Indo Y - Search Results

1

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I. Indo Y, et al. Nat Genet. 1996 Aug;13(4):485-8. doi: 10.1038/ng0896-485. Nat Genet. 1996. PMID: 8696348 Free article.

2

Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor.

Indo Y, Mardy S, Tsuruta M, Karim MA, Matsuda I. Indo Y, et al. Jpn J Hum Genet. 1997 Jun;42(2):343-51. doi: 10.1007/BF02766957. Jpn J Hum Genet. 1997. PMID: 9290260 Free article.

3

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y. Tsuruta M, et al. Among authors: indo y. J Hum Genet. 1998;43(2):91-100. doi: 10.1007/s100380050047. J Hum Genet. 1998. PMID: 9621512

4

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y. Mardy S, et al. Among authors: indo y. Am J Hum Genet. 1999 Jun;64(6):1570-9. doi: 10.1086/302422. Am J Hum Genet. 1999. PMID: 10330344 Free PMC article.

5

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.

Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y. Miura Y, et al. Among authors: indo y. Hum Genet. 2000 Jan;106(1):116-24. doi: 10.1007/s004390051018. Hum Genet. 2000. PMID: 10982191 Free article.

6

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.

Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y. Miura Y, et al. Among authors: indo y. Hum Genet. 2000 Sep;107(3):205-9. doi: 10.1007/s004390000369. Hum Genet. 2000. PMID: 11071380 Free article.

7

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.

Mardy S, Miura Y, Endo F, Matsuda I, Indo Y. Mardy S, et al. Among authors: indo y. Hum Mol Genet. 2001 Feb 1;10(3):179-88. doi: 10.1093/hmg/10.3.179. Hum Mol Genet. 2001. PMID: 11159935 Free article.

8

Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.

Nobukuni Y, Mitsubuchi H, Ohta K, Akaboshi I, Indo Y, Endo F, Matsuda I. Nobukuni Y, et al. Among authors: indo y. J Inherit Metab Dis. 1992;15(5):827-33. doi: 10.1007/BF01800029. J Inherit Metab Dis. 1992. PMID: 1434524 No abstract available.

9

[Recent progress in molecular biology of inherited tubular transport abnormalities].

Indo Y, Matsuda I. Indo Y, et al. Nihon Rinsho. 1992 Dec;50(12):3086-92. Nihon Rinsho. 1992. PMID: 1491459 Review. Japanese.

10

Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.

Mitsubuchi H, Nobukuni Y, Akaboshi I, Indo Y, Endo F, Matsuda I. Mitsubuchi H, et al. Among authors: indo y. J Clin Invest. 1991 Apr;87(4):1207-11. doi: 10.1172/JCI115120. J Clin Invest. 1991. PMID: 2010537 Free PMC article.

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