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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
Charbonnier, Louis-Marie, Janssen, Erin, Chou, Janet, Ohsumi, Toshiro K., Keles, Sevgi, Hsu, Joyce T., Massaad, Michel J., Garcia-Lloret, Maria, Hanna-Wakim, Rima, Dbaibo, Ghassan, Alangari, Abdullah A., Alsultan, Abdulrahman, Al-Zahrani, Daifulah, Geha, Raif S., Chatila, Talal A.
Published in Journal of allergy and clinical immunology (01.01.2015)
Published in Journal of allergy and clinical immunology (01.01.2015)
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Keratinocyte-specific angiotensin II receptor-associated protein deficiency exacerbates angiotensin II-dependent hypertension via activation of the skin renin-angiotensin system
Taguchi, Shinya, Azushima, Kengo, Kitada, Kento, Morisawa, Norihiko, Kidoguchi, Satoshi, Morita, Ryutaro, Nakagawa, Kazuya, Ishibe, Atsushi, Endo, Itaru, Kazama, Keisuke, Rino, Yasushi, Saito, Aya, Kinguchi, Sho, Kobayashi, Ryu, Matsusaka, Taiji, Yamashita, Akio, Wakui, Hiromichi, Nishiyama, Akira, Tamura, Kouichi
Published in Nature communications (29.05.2025)
Published in Nature communications (29.05.2025)
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Angiotensin receptor-binding molecule in leukocytes in association with the systemic and leukocyte inflammatory profile
Haruhara, Kotaro, Wakui, Hiromichi, Azushima, Kengo, Kurotaki, Daisuke, Kawase, Wataru, Uneda, Kazushi, Haku, Sona, Kobayashi, Ryu, Ohki, Kohji, Kinguchi, Sho, Ohsawa, Masato, Minegishi, Shintaro, Ishigami, Tomoaki, Matsuda, Miyuki, Yamashita, Akio, Nakajima, Hideaki, Tamura, Tomohiko, Tsuboi, Nobuo, Yokoo, Takashi, Tamura, Kouichi
Published in Atherosclerosis (01.02.2018)
Published in Atherosclerosis (01.02.2018)
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CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS)
Gigante, Maddalena, Pontrelli, Paola, Montemurno, Eustacchio, Roca, Leonarda, Aucella, Filippo, Penza, Rosa, Caridi, Gianluca, Ranieri, Elena, Ghiggeri, Gian Marco, Gesualdo, Loreto
Published in Nephrology, dialysis, transplantation (01.06.2009)
Published in Nephrology, dialysis, transplantation (01.06.2009)
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Enhanced TLR-MYD88 Signaling Stimulates Autoinflammation in SH3BP2 Cherubism Mice and Defines the Etiology of Cherubism
Yoshitaka, Teruhito, Mukai, Tomoyuki, Kittaka, Mizuho, Alford, Lisa M., Masrani, Salome, Ishida, Shu, Yamaguchi, Ken, Yamada, Motohiko, Mizuno, Noriyoshi, Olsen, Bjorn R., Reichenberger, Ernst J., Ueki, Yasuyoshi
Published in Cell reports (Cambridge) (25.09.2014)
Published in Cell reports (Cambridge) (25.09.2014)
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Critical role of MAVS in the protection against Clostridium difficile-induced colitis
Zhang, Pingping, Mao, Ruitao, Lv, Zhi, Wang, Baoya, Su, Jianrong
Published in Microbial pathogenesis (01.12.2018)
Published in Microbial pathogenesis (01.12.2018)
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Silencing of XB130 Is Associated with Both the Prognosis and Chemosensitivity of Gastric Cancer
Shi, Min, Huang, Weizhen, Lin, Li, Zheng, Dayong, Zuo, Qiang, Wang, Lin, Wang, Nina, Wu, Yajun, Liao, Yulin, Liao, Wangjun
Published in PloS one (23.08.2012)
Published in PloS one (23.08.2012)
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A novel model for treatment of hypertrophic pachymeningitis
Cui, Yiwen, Masaki, Katsuhisa, Zhang, Xu, Yamasaki, Ryo, Fujii, Takayuki, Ogata, Hidenori, Hayashida, Shotaro, Yamaguchi, Hiroo, Hyodo, Fuminori, Eto, Hinako, Koyama, Sachiko, Iinuma, Kyoko, Yonekawa, Tomomi, Matsushita, Takuya, Yoshida, Mari, Yamada, Kazunori, Kawano, Mitsuhiro, Malissen, Marie, Malissen, Bernard, Kira, Junichi
Published in Annals of clinical and translational neurology (01.03.2019)
Published in Annals of clinical and translational neurology (01.03.2019)
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The Modular Adaptor Protein Autosomal Recessive Hypercholesterolemia (ARH) Promotes Low Density Lipoprotein Receptor Clustering into Clathrin-coated Pits
Garuti, Rita, Jones, Christopher, Li, Wei-Ping, Michaely, Peter, Herz, Joachim, Gerard, Robert D., Cohen, Jonathan C., Hobbs, Helen H.
Published in The Journal of biological chemistry (09.12.2005)
Published in The Journal of biological chemistry (09.12.2005)
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Bin1 Attenuation Suppresses Experimental Colitis by Enforcing Intestinal Barrier Function
Chang, Mee Young, Boulden, Janette, Valenzano, M. Carmen, Soler, Alejandro P., Muller, Alexander J., Mullin, James M., Prendergast, George C.
Published in Digestive diseases and sciences (01.07.2012)
Published in Digestive diseases and sciences (01.07.2012)
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Autosomal recessive hypercholesterolaemia: Discrimination of ARH protein and LDLR function in the homozygous FH phenotype
Abera, Aron B., Marais, A. David, Raal, Frederick J., Leisegang, Felicity, Jones, Sheena, George, Peter, Henderson, Howard E.
Published in Clinica chimica acta (01.03.2007)
Published in Clinica chimica acta (01.03.2007)
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Diabetes Induces p66shc Gene Expression in Human Peripheral Blood Mononuclear Cells: Relationship to Oxidative Stress
Pagnin, Elisa, Fadini, Gianpaolo, de Toni, Renzo, Tiengo, Antonio, Calò, Lorenzo, Avogaro, Angelo
Published in The journal of clinical endocrinology and metabolism (01.02.2005)
Published in The journal of clinical endocrinology and metabolism (01.02.2005)
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