum Genet. 2017. PMID: 28123175

5

Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Sawada T, Kido J, Sugawara K, Matsumoto S, Takada F, Tsuboi K, Ohtake A, Endo F, Nakamura K. Sawada T, et al. Among authors: ohtake a. Mol Genet Genomic Med. 2020 Nov;8(11):e1502. doi: 10.1002/mgg3.1502. Epub 2020 Oct 5. Mol Genet Genomic Med. 2020. PMID: 33016649 Free PMC article.

6

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.

Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Fushimi T, Shimura M, Kohda M, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: ohtake a. Sci Rep. 2021 May 27;11(1):11123. doi: 10.1038/s41598-021-90196-5. Sci Rep. 2021. PMID: 34045482 Free PMC article.

7

Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency.

Yamamoto S, Abe H, Kohgo T, Ogawa A, Ohtake A, Hayashibe H, Sakuraba H, Suzuki Y, Aramaki S, Takayanagi M, Hasegawa S, Niimi H. Yamamoto S, et al. Among authors: ohtake a. Hum Genet. 1996 Jul;98(1):116-8. doi: 10.1007/s004390050170. Hum Genet. 1996. PMID: 8682496

8

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

Sakamoto O, Ohura T, Murayama K, Ohtake A, Harashima H, Abukawa D, Takeyama J, Haginoya K, Miyabayashi S, Kure S. Sakamoto O, et al. Among authors: ohtake a. Pediatr Int. 2011 Dec;53(6):921-5. doi: 10.1111/j.1442-200X.2011.03412.x. Pediatr Int. 2011. PMID: 21639866

9

Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.

Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta KR, Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: ohtake a. Hum Mutat. 2021 Nov;42(11):1422-1428. doi: 10.1002/humu.24274. Epub 2021 Sep 2. Hum Mutat. 2021. PMID: 34405929

10

Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells.

Kogo T, Satoh Y, Kanazawa M, Yamamoto S, Takayanagi M, Ohtake A, Mori M, Niimi H. Kogo T, et al. Among authors: ohtake a. J Hum Genet. 1998;43(1):54-8. doi: 10.1007/s100380050037. J Hum Genet. 1998. PMID: 9609999

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