Tomohiro Ishii - Publications

National Center of Neurology and Psychiatry, Tokyo, Kodaira-shi, Tōkyō-to, Japan 
ALS, neurodegenerative disease

26 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T. Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited. The Journal of Clinical Endocrinology and Metabolism. PMID 32835366 DOI: 10.1210/Clinem/Dgaa557  0.311
2019 Ishii T, Hori N, Amano N, Aya M, Shibata H, Katsumata N, Hasegawa T. Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review. Journal of the Endocrine Society. 3: 1367-1374. PMID 31286101 DOI: 10.1210/Js.2019-00086  0.347
2019 Sasaki G, Ishii T, Hori N, Amano N, Homma K, Sato S, Hasegawa T. Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency. Endocrine Journal. PMID 31178538 DOI: 10.1507/Endocrj.Ej19-0111  0.3
2019 Ishii T, Muramatsu R. [Roles of type A pericytes in functional recovery from spinal cord injury]. Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica. 153: 249. PMID 31092759 DOI: 10.1254/Fpj.153.249  0.536
2018 Sakaguchi A, Yamashita Y, Ishii T, Uehara T, Kosaki K, Takahashi T, Takenouchi T. Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder. European Journal of Medical Genetics. PMID 30213762 DOI: 10.1016/J.Ejmg.2018.09.004  0.313
2018 Moriwaki Y, Ohno Y, Ishii T, Takamura Y, Kita Y, Watabe K, Sango K, Tsuji S, Misawa H. SIMPLE binds specifically to PI4P through SIMPLE-like domain and participates in protein trafficking in the trans-Golgi network and/or recycling endosomes. Plos One. 13: e0199829. PMID 29953492 DOI: 10.1371/Journal.Pone.0199829  0.647
2018 Ichihashi Y, Takagi M, Ishii T, Watanabe K, Nishimura G, Hasegawa T. Two novel mutations of in Japanese boys with pseudoachondroplasia. Human Genome Variation. 5: 12. PMID 29899997 DOI: 10.1038/S41439-018-0012-Z  0.317
2017 Uchida N, Amano N, Yamaoka Y, Uematsu A, Sekine Y, Suzuki M, Watanabe J, Nishimoto K, Mukai K, Fukuzawa R, Hasegawa T, Ishii T. A Novel Case of Somatic KCNJ5 Mutation in Pediatric-Onset Aldosterone-Producing Adenoma. Journal of the Endocrine Society. 1: 1056-1061. PMID 29264557 DOI: 10.1210/Js.2017-00210  0.313
2017 Yanagisawa H, Ishii T, Endo K, Kawakami E, Nagao K, Miyashita T, Akiyama K, Watabe K, Komatsu M, Yamamoto D, Eto Y. L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease. Scientific Reports. 7: 15944. PMID 29162837 DOI: 10.1038/S41598-017-15305-9  0.588
2017 Ishii T, Kawakami E, Endo K, Misawa H, Watabe K. Myelinating cocultures of rodent stem cell line-derived neurons and immortalized Schwann cells. Neuropathology : Official Journal of the Japanese Society of Neuropathology. PMID 28707715 DOI: 10.1111/Neup.12397  0.659
2017 Ishii T, Kawakami E, Endo K, Misawa H, Watabe K. Formation and spreading of TDP-43 aggregates in cultured neuronal and glial cells demonstrated by time-lapse imaging. Plos One. 12: e0179375. PMID 28599005 DOI: 10.1371/Journal.Pone.0179375  0.669
2016 Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, et al. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nature Genetics. PMID 27182967 DOI: 10.1038/Ng.3569  0.337
2015 Moriwaki Y, Takada K, Nagasaki T, Kubo N, Ishii T, Kose K, Kageyama T, Tsuji S, Kawashima K, Misawa H. IL-22/STAT3-Induced Increases in SLURP1 Expression within Psoriatic Lesions Exerts Antimicrobial Effects against Staphylococcus aureus. Plos One. 10: e0140750. PMID 26474319 DOI: 10.1371/Journal.Pone.0140750  0.528
2014 Mitsui T, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. American Journal of Medical Genetics. Part A. 164: 2529-34. PMID 25044890 DOI: 10.1002/Ajmg.A.36669  0.323
2014 Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T. A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. Pituitary. 17: 569-74. PMID 24346842 DOI: 10.1007/S11102-013-0546-5  0.319
2014 Watabe K, Akiyama K, Kawakami E, Ishii T, Endo K, Yanagisawa H, Sango K, Tsukamoto M. Adenoviral expression of TDP-43 and FUS genes and shRNAs for protein degradation pathways in rodent motoneurons in vitro and in vivo. Neuropathology : Official Journal of the Japanese Society of Neuropathology. 34: 83-98. PMID 23937386 DOI: 10.1111/Neup.12058  0.59
2013 Suwanai AS, Ishii T, Haruna H, Yamataka A, Narumi S, Fukuzawa R, Ogata T, Hasegawa T. A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression. Clinical Endocrinology. 78: 957-65. PMID 23095176 DOI: 10.1111/Cen.12054  0.303
2012 Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism. Plos One. 7: e46008. PMID 23029363 DOI: 10.1371/Journal.Pone.0046008  0.315
2010 Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T. A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene. Journal of Inherited Metabolic Disease. 33: S307-13. PMID 20652411 DOI: 10.1007/S10545-010-9168-5  0.325
2009 Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, et al. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. The Journal of Clinical Endocrinology and Metabolism. 94: 1723-31. PMID 19258400 DOI: 10.1210/Jc.2008-2816  0.323
2007 Narumi S, Amano N, Hachiya R, Ishii T, Hasegawa T. A novel mutation of androgen receptor gene in complete androgen insensitivity syndrome. Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society For Pediatric Endocrinology. 16: 59-61. PMID 24790346 DOI: 10.1297/Cpe.16.59  0.327
2002 Sasaki G, Ogata T, Ishii T, Hasegawa T, Sato S, Matsuo N. Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. American Journal of Medical Genetics. 110: 365-9. PMID 12116211 DOI: 10.1002/Ajmg.10447  0.301
2001 Ishii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T, Matsuo N. Micropenis and the AR Gene: mutation and CAG repeat-length analysis. The Journal of Clinical Endocrinology and Metabolism. 86: 5372-8. PMID 11701709 DOI: 10.1210/Jcem.86.11.7999  0.305
2001 Muroya K, Sasagawa I, Suzuki Y, Nakada T, Ishii T, Ogata T. Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis Molecular Human Reproduction. 7: 409-413. PMID 11331662 DOI: 10.1093/Molehr/7.5.409  0.316
2001 Tamai S, Tanaka Y, Kizu R, Ishii T, Muroya K, Sato S, Nishimura G, Matsuo N. Auxological and radiological manifestations of patients with hypochondroplasia negative for N540K mutation in fibroblast growth factor receptor 3 gene Clinical Pediatric Endocrinology. 10: 13-16. DOI: 10.1297/Cpe.10.13  0.314
2000 Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. The Journal of Clinical Endocrinology and Metabolism. 85: 2922-6. PMID 10946904 DOI: 10.1210/Jcem.85.8.6726  0.317
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