المؤلفون: Akari Nakamura-Utsunomiya, Akira Taguchi, Atsushi Tominaga, Fumiyuki Yamasaki, Kaoru Kurisu, Kazuhiko Sugiyama, Motoki Takano, Reiko Kagawa, Satoshi Okada, Satoshi Usui, Sayuru Tsuyuguchi, Shuhei Karakawa, Sonoko Sakata, Takeshi Takayasu, Ushio Yonezawa, Yasuyuki Kinoshita, 唐川 修平, 坂田 園子, 宇都宮 朱里, 富永 篤, 山崎 文之, 岡田 賢, 木下 康之, 杉山 一彦, 栗栖 薫, 田口 慧, 碓井 智, 米澤 潮, 露口 冴, 香川 礼子, 高安 武志, 高野 元気

المصدر: 小児の脳神経 / Nervous System in Children. 2020, 45(4):351

المؤلفون: Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno, Masao Kobayashi

المصدر: Frontiers in Genetics, Vol 8 (2017)

مصطلحات موضوعية: CHARGE syndrome, Kabuki syndrome, KMT2D, CHD7, phenotypic overlap, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fgene.2017.00210/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/b1fd17da7c654994b3eb9f6be9be2674

المؤلفون: Nakamura‐utsunomiya, Akari, Goda, Satoshi, Hayakawa, Seiichi, Sonoko, Sakata, Hoorn, Ewout, J, Blanchard, Anne, Saito-Hakoda, Akiko, Kakimoto, Haruna, Hachiya, Rumi, Kamimura, Miki, Kawakita, Rie, Higuchi, Shinji, Fujimaru, Rika, Shirai, Yoko, Miyaoka, Daichi, Nagata, Yuki, Kishi, Yutaro, Wada, Aya, Mitsuboshi, Akari, Ozaki, Kayo, Komatsu, Nagisa, Niizuma, Hidetaka, Kanno, Junko, Fujiwara, Ikuma, Hasegawa, Yukihiro, Yorifuji, Tohru, Brickman, Wendy, Vantyghem, Marie‐christine, Yamaguchi, Kei, Goshima, Naoki, Hiyama, Takeshi, Y

المساهمون: Erasmus University Medical Center Rotterdam (Erasmus MC), Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CIC - HEGP (CIC 1418), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Recherche translationnelle sur le diabète - U 1190 (RTD), Institut Pasteur de Lille, Pasteur Network (Réseau International des Instituts Pasteur)-Pasteur Network (Réseau International des Instituts Pasteur)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 0300-0664.

مصطلحات موضوعية: dysnatremia, hypothalamus dysfunction, Na x channel, ROHHAD syndrome, sensory circumventricular organ, subfornical organ, adipsic hypernatremia dysnatremia hypothalamus dysfunction Na x channel ROHHAD syndrome sensory circumventricular organ subfornical organ, adipsic hypernatremia, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04052059
https://hal.science/hal-04052059v1/document
https://hal.science/hal-04052059v1/file/2022-Nakamura%20Utsunomiya-Clin%20Endocrinol%20%28Oxf%29.pdf
https://doi.org/10.1111/cen.14737

المؤلفون: Akari Nakamura-Utsunomiya, Toshio Nakamae, Reiko Kagawa, Shuhei Karakawa, Sonoko Sakata, Fumiaki Sakura, Chihiro Tani, Yoshiko Matsubara, Takashi Ishino, Go Tajima, Satoshi Okada

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 3, p 989 (2020)

مصطلحات موضوعية: morquio a syndrome, mucopolysaccharidosis type iva, elosulfase alfa, enzyme replacement therapy, growth, spinal decompression surgery, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/21/3/989; https://doaj.org/toc/1422-0067; https://doaj.org/article/fc9eeadd38b146318dcf5a1bdd20ba4c

الاتاحة: https://doi.org/10.3390/ijms21030989
https://doaj.org/article/fc9eeadd38b146318dcf5a1bdd20ba4c

المؤلفون: Maiko Shimomura, Sonoko Sakata, Satoshi Okada, Tadashi Matsubayashi, Shuhei Karakawa

المصدر: Journal of Clinical Immunology

مصطلحات موضوعية: medicine.medical_specialty, Transplantation Conditioning, biology, business.industry, medicine.medical_treatment, Immunology, MEDLINE, Hematopoietic Stem Cell Transplantation, Disease Management, Graft vs Host Disease, Genes, Recessive, Hematopoietic stem cell transplantation, Letter to Editor, Medical microbiology, STAT1 Transcription Factor, Treatment Outcome, Antineoplastic Combined Chemotherapy Protocols, biology.protein, Immunology and Allergy, Medicine, Humans, Genetic Predisposition to Disease, STAT1, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b79035e1ac8df7148fed79ec103e5356
http://europepmc.org/articles/PMC7780594

المؤلفون: Osamu Ohara, Hidetoshi Takada, Vanessa Sancho-Shimizu, Kunihiko Moriya, Capucine Picard, Shiho Nishimura, Sarosh R. Irani, Hidenori Ohnishi, Zenichiro Kato, Masao Kobayashi, Jean-Laurent Casanova, Nobutsune Ishikawa, Miyuki Tsumura, Satoshi Okada, Yoko Mizoguchi, Anne Puel, Sonoko Sakata, Yoshiyuki Kobayashi

المساهمون: Medical Research Council (MRC)

المصدر: Journal of Clinical Immunology

مصطلحات موضوعية: Male, 0301 basic medicine, anti-NMDAR encephalitis, Herpesvirus 6, Human, DNA Mutational Analysis, Mutant, medicine.disease_cause, Compound heterozygosity, BACTERIAL-INFECTIONS, Autoimmunity, ACTIVATION, 0302 clinical medicine, Genes, Reporter, Immunology and Allergy, Medicine, INTERLEUKIN-1, HHV6, Receptor, Anti-N-Methyl-D-Aspartate Receptor Encephalitis, autoimmunity, Brain, Disease Management, IRAK4, Magnetic Resonance Imaging, Pedigree, D-ASPARTATE RECEPTOR, Interleukin-1 Receptor-Associated Kinases, 1107 Immunology, Original Article, Disease Susceptibility, Symptom Assessment, Life Sciences & Biomedicine, Encephalitis, Primary Immunodeficiency Diseases, Immunology, Roseolovirus Infections, DIAGNOSIS, Diagnosis, Differential, 03 medical and health sciences, 2 SIBLINGS, Immunity, Humans, Genetic Predisposition to Disease, Allele, Alleles, Science & Technology, business.industry, MUTATIONS, Infant, PATHWAYS, medicine.disease, HEK293 Cells, 030104 developmental biology, Mutation, ANTIBODIES, Virus Activation, MYD88, business, Biomarkers, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcc7534691d31de4f94f464d0424fa8d
https://tsukuba.repo.nii.ac.jp/records/2003799

المؤلفون: Jacinta Bustamante, Tomohiro Morio, Masao Kobayashi, Tom Le Voyer, Tsubasa Okano, Reiko Kagawa, Jean-Laurent Casanova, Tadashi Matsubayashi, Moe Tamaura, Takuya Naruto, Sonoko Sakata, Shiho Nishimura, Satoshi Okada, Yoko Mizoguchi, Miyuki Tsumura, Osamu Ohara, Shunsuke Kimura, Shuhei Karakawa, Kohsuke Imai

المصدر: International Immunology. 32:663-671

مصطلحات موضوعية: Male, Genetics, Mutation, Immunology, Genetic Diseases, Inborn, Intron, Heterozygote advantage, General Medicine, Biology, medicine.disease, Compound heterozygosity, medicine.disease_cause, Virus, STAT1 Transcription Factor, Gene expression, Primary immunodeficiency, medicine, biology.protein, Humans, Immunology and Allergy, RNA, Messenger, RNA-Seq, STAT1, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ba5086d485d170945f7fdf5de57719
https://doi.org/10.1093/intimm/dxaa043

المؤلفون: Rie, Seyama, Naomi, Tsuchida, Yasuyuki, Okada, Sonoko, Sakata, Keisuke, Hamada, Yoshiteru, Azuma, Kohei, Hamanaka, Atsushi, Fujita, Eriko, Koshimizu, Satoko, Miyatake, Takeshi, Mizuguchi, Shintaro, Makino, Atsuo, Itakura, Satoshi, Okada, Nobuhiko, Okamoto, Kazuhiro, Ogata, Yuri, Uchiyama, Naomichi, Matsumoto

المصدر: Journal of human genetics. 67(3)

مصطلحات موضوعية: Craniofacial Abnormalities, Intellectual Disability, Exome Sequencing, Humans, Dioxygenases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2dc7bdda624838b8ae9f988e1a344df9
https://pubmed.ncbi.nlm.nih.gov/34719681

المؤلفون: Masao Kobayashi, Reiko Kagawa, Hidetoshi Takada, Osamu Ohara, Jamila El Baghdadi, Maiko Ikeda, Yuval Itan, Silvia Danielian, Jean-Laurent Casanova, Kaori Fujiwara, Ryoji Fujiki, Osamu Hirata, Zenichiro Kato, Satoshi Saito, Shiho Nishimura, Aziz Bousfiha, Jacinta Bustamante, Fatima Ailal, Stéphanie Boisson-Dupuis, Satoshi Okada, Anne Puel, Matías Oleastro, Laura Perez, Xiao-Fei Kong, Toshiro Hara, Hidenori Ohnishi, Judith Yancoski, Sonoko Sakata, Miyuki Tsumura

المصدر: Journal of Allergy and Clinical Immunology. 140:232-241

مصطلحات موضوعية: 0301 basic medicine, Genetics, Immunology, Mutant, Wild type, DNA-binding domain, Alanine scanning, Biology, medicine.disease, Germline, 03 medical and health sciences, 030104 developmental biology, medicine, Immunology and Allergy, Missense mutation, Chronic mucocutaneous candidiasis, Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::429ad4a102e3d127b3a5042939732c49
https://doi.org/10.1016/j.jaci.2016.09.035

المؤلفون: Osamu Ohara, Tomohiro Morio, Seiichi Hayakawa, Miyuki Tsumura, Satoshi Okada, Kohsuke Imai, Sonoko Sakata, Masao Kobayashi, Kazuaki Chayama, Yoshitaka Ueno

المصدر: Journal of Clinical Immunology. 36:28-32

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Atrophic gastritis, DNA Mutational Analysis, Immunology, Chronic gastritis, chemical and pharmacologic phenomena, Haploinsufficiency, Adenocarcinoma, Infections, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, Fatal Outcome, Japan, Stomach Neoplasms, medicine, Humans, Immunology and Allergy, CTLA-4 Antigen, Genetic Predisposition to Disease, business.industry, FOXP3, Cancer, Immune dysregulation, medicine.disease, Penetrance, Pedigree, 030104 developmental biology, CTLA-4, Mutation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::515fc8577084eed1daa6b8f29b68b654
https://doi.org/10.1007/s10875-015-0221-x

المؤلفون: Anat Biran, Masad J. Damha, Michael J. Ciancanelli, Kerry Dobbs, Amos Etzioni, Osamu Ohara, Luísa Diogo, Mary Hasek, Stacy A. Hussong, Fabien G. Lafaille, Jean-Laurent Casanova, Yuval Itan, Lorenz Studer, Satoshi Okada, William G. Fairbrother, Lazaro Lorenzo, Veronica Galvan, Saleh Al-Muhsen, Gregory A. Smith, Rabih Halwani, Alexandra Dinis, Allison J Taggart, Aurélie Cobat, Nathaniel E. Clark, P. John Hart, Eduardo J. Garcia Reino, Brad R. Rosenberg, Luigi D. Notarangelo, Nicholas DeRosa, Adam Katolik, Emília Faria, Sonoko Sakata, Rie Fukuhara, Paula Garcia, Candice E. Van Skike, Maki Hyodo, Masao Kobayashi, Bastian Zimmer, Karen McCammon, Catherine A. Freije, Shen-Ying Zhang, Hanna Mandel, Jef D. Boeke, Miyuki Tsumura, Jingchuan Luo, Stephen P. Holloway, Elodie Pauwels, Laurent Abel, Stefano Volpi

مصطلحات موضوعية: 0301 basic medicine, Male, Genetics and Molecular Biology (all), viruses, Mutant, viral encephalitis, Herpesvirus 1, Human, Biology, medicine.disease_cause, Virus Replication, Biochemistry, General Biochemistry, Genetics and Molecular Biology, Virus, Article, brainstem, 03 medical and health sciences, Mice, Open Reading Frames, Immunity, medicine, Escherichia coli, DBR1, Animals, Humans, Amino Acid Sequence, Encephalitis, Viral, Allele, Alleles, RNA lariat debranching, Biochemistry, Genetics and Molecular Biology (all), RNA, Brain Diseases, Metabolic, Inborn, RNA Nucleotidyltransferases, Fibroblasts, Virology, Introns, Pedigree, Toll-Like Receptor 3, 030104 developmental biology, Herpes simplex virus, Mutation, Lariat debranching enzyme, Female, Mutant Proteins, Brainstem, Interferons, Brain Stem

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2010953adfec53c6901bb52f82566270
http://hdl.handle.net/11567/895025

المؤلفون: Akari Nakamura-Utsunomiya, Sonoko Sakata, Nagisa Komatsu, Shuntaro Morikawa, Satoshi Okada, Toshihiro Tajima

المصدر: Clinical Pediatric Endocrinology. 24:135-138

مصطلحات موضوعية: medicine.medical_specialty, Mutation, Aldosterone, business.industry, Endocrinology, Diabetes and Metabolism, Pseudohypoaldosteronism, Disease, Poor weight gain, medicine.disease, medicine.disease_cause, Genetic analysis, chemistry.chemical_compound, Endocrinology, Mineralocorticoid receptor, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Haploinsufficiency, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a037b7a351f1cbb51c888e921225d1ab
https://doi.org/10.1297/cpe.24.135

المؤلفون: Keita Tomioka, Aya Furue, Maiko Shimomura, Masao Kobayashi, Kazuhiro Nakamura, Shuhei Karakawa, Hiroshi Kawaguchi, Sonoko Sakata, Ikue Chijimatsu, Mizuka Miki, Shiho Nishimura, Takehiko Doi, Satoshi Okada, Yoko Mizoguchi

المصدر: Blood. 128:3688-3688

مصطلحات موضوعية: medicine.medical_specialty, Cyclophosphamide, business.industry, medicine.medical_treatment, Immunology, Cell Biology, Hematology, Hematopoietic stem cell transplantation, Total body irradiation, Neutropenia, medicine.disease, Biochemistry, Gastroenterology, Donor lymphocyte infusion, Surgery, Transplantation, surgical procedures, operative, Graft-versus-host disease, Internal medicine, Medicine, business, Congenital Neutropenia, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d0531522bd39ecb922588622ee45c482
https://doi.org/10.1182/blood.v128.22.3688.3688

المؤلفون: Satoshi Saito, Tatsutoshi Nakahata, Takafumi Hiramoto, Sonoko Sakata, Masao Kobayashi, Aya Furue, Mizuka Miki, Miyuki Tsumura, Shiho Nishimura, Hiroshi Kawaguchi, Yasuhiro Ebihara, Yoko Mizoguchi, Kohichiro Tsuji

المصدر: Blood. 126:2193-2193

مصطلحات موضوعية: Immunology, CD34, Cell Biology, Hematology, Gene mutation, Biology, medicine.disease, Biochemistry, Molecular biology, Cyclic neutropenia, Haematopoiesis, medicine.anatomical_structure, Cell culture, ELANE Gene, medicine, Myelopoiesis, Bone marrow

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c98a843c76e756570f6560fb495aa6cc
https://doi.org/10.1182/blood.v126.23.2193.2193

المؤلفون: Shuntaro Morikawa, Nagisa Komatsu, Sonoko Sakata, Akari Nakamura-Utsunomiya, Satoshi Okada, Toshihiro Tajima

المصدر: Clinical Pediatric Endocrinology; Jul2015, Vol. 24 Issue 3, p135-138, 4p, 1 Diagram

مصطلحات موضوعية: HYPOALDOSTERONISM, ALDOSTERONE, MINERALOCORTICOID receptors

المؤلفون: Kozo Yasui¹ k-yasui@city-hosp.naka.hiroshima.jp, Sonoko Sakata¹, Hideaki Ochi¹, Shinji Itamura¹, Kenta Hirai¹, Mieko Takenaka¹, Osamu Mitani¹, Kazunori Ogawa¹, Kuniaki Iyoda¹

المصدر: Pediatric Rheumatology. 2012, Vol. 10 Issue 1, p1-4. 4p.

مصطلحات موضوعية: *JUVENILE idiopathic arthritis, *RHEUMATOID arthritis, *RHEUMATOID factor, *NONSTEROIDAL anti-inflammatory agents, *MONOCLONAL antibodies, *DISEASE remission