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Results: 1-24 |
Results: 24
Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRK4 (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency
Authors: Indo, Y Mardy, S Miura, Y Moosa, A Ismail, EAR Toscano, E Andria, G Pavone, V Brown, DL Brooks, A Endo, F Matsuda, I
Citation: Y. Indo et al., Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRK4 (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency, HUM MUTAT, 18(4), 2001, pp. 308-318
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor
Authors: Mardy, S Miura, Y Endo, F Matsuda, I Indo, Y
Citation: S. Mardy et al., Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor, HUM MOL GEN, 10(3), 2001, pp. 179-188
Improved superoxide-generating ability by interferon gamma due to splicingpattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene
Authors: Ishibashi, F Mizukami, T Kanegasaki, S Motoda, L Kakinuma, R Endo, F Nunoi, H
Citation: F. Ishibashi et al., Improved superoxide-generating ability by interferon gamma due to splicingpattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene, BLOOD, 98(2), 2001, pp. 436-441
A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency
Authors: Kikuchi, S Tanoue, A Endo, F Wakasugi, S Matsuo, N Tsujimoto, G
Citation: S. Kikuchi et al., A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency, J HUM GENET, 45(2), 2000, pp. 102-104
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and Hawkinsinuria
Authors: Tomoeda, K Awata, H Matsuura, T Matsuda, I Ploechl, E Milovac, T Boneh, A Scott, CR Danks, DH Endo, F
Citation: K. Tomoeda et al., Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and Hawkinsinuria, MOL GEN MET, 71(3), 2000, pp. 506-510
A mouse model of renal tubular injury of tyrosinemia type 1: Development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice
Authors: Sun, MS Hattori, S Kubo, S Awata, H Matsuda, I Endo, F
Citation: Ms. Sun et al., A mouse model of renal tubular injury of tyrosinemia type 1: Development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice, J AM S NEPH, 11(2), 2000, pp. 291-300
Otolith daily increment formation in laboratory reared larval and juvenilebluefin tuna Thunnus thynnus
Authors: Itoh, T Shiina, Y Tsuji, S Endo, F Tezuka, N
Citation: T. Itoh et al., Otolith daily increment formation in laboratory reared larval and juvenilebluefin tuna Thunnus thynnus, FISHERIES S, 66(5), 2000, pp. 834-839
Evaluation of persistence of ductus venosus with Tc-99m DTPA galactosyl human serum albumin liver scintigraphy and I-123 iodoamphetamine per-rectal portal scintigraphy
Authors: Kira, T Ikeda, S Sera, Y Tomiguchi, S Takahashi, M Uchino, T Endo, F
Citation: T. Kira et al., Evaluation of persistence of ductus venosus with Tc-99m DTPA galactosyl human serum albumin liver scintigraphy and I-123 iodoamphetamine per-rectal portal scintigraphy, ANN NUCL M, 14(3), 2000, pp. 213-216
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
Authors: 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
Citation: Y. Miura et al., 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, HUM GENET, 107(3), 2000, pp. 205-209
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency
Authors: Ishibashi, F Nunoi, H Endo, F Matsuda, I Kanegasaki, S
Citation: F. Ishibashi et al., Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency, HUM GENET, 106(5), 2000, pp. 473-481
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 (vol 106, pg 116, 2000)
Authors: Miura, Y Mardy, S Awaya, Y Nihei, K Endo, F Matsuda, I Indo, Y
Citation: Y. Miura et al., 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 (vol 106, pg 116, 2000), HUM GENET, 106(5), 2000, pp. 575-575
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
Authors: Miura, Y Mardy, S Awaya, Y Nihei, K Endo, F Matsuda, I Indo, Y
Citation: Y. Miura et al., 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, HUM GENET, 106(1), 2000, pp. 116-124
Membranoproliferative glomerulonephritis in congenital portosystemic shuntwithout liver cirrhosis
Authors: Karashima, S Hattori, S Nakazato, H Awata, H Seguchi, S Ikeda, S Sera, Y Endo, F
Citation: S. Karashima et al., Membranoproliferative glomerulonephritis in congenital portosystemic shuntwithout liver cirrhosis, CLIN NEPHR, 53(3), 2000, pp. 206-211
Ligation of HLA-DR molecules on B cells induces enhanced expression of IgMheavy chain genes in association with SyK activation
Authors: Tabata, H Matsuoka, T Endo, F Nishimura, Y Matsushita, S
Citation: H. Tabata et al., Ligation of HLA-DR molecules on B cells induces enhanced expression of IgMheavy chain genes in association with SyK activation, J BIOL CHEM, 275(45), 2000, pp. 34998-35005
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
Authors: Sperandeo, MP Bassi, MT Riboni, M Parenti, G Buoninconti, A Manzoni, M Incerti, B Larocca, MR Di Rocco, M Strisciuglio, P Dianzani, I Parini, R Candito, M Endo, F Ballabio, A Andria, G Sebastio, G Borsani, G
Citation: Mp. Sperandeo et al., Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance, AM J HU GEN, 66(1), 2000, pp. 92-99
Mass screening for Wilson's disease: Results and recommendations
Authors: Yamaguchi, Y Aoki, T Arashima, S Ooura, T Takada, G Kitagawa, T Shigematsu, Y Shimada, M Kobayashi, M Itou, M Endo, F
Citation: Y. Yamaguchi et al., Mass screening for Wilson's disease: Results and recommendations, PEDIATR INT, 41(4), 1999, pp. 405-408
Effects of astragali radix extract on carcinogenesis, cytokine production,and cytotoxicity in mice treated with a carcinogen, N-butyl-N '-butanolnitrosoamine
Authors: Kurashige, S Akuzawa, Y Endo, F
Citation: S. Kurashige et al., Effects of astragali radix extract on carcinogenesis, cytokine production,and cytotoxicity in mice treated with a carcinogen, N-butyl-N '-butanolnitrosoamine, CANCER INV, 17(1), 1999, pp. 30-35
Immunohistochemical determination of the Wilson Copper-transporting P-typeATPase in the brain tissues of the rat
Authors: Saito, T Okabe, M Hosokawa, T Kurasaki, M Hata, A Endo, F Nagano, K Matsuda, I Urakami, K Saito, K
Citation: T. Saito et al., Immunohistochemical determination of the Wilson Copper-transporting P-typeATPase in the brain tissues of the rat, NEUROSCI L, 266(1), 1999, pp. 13-16
Reversibility of hyperintense globus pallidus on T1-weighted MRI followingsurgery for a portosystemic shunt in an 8-year old girl
Authors: Ikeda, S Sera, Y Yoshida, M Ohshiro, H Uchino, S Seguchi, S Endo, F
Citation: S. Ikeda et al., Reversibility of hyperintense globus pallidus on T1-weighted MRI followingsurgery for a portosystemic shunt in an 8-year old girl, PEDIAT RAD, 29(6), 1999, pp. 449-450
Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria
Authors: Nakazato, H Yoshimuta, J Karashima, S Matsumoto, S Endo, F Matsuda, I Hattori, S
Citation: H. Nakazato et al., Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria, KIDNEY INT, 55(1), 1999, pp. 63-70
The long-term prognosis of congenital portosystemic venous shunt
Authors: Uchino, T Matsuda, I Endo, F
Citation: T. Uchino et al., The long-term prognosis of congenital portosystemic venous shunt, J PEDIAT, 135(2), 1999, pp. 254-256
Surgical indications for patients with hyperammonemia
Authors: Ikeda, S Sera, Y Ohshiro, H Uchino, S Uchino, T Endo, F
Citation: S. Ikeda et al., Surgical indications for patients with hyperammonemia, J PED SURG, 34(6), 1999, pp. 1012-1015
Successful coil embolization in an infant with congenital intrahepatic portosystemic shunts
Authors: Ikeda, S Sera, Y Yoshida, M Izaki, T Uchino, S Endo, F Ohmuraya, M Beppu, T
Citation: S. Ikeda et al., Successful coil embolization in an infant with congenital intrahepatic portosystemic shunts, J PED SURG, 34(6), 1999, pp. 1031-1032
Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor
Authors: Mardy, S Miura, Y Endo, F Matsuda, I Sztriha, L Frossard, P Moosa, A Ismail, EAR Macaya, A Andria, G Toscano, E Gibson, W Graham, GE Indo, Y
Citation: S. Mardy et al., Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor, AM J HU GEN, 64(6), 1999, pp. 1570-1579
Risultati: 1-24 |