Search Results - "Inatomi, J"

Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma by IGARASHI, Takashi, INATOMI, Jun, NAKAMURA, Hajime, ENDOU, Hitoshi, SEKINE, Takashi, SEKI, George, SHIMADZU, Mitsunobu, TOZAWA, Fumiko, TAKESHIMA, Yasuhiro, TAKUMI, Toru, TAKAHASHI, Toshikazu, YOSHIKAWA, Norishige

“…Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease involving short stature, isolated pRTA, mental…”
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Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis by Usui, T, Hara, M, Satoh, H, Moriyama, N, Kagaya, H, Amano, S, Oshika, T, Ishii, Y, Ibaraki, N, Hara, C, Kunimi, M, Noiri, E, Tsukamoto, K, Inatomi, J, Kawakami, H, Endou, H, Igarashi, T, Goto, A, Fujita, T, Araie, M, Seki, G

“…Proximal renal tubular acidosis associated with ocular abnormalities such as band keratopathy, glaucoma, and cataracts is caused by mutations in the…”
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Chronic active Epstein-Barr virus infection successfully treated with allogeneic peripheral blood stem cell transplantation by Taketani, T, Kikuchi, A, Inatomi, J, Hanada, R, Kawaguchi, H, Ida, K, Oh-ishi, T, Arai, T, Kishimoto, H, Yamamoto, K

“…We report a pediatric case of CAEBV and T cell-based Hodgkin's-like disease successfully treated with allo PBSCT from an HLA-matched sibling. The diagnosis of…”
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Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state by Matsuyama, T, Awazu, M, Oikawa, T, Inatomi, J, Sekine, T, Igarashi, T

“…Dent's disease is an X-linked renal tubular disorder characterized by low-molecular-weight-proteinuria, hypercalciuria, nephrolithiasis and renal failure. The…”
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Effect of Mechanical Strain on Electric Conductance of Molecular Junctions by Inatomi, Junichi, Fujii, Shintaro, Marqués-González, Santiago, Masai, Hiroshi, Tsuji, Yasushi, Terao, Jun, Kiguchi, Manabu

“…Electromechanical properties of single molecular junctions are investigated using scanning tunneling microscopy based break junction method. Two types of…”
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Human L-type amino acid transporter 1 (LAT1): characterization of function and expression in tumor cell lines by Yanagida, Osamu, Kanai, Yoshikatsu, Chairoungdua, Arthit, Kim, Do Kyung, Segawa, Hiroko, Nii, Tomoko, Cha, Seok Ho, Matsuo, Hirotaka, Fukushima, Jun-ichi, Fukasawa, Yoshiki, Tani, Yoshiko, Taketani, Yutaka, Uchino, Hiroshi, Kim, Ju Young, Inatomi, Jun, Okayasu, Isao, Miyamoto, Ken-ichi, Takeda, Eiji, Goya, Tomoyuki, Endou, Hitoshi

“…System L is a major nutrient transport system responsible for the transport of large neutral amino acids including several essential amino acids. We previously…”
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Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities by HORITA, Shoko, YAMADA, Hideomi, SHIMADZU, Mitsunobu, SEKI, George, FUJITA, Toshiro, INATOMI, Jun, MORIYAMA, Nobuo, SEKINE, Takashi, IGARASHI, Takashi, ENDO, Yoko, DASOUKI, Majed, EKIM, Mesiha, AL-GAZALI, Lihadh

“…Mutations in the Na+-HCO3- co-transporter (NBC1) cause permanent proximal renal tubular acidosis (pRTA) with ocular abnormalities. However, little has been…”
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Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis by IGARASHI, Takashi, SEKINE, Takashi, INATOMI, Jun, SEKI, George

“…Proximal renal tubular acidosis (pRTA) results from an impairment of bicarbonate (HCO(3)(-)) reabsorption in the renal proximal tubules and is characterized by…”
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Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities by Igarashi, Takashi, Inatomi, Jun, Sekine, Takashi, Cha, Seok Ho, Kanai, Yoshikatsu, Kunimi, Motoei, Tsukamoto, Kazuhisa, Satoh, Hiroaki, Shimadzu, Mitsunobu, Tozawa, Fumiko, Mori, Tetsuo, Shiobara, Masaaki, Seki, George, Endou, Hitoshi

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Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis by Inatomi, Jun, Horita, Shoko, Braverman, Nancy, Sekine, Takashi, Yamada, Hideomi, Suzuki, Yoshiro, Kawahara, Katsumasa, Moriyama, Nobuo, Kudo, Akihiko, Kawakami, Hayato, Shimadzu, Mitsunobu, Endou, Hitoshi, Fujita, Toshiro, Seki, George, Igarashi, Takashi

“…Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease with isolated pRTA, short stature and ocular…”
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Human cystine/glutamate transporter: cDNA cloning and upregulation by oxidative stress in glioma cells by Kim, Ju Young, Kanai, Yoshikatsu, Chairoungdua, Arthit, Cha, Seok Ho, Matsuo, Hirotaka, Kim, Do Kyung, Inatomi, Jun, Sawa, Hiroki, Ida, Yoshiteru, Endou, Hitoshi

“…A human cDNA for amino acid transport system x C − was isolated from diethyl maleate-treated human glioma U87 cells. U87 cells expressed two variants of system…”
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Expression of a system L neutral amino acid transporter at the blood–brain barrier by Matsuo, Hirotaka, Tsukada, Shingo, Nakata, Takahiro, Chairoungdua, Arthit, Kim, Do Kyung, Cha, Seok Ho, Inatomi, Jun, Yorifuji, Hiroshi, Fukuda, Jun, Endou, Hitoshi, Kanai, Yoshikatsu

“…Amino acid transport system L has been proposed to be one of the major nutrient transport systems at the blood–brain barrier. Using immunohistochemical…”
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The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia by Komoda, Fusako, Sekine, Takashi, Inatomi, Jun, Enomoto, Atsushi, Endou, Hitoshi, Ota, Toshiyuki, Matsuyama, Takeshi, Ogata, Tsutomu, Ikeda, Masahiro, Awazu, Midori, Muroya, Koji, Kamimaki, Isamu, Igarashi, Takashi

“…Recently, a urate transporter, hURAT1 (human uric acid transporter 1) encoded by SLC22A12, was isolated from the human kidney. hURAT1 is presumed to play the…”
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Identification and Characterization of a Novel Member of the Heterodimeric Amino Acid Transporter Family Presumed to be Associated with an Unknown Heavy Chain by Chairoungdua, Arthit, Kanai, Yoshikatsu, Matsuo, Hirotaka, Inatomi, Jun, Kim, Do Kyung, Endou, Hitoshi

“…We identified a novel amino acid transporter designated Asc-2 (for asc-type amino acid transporter 2). Asc-2 exhibited relatively low but significant sequence…”
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Cloning and characterization of a human brain Na+-independent transporter for small neutral amino acids that transports D-serine with high affinity by NAKAUCHI, J, MATSUO, H, ENDOU, H, KANAI, Y, DO KYUNG KIM, GOTO, A, CHAIROUNGDUA, A, SEOK HO CHA, INATOMI, J, SHIOKAWA, Y, YAMAGUCHI, K, SAITO, I

“…We isolated a cDNA for the human homologue of system asc transporter Asc-1 from human brain. The encoded protein designated as hAsc-1 (human Asc-1) exhibited…”
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Expression of Human Organic Anion Transporters in the Choroid Plexus and Their Interactions With Neurotransmitter Metabolites by Alebouyeh, Mahmoud, Takeda, Michio, Onozato, Maristela Lika, Tojo, Akihiro, Noshiro, Rie, Hasannejad, Habib, Inatomi, Jun, Narikawa, Shinichi, Huang, Xiu-Lin, Khamdang, Suparat, Anzai, Naohiko, Endou, Hitoshi

“…The purpose of the present study was to elucidate the expression of human organic anion transporter 1 (hOAT1) and hOAT3 in the choroid plexus of the human…”
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Identification of a Novel Na+-independent Acidic Amino Acid Transporter with Structural Similarity to the Member of a Heterodimeric Amino Acid Transporter Family Associated with Unknown Heavy Chains by Matsuo, Hirotaka, Kanai, Yoshikatsu, Kim, Ju Young, Chairoungdua, Arthit, Kim, Do Kyung, Inatomi, Jun, Shigeta, Yasuhiro, Ishimine, Hisako, Chaekuntode, Sophapun, Tachampa, Kittipong, Choi, Hye Won, Babu, Ellappan, Fukuda, Jun, Endou, Hitoshi

“…We identified a novel Na+-independent acidic amino acid transporter designated AGT1 (aspartate/glutamatetransporter 1). AGT1 exhibits the highest sequence…”
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Renovascular hypertension complicated with VATER association by Inatomi, Jun, Miyazaki, Osamu, Fujimaru, Rika, Iijima, Kazumoto

“…We report herein a case of a girl with renovascular hypertension associated with VATER association. Her plasma renin activity and aldosterone were high. The…”
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Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease by Igarashi, Takashi, Inatomi, Jun, Ohara, Toshio, Kuwahara, Takashi, Shimadzu, Mitsunobu, Thakker, Rajesh V.

“…Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. Dent's disease is an X-linked renal tubular disorder that is…”
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Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent's disease

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