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521 results

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Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.
Sato T, Okano T, Tanaka-Kubota M, Kimura S, Miyamoto S, Ono S, Yamashita M, Mitsuiki N, Takagi M, Imai K, Kajiwara M, Ebato T, Ogata S, Oda H, Ohara O, Kanegane H, Morio T. Sato T, et al. Among authors: ohara o. Pediatr Int. 2016 Oct;58(10):1076-1080. doi: 10.1111/ped.13070. Epub 2016 Sep 4. Pediatr Int. 2016. PMID: 27593409
A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).
Tozawa Y, Abdrabou SSMA, Nogawa-Chida N, Nishiuchi R, Ishida T, Suzuki Y, Sano H, Kobayashi R, Kishimoto K, Ohara O, Imai K, Naruto T, Kobayashi K, Ariga T, Yamada M. Tozawa Y, et al. Among authors: ohara o. Clin Immunol. 2019 Nov;208:108256. doi: 10.1016/j.clim.2019.108256. Epub 2019 Sep 5. Clin Immunol. 2019. PMID: 31494288
Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency.
Ono S, Takeshita K, Kiridoshi Y, Kato M, Kamiya T, Hoshino A, Yanagimachi M, Arai K, Takeuchi I, Toita N, Imamura T, Sasahara Y, Sugita J, Hamamoto K, Takeuchi M, Saito S, Onuma M, Tsujimoto H, Yasui M, Taga T, Arakawa Y, Mitani Y, Yamamoto N, Imai K, Suda W, Hattori M, Ohara O, Morio T, Honda K, Kanegane H. Ono S, et al. Among authors: ohara o. J Allergy Clin Immunol Pract. 2021 Oct;9(10):3767-3780. doi: 10.1016/j.jaip.2021.05.045. Epub 2021 Jul 8. J Allergy Clin Immunol Pract. 2021. PMID: 34246792
ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability.
Okura Y, Yamada M, Kobayashi I, Santisteban I, Arredondo-Santisteban G, Kato Z, Iguchi A, Yoshida M, Ohara O, Nakagawa N, Imai K, Hershfield MS, Ariga T. Okura Y, et al. Among authors: ohara o. Br J Haematol. 2011 Jun;153(5):675-6. doi: 10.1111/j.1365-2141.2011.08640.x. Epub 2011 Mar 16. Br J Haematol. 2011. PMID: 21410451 Free article. No abstract available.
Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein.
Murata Y, Yasumi T, Shirakawa R, Izawa K, Sakai H, Abe J, Tanaka N, Kawai T, Oshima K, Saito M, Nishikomori R, Ohara O, Ishii E, Nakahata T, Horiuchi H, Heike T. Murata Y, et al. Among authors: ohara o. Blood. 2011 Aug 4;118(5):1225-30. doi: 10.1182/blood-2011-01-329540. Epub 2011 Jun 8. Blood. 2011. PMID: 21653941 Free article.
521 results