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Three new mutations in the hepatocyte nuclear factor-1α gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization
Yoshiuchi, I., Yamagata, K., Yang, Q., Iwahashi, H., Okita, K., Yamamoto, K., Oue, T., Imagawa, A., Hamaguchi, T., Yamasaki, T., Horikawa, Y., Satoh, T., Nakajima, H., Miyazaki, J., Higashiyama, S., Miyagawa, J., Namba, M., Hanafusa, T., Matsuzawa, Y.
Published in Diabetologia (01.05.1999)
Published in Diabetologia (01.05.1999)
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Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation
Castillejo-Lopez, Casimiro, Pjanic, Milos, Pirona, Anna Chiara, Hetty, Susanne, Wabitsch, Martin, Wadelius, Claes, Quertermous, Thomas, Arner, Erik, Ingelsson, Erik
Published in iScience (25.10.2019)
Published in iScience (25.10.2019)
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Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature: Functional characterization of novel GHRHR mutations
Inoue, Hiroshi, Kangawa, Natsumi, Kinouchi, Atsuko, Sakamoto, Yukiko, Kimura, Chizuko, Horikawa, Reiko, Shigematsu, Yosuke, Itakura, Mitsuo, Ogata, Tsutomu, Fujieda, Kenji
Published in Clinical endocrinology (Oxford) (01.02.2011)
Published in Clinical endocrinology (Oxford) (01.02.2011)
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Abstract IA11: Using publicly available databases for the functional characterization of cancer genes
Cheon, Dong-Joo, Beach, Jessica, Tong, Yunguang, Cui, Xiaojiang, Tighiouart, Mourad, Liu, Zhenqiu, Walts, Ann E., Karlan, Beth Y., Orsulic, Sandra
Published in Clinical cancer research (01.10.2013)
Published in Clinical cancer research (01.10.2013)
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Functional characterization and transcriptional analysis of galE gene encoding a UDP-galactose 4-epimerase in Xanthomonas campestris pv. campestris
Li, Chien-Te, Liao, Chao-Tsai, Du, Shin-Chiao, Hsiao, Yu-Ping, Lo, Hsueh-Hsia, Hsiao, Yi-Min
Published in Microbiological research (01.05.2014)
Published in Microbiological research (01.05.2014)
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Functional characterization of the ER stress induced X-box-binding protein-1 (Xbp-1) in the porcine system
Zhang, Jin-Yu, Lee, Kyu-Sun, Kim, Ji-Su, Song, Bong-Seok, Jin, Dong-Il, Koo, Deog-Bon, Yu, Kweon
Published in BMC molecular biology (24.05.2011)
Published in BMC molecular biology (24.05.2011)
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Identification and Functional Characterization of a Na+-Independent Large Neutral Amino Acid Transporter, LAT1, in Human and Rabbit Cornea
Jain-Vakkalagadda, Blisse, Dey, Surajit, Pal, Dhananjay, Mitra, Ashim K
Published in Investigative ophthalmology & visual science (01.07.2003)
Published in Investigative ophthalmology & visual science (01.07.2003)
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Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine
Kavitha, Babu, Ranganathan, Sampathkumar, Gopi, Sundaramoorthy, Vetrivel, Umashankar, Hemavathy, Nagarajan, Mohan, Viswanathan, Radha, Venkatesan
Published in Frontiers in endocrinology (Lausanne) (16.06.2023)
Published in Frontiers in endocrinology (Lausanne) (16.06.2023)
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Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus
Boselt, I., Tramma, D., Kalamitsou, S., Niemeyer, T., Nykanen, P., Graf, K.-J., Krude, H., Marenzi, K. S., Di Candia, S., Schoneberg, T., Schulz, A.
Published in Nephrology, dialysis, transplantation (01.04.2012)
Published in Nephrology, dialysis, transplantation (01.04.2012)
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Platelet 12-lipoxygenase Arg261Gln polymorphism: functional characterization and association with risk of esophageal squamous cell carcinoma in combination with COX-2 polymorphisms
Guo, Yongli, Zhang, Xuemei, Tan, Wen, Miao, Xiaoping, Sun, Tong, Zhao, Dan, Lin, Dongxin
Published in Pharmacogenetics and genomics (01.03.2007)
Published in Pharmacogenetics and genomics (01.03.2007)
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Phenotypic and functional characterization of intrahepatic T lymphocytes during chronic hepatitis C
Leroy, Vincent, Vigan, Ines, Mosnier, Jean-Francois, Dufeu-Duchesne, Tania, Pernollet, Martine, Zarski, Jean-Pierre, Marche, Patrice N., Jouvin-Marche, Evelyne
Published in Hepatology (Baltimore, Md.) (01.10.2003)
Published in Hepatology (Baltimore, Md.) (01.10.2003)
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Cloning and functional characterization of an enzyme from Helicobacter pylori that catalyzes two steps of the methylerythritol phosphate pathway for isoprenoid biosynthesis
Pérez-Gil, Jordi, Bergua, María, Boronat, Albert, Imperial, Santiago
Published in Biochimica et biophysica acta (01.09.2010)
Published in Biochimica et biophysica acta (01.09.2010)
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Transcriptional analysis and functional characterization of XCC1294 gene encoding a GGDEF domain protein in Xanthomonas campestris pv. campestris
Hsiao, Yi-Min, Song, Wan-Ling, Liao, Chao-Tsai, Lin, I-Hsuan, Pan, Mei-Ying, Lin, Ching-Fen
Published in Archives of microbiology (01.04.2012)
Published in Archives of microbiology (01.04.2012)
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