Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Akari Utsunomiya"'
Autor:
Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno, Masao Kobayashi
Publikováno v:
Frontiers in Genetics, Vol 8 (2017)
We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple endocrine deficiency, and unilateral facial nerve p
Externí odkaz:
https://doaj.org/article/b1fd17da7c654994b3eb9f6be9be2674
Autor:
Akari Utsunomiya
Publikováno v:
International journal of molecular sciences. 23(13)
Specific antibody responses to subfornical organs, including Nax antibody, have been reported in patients with adipsic hypernatremia of unknown etiology who do not have structural lesions in the hypothalamic–pituitary gland. The subfornical organ,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::466c3f0717c002e8efa42878e5666a5a
https://pubmed.ncbi.nlm.nih.gov/35805903
https://pubmed.ncbi.nlm.nih.gov/35805903
Autor:
Hideo Cho, Etsuro Ito, Kiminori Terui, Mayumi Ishikawa, Chia Hao Lin, Akihiro Fujikawa, Makoto Daimon, Masahito Matsumoto, Tomohiko Sato, Masao Kobayashi, Reiko Kagawa, Makoto Anzo, Satoshi Okada, Masaharu Noda, Akari Utsunomiya, Takeshi Nigawara, Keiichi Hara, Takeshi Y. Hiyama, Shinobu Takayasu
Publikováno v:
Brain Pathology. 27:323-331
Adipsic (or essential) hypernatremia is a rare hypernatremia caused by a deficiency in thirst regulation and vasopressin release. In 2010, we reported a case in which autoantibodies targeting the sensory circumventricular organs (sCVOs) caused adipsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0bd23776f6e417abff4f77edaa082868
https://doi.org/10.1111/bpa.12409
https://doi.org/10.1111/bpa.12409
Autor:
Kazuhiko Jinno, Kazuhiro Nakamura, Akari Utsunomiya, Takashi Sato, Masao Kobayashi, Shin-ichiro Miyagawa, Mizuka Miki, Yoshiyuki Kobayashi, Satoshi Okada, Yoko Mizoguchi, Keiichi Hara
Publikováno v:
Pediatrics International. 55:e96-e99
A 2-year-old boy presented with a 21-hydroxylase deficiency, associated with advanced-stage neuroblastoma primarily occurring in the left adrenal gland. He required intensive chemotherapy with polypharmacy, followed by cord blood stem cell transplant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dffe7c5f1ba67b16255128c19614a110
https://doi.org/10.1111/ped.12093
https://doi.org/10.1111/ped.12093
Autor:
Belinda Campos-Xavier, Gen Nishimura, Giedre Grigelioniene, Luisa Bonafé, Sheila Unger, Giulio Superti-Furga, Stefan Geiberger, Cinzia Magnani, Sónia do Vale-Pereira, Maria W. Górna, Andrea Superti-Furga, Keith Harshman, Sheela Nampoothiri, Eva Horemuzova, Francisca Rojas-Ringeling, Sylvain Pradervand, Ekkehart Lausch, Faustina Lalatta, Akari Utsunomiya, Bernhard Zabel, Maria Francesca Bedeschi, Brian Stevenson, Duccio Petrella, Antony Le Béchec
Publikováno v:
American Journal of Human Genetics, 92(6), 990-995. (2013).
AMERICAN JOURNAL OF HUMAN GENETICS
AMERICAN JOURNAL OF HUMAN GENETICS
Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df0a70da8ea941c3e2d250d37b873982
http://orbilu.uni.lu/handle/10993/27300
http://orbilu.uni.lu/handle/10993/27300
Autor:
Susumu Kanzaki, Rei Nishimura, Hiroaki Funata, Yuki Kawashima, Keiichi Hanaki, Reiko Kagawa, Akari Utsunomiya, Masanobu Fujimoto
Publikováno v:
Endocrine journal. 60(1)
Leprechaunism (Donohue syndrome) is the most severe type of insulin receptor (INSR) gene anomaly with the majority of patients surviving for only 2 years. We report a surviving 2 -year-old male with leprechaunism, bearing novel compound heterozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc234d7ee8835eb088de063419a59d7e
https://pubmed.ncbi.nlm.nih.gov/22972224
https://pubmed.ncbi.nlm.nih.gov/22972224
Autor:
Hiroshi Kawaguchi, Satoshi Okada, Akari Utsunomiya, Norioki Ohno, Kazuhiro Nakamura, Masao Kobayashi, Miyuki Tsumura, Mizuka Miki
Publikováno v:
Blood. 124:2726-2726
Introduction: Chronic granulomatous disease (CGD) is an inherited immunodeficiency due to a mutation in genes that encode the subunits of NADPH oxidase of phagocytes. Phagocytes of CGD can not generate the reactive oxidative species (ROS), whereas ni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d75d98274477e0999fb509ef87ef70e4
https://doi.org/10.1182/blood.v124.21.2726.2726
https://doi.org/10.1182/blood.v124.21.2726.2726
Publikováno v:
Platelets. 23:399-400
EDTA-dependent pseudothrombocytopenia (PTCP) is characterised by a low platelet count caused by autoantibodies in the serum reacting with EDTA-anticoagulated blood. EDTA-dependent PTCP is caused by a factor that retains EDTA anticoagulation activity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33008804b90fe0d757afcab1ab00da68
https://doi.org/10.3109/09537104.2011.624210
https://doi.org/10.3109/09537104.2011.624210