未登录Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia
Sinasac, DS; Moriyama, M; Jalil, MA; Begum, L; Li, MX; Iijima, M; Horiuchi, M; Robinson, BH; Kobayashi, K; Saheki, T; Tsui, LC
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收藏A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome
Faiyaz-Ul-Haque, Muhammad; Zaidi, Syed H. E.; Al-Sanna, Nouriyah; Alswaid, Abdulrahman; Momenah, Tariq; Kaya, Namik; Al-Dayel, Fouad; Bouhoaigah, Issalm; Saliem, Mohammed; Tsui, Lap-Chee; Teebi, Ahmad S.
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收藏A systematic analysis of intronic sequences downstream of 5′ splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation
Aznarez, Isabel; Barash, Yoseph; Shai, Ofer; He, David; Zielenski, Julian; Tsui, Lap-Chee; Parkinson, John; Frey, Brendan J.; Rommens, Johanna M.; Blencowe, Benjamin J.
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收藏Citrin/Mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency
Saheki, Takeyori; Iijima, Mikio; Li, Meng Xian; Kobayashi, Keiko; Horiuchi, Masahisa; Ushikai, Miharu; Okumura, Fumihiko; Meng, Xiao Jian; Inoue, Ituro; Tajima, Atsushi; Moriyama, Mitsuaki; Eto, Kazuhiro; Kadowaki, Takashi; Sinasac, David S.; Tsui, Lap-Chee; Tsuji, Mihoko; Okano, Akira; Kobayashi, Tsuyoshi
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收藏Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
Wilschanski, Michael; Dupuis, Annie; Ellis, Lynda; Jarvi, Keith; Zielenski, Julian; Tullis, Elizabeth; Martin, Sheelagh; Corey, Mary; Tsui, Lap-Chee; Durie, Peter
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收藏Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice
Moriyama, M; Li, MX; Kobayashi, K; Sinasac, DS; Kannan, Y; Iijima, M; Horiuchi, M; Tsui, LC; Tanaka, M; Nakamura, Y; Saheki, T
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收藏The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
Bishop, MD; Freedman, SD; Zielenski, J; Ahmed, N; Dupuis, A; Martin, S; Ellis, L; Shea, J; Hopper, I; Corey, M; Kortan, P; Haber, G; Ross, C; Tzountzouris, J; Steele, L; Ray, PN; Tsui, LC; Durie, PR
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收藏A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1
Rafiq, MA; Faiyaz-ul-Haque, M; Din, MAU; Malik, S; Sohail, M; Anwar, M; Haque, S; Paterson, AD; Tsui, LC; Ahmad, W
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收藏Transcriptional activation of immediate-early gene ETR101 by human T-cell leukaemia virus type I Tax
Chen, L; Ma, SL; Li, B; Fink, T; Zachar, V; Takahashi, M; Cuttichia, J; Tsui, LC; Ebbesen, P; Liu, XD
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收藏The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
Kobayashi, K; Sinasac, DS; Iijima, M; Boright, AP; Begum, L; Lee, JR; Yasuda, T; Ikeda, S; Hirano, R; Terazono, H; Crackower, MA; Kondo, I; Tsui, LC; Scherer, SW; Saheki, T
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