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 |
0.533 |
|
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 |
0.326 |
|
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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