Search Results - "ITAKURA, MITSUO"

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies by Bolduc, Véronique, Marlow, Gareth, Boycott, Kym M., Saleki, Khalil, Inoue, Hiroshi, Kroon, Johan, Itakura, Mitsuo, Robitaille, Yves, Parent, Lucie, Baas, Frank, Mizuta, Kuniko, Kamata, Nobuyuki, Richard, Isabelle, Linssen, Wim H.J.P., Mahjneh, Ibrahim, de Visser, Marianne, Bashir, Rumaisa, Brais, Bernard

“…The recently described human anion channel Anoctamin (ANO) protein family comprises at least ten members, many of which have been shown to correspond to…”
Get full text

Overexpression of HMGA2 relates to reduction of the let-7 and its relationship to clinicopathological features in pituitary adenomas by Qian, Zhi Rong, Asa, Sylvia L, Siomi, Haruhiko, Siomi, Mikiko C, Yoshimoto, Katsuhiko, Yamada, Shozo, Wang, Elaine Lu, Rahman, Md Mustafizur, Inoue, Hiroshi, Itakura, Mitsuo, Kudo, Eiji, Sano, Toshiaki

“…High-mobility group A2 is highly expressed during embryogenesis and in various benign and malignant tumors. Recent studies report that high-mobility group A2…”
Get full text

High-throughput DNA typing of HLA-A, -B, -C, and -DRB1 loci by a PCR-SSOP-Luminex method in the Japanese population by Itoh, Yoshiki, Mizuki, Nobuhisa, Shimada, Tsuyako, Azuma, Fumihiro, Itakura, Mitsuo, Kashiwase, Koichi, Kikkawa, Eri, Kulski, Jerzy K, Satake, Masahiro, Inoko, Hidetoshi

“…We have developed a new high-throughput, high-resolution genotyping method for the detection of alleles at the human leukocyte antigen (HLA)-A, -B, -C, and…”
Get full text

TMEM16E (GDD1) Exhibits Protein Instability and Distinct Characteristics in Chloride Channel/Pore Forming Ability by Tran, Ta To, Tobiume, Kei, Hirono, Chikara, Fujimoto, Shinichi, Mizuta, Kuniko, Kubozono, Kazumi, Inoue, Hiroshi, Itakura, Mitsuo, Sugita, Makoto, Kamata, Nobuyuki

“…TMEM16E/GDD1 has been shown to be responsible for the bone‐related late‐onset disease gnathodiaphyseal dysplasia (GDD), with the dominant allele (TMEM16Egdd)…”
Get full text

Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia by Mizuta, Kuniko, Tsutsumi, Satoshi, Inoue, Hiroshi, Sakamoto, Yukiko, Miyatake, Katsutoshi, Miyawaki, Katsuyuki, Noji, Sumihare, Kamata, Nobuyuki, Itakura, Mitsuo

“…The human GDD1/TMEM16E gene has been found to be mutated in gnathodiaphyseal dysplasia, an unusual skeletal syndrome with autosomal dominant inheritance. The…”
Get full text

SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population by Sakamoto, Yukiko, Inoue, Hiroshi, Keshavarz, Parvaneh, Miyawaki, Katsuyuki, Yamaguchi, Yuka, Moritani, Maki, Kunika, Kiyoshi, Nakamura, Naoto, Yoshikawa, Toshikazu, Yasui, Natsuo, Shiota, Hiroshi, Tanahashi, Toshihito, Itakura, Mitsuo

“…Many genetic association studies support a contribution of genetic variants in the KCNJ11-ABCC8 gene locus to type 2 diabetes (T2D) susceptibility in…”
Get full text

Replication of reported genetic associations of PADI4, FCRL3, SLC22A4 and RUNX1 genes with rheumatoid arthritis: results of an independent Japanese population and evidence from meta-analysis of East Asian studies by Takata, Yoichiro, Inoue, Hiroshi, Sato, Aya, Tsugawa, Kazue, Miyatake, Katsutoshi, Hamada, Daisuke, Shinomiya, Fumio, Nakano, Shunji, Yasui, Natsuo, Tanahashi, Toshihito, Itakura, Mitsuo

“…We conducted population-based association tests for the four selected SNPs (rs2240340/padi4_94, rs7528684/fcrl3_3, rs3792876/slc2F2 and rs2268277/runx1)…”
Get full text

The Novel Gene Encoding a Putative Transmembrane Protein Is Mutated in Gnathodiaphyseal Dysplasia (GDD) by Tsutsumi, Satoshi, Kamata, Nobuyuki, Vokes, Tamara J., Maruoka, Yutaka, Nakakuki, Koichi, Enomoto, Shoji, Omura, Ken, Amagasa, Teruo, Nagayama, Masaru, Saito-Ohara, Fumiko, Inazawa, Johji, Moritani, Maki, Yamaoka, Takashi, Inoue, Hiroshi, Itakura, Mitsuo

“…Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the…”
Get full text

YKL-40 secreted from adipose tissue inhibits degradation of type I collagen by Iwata, Takeo, Kuwajima, Masamichi, Sukeno, Akiko, Ishimaru, Naozumi, Hayashi, Yoshio, Wabitsch, Martin, Mizusawa, Noriko, Itakura, Mitsuo, Yoshimoto, Katsuhiko

“…Obesity is considered a chronic low-grade inflammatory status and the stromal vascular fraction (SVF) cells of adipose tissue (AT) are considered a source of…”
Get full text

Bhlhe40, a potential diabetic modifier gene on Dbm1 locus, negatively controls myocyte fatty acid oxidation by Takeshita, Shigeru, Suzuki, Takao, Kitayama, Susumu, Moritani, Maki, Inoue, Hiroshi, Itakura, Mitsuo

“…We have previously identified significant quantitative trait loci (QTL) Dbm1 (diabetic modifier QTL 1) on chromosome 6, affecting plasma glucose and insulin…”
Get full text

Analysis of expression and structure of the rat GH-secretagogue/ghrelin receptor (Ghsr) gene: Roles of epigenetic modifications in transcriptional regulation by Inoue, Hiroshi, Sakamoto, Yukiko, Kangawa, Natsumi, Kimura, Chizuko, Ogata, Tsutomu, Fujieda, Kenji, Qian, Zhi Rong, Sano, Toshiaki, Itakura, Mitsuo

“…► The molecular basis for tissue and cell type-specific expression of GHSR has not yet been fully elucidated. ► The 5′-flanking region of the rat Ghsr gene was…”
Get full text

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency by Soneda, Akiko, Adachi, Masanori, Muroya, Koji, Asakura, Yumi, Takagi, Masaki, Hasegawa, Tomonobu, Inoue, Hiroshi, Itakura, Mitsuo

“…Abstract Objective To elucidate the pathogenesis of isolated growth hormone (GH) deficiency in a Japanese girl without consanguinity. Design A 2-year-old girl…”
Get full text

No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population by Keshavarz, Parvaneh, Inoue, Hiroshi, Sakamoto, Yukiko, Kunika, Kiyoshi, Tanahashi, Toshihito, Nakamura, Naoto, Yoshikawa, Toshikazu, Yasui, Natsuo, Shiota, Hiroshi, Itakura, Mitsuo

“…Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have…”
Get full text

Diabetic modifier QTL, Dbm4, affecting elevated fasting blood glucose concentrations in congenic mice by Takeshita, Shigeru, Kitayama, Susumu, Suzuki, Takao, Moritani, Maki, Inoue, Hiroshi, Itakura, Mitsuo

“…We have previously identified four significant quantitative trait loci (QTL) affecting plasma glucose concentrations on F2 progeny of hypoinsulinemic diabetic…”
Get full text

Frequency of the G/G Genotype of Resistin Single Nucleotide Polymorphism at −420 Appears to Be Increased in Younger-Onset Type 2 Diabetes by OCHI, Masaaki, OSAWA, Haruhiko, MIKI, Tetsuro, NAKAMURA, Naoto, KADOWAKI, Takashi, ITAKURA, Mitsuo, KASUGA, Masato, MAKINO, Hideichi, HIROTA, Yushi, HARA, Kazuo, TABARA, Yasuharu, TOKUYAMA, Yoshiharu, SHIMIZU, Ikki, KANATSUKA, Azuma, FUJII, Yasuhisa, OHASHI, Jun

“…Frequency of the G/G Genotype of Resistin Single Nucleotide Polymorphism at −420 Appears to Be Increased in Younger-Onset Type 2 Diabetes Masaaki Ochi 1 ,…”
Get full text

Identification of candidate genes in the type 2 diabetes modifier locus using expression QTL by Yaguchi, Hiroshi, Togawa, Katsuhiko, Moritani, Maki, Itakura, Mitsuo

“…To identify new genetic determinants relevant to type 2 diabetes (T2D), diabetic F2 progeny were generated by intercrossing F1 mice obtained from a cross of…”
Get full text

Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation by MUROYA, Koji, MOCHIZUKI, Takahiro, FUKAMI, Maki, ISO, Manami, FUJITA, Keinosuke, ITAKURA, Mitsuo, OGATA, Tsutomu

“…We report on a Japanese girl with HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome who developed diabetes mellitus (DM) at three…”
Get full text

Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1 by Tsutsumi, Satoshi, Inoue, Hiroshi, Sakamoto, Yukiko, Mizuta, Kuniko, Kamata, Nobuyuki, Itakura, Mitsuo

“…Mutations in the GDD1 gene cause gnathodiaphyseal dysplasia, a rare human skeletal syndrome with autosomal dominant inheritance. The biochemical function(s) of…”
Get full text

Familial juvenile hyperuricemic nephropathy: Detection of mutations in the uromodulin gene in five Japanese families by Kudo, Eiji, Kamatani, Naoyuki, Tezuka, Osamu, Taniguchi, Atsuo, Yamanaka, Hisashi, Yabe, Sachiko, Osabe, Dai, Shinohara, Syuichi, Nomura, Kyoko, Segawa, Masaya, Miyamoto, Tatsuro, Moritani, Maki, Kunika, Kiyoshi, Itakura, Mitsuo

“…Familial juvenile hyperuricemic nephropathy: Detection of mutations in the uromodulin gene in five Japanese families. Familial juvenile hyperuricemic…”
Get full text

Positive association of the pericentrin (PCNT) gene with major depressive disorder in the Japanese population by Numata, Shusuke, MD, PhD, Iga, Jun-ichi, MD, PhD, Nakataki, Masahito, MD, Tayoshi, Shin’Ya, MD, PhD, Tanahashi, Toshihito, MD, PhD, Itakura, Mitsuo, MD, PhD, Ueno, Shu-ichi, MD, PhD, Ohmori, Tetsuro, MD, PhD

“…Background Pericentrin ( PCNT ) interacts with disruption-in-schizophrenia 1 ( DISC1 ), a known genetic risk factor for schizophrenia, bipolar disorder and…”
Get full text