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Items: 1 to 50 of 409

1.

Cysteinyl leukotriene metabolism of human eosinophils in allergic disease.

Miyata J, Fukunaga K, Kawashima Y, Ohara O, Arita M.

Allergol Int. 2019 Jun 24. pii: S1323-8930(19)30076-0. doi: 10.1016/j.alit.2019.06.002. [Epub ahead of print] Review.

2.

Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases.

Nishikomori R, Izawa K, Kambe N, Ohara O, Yasumi T.

Int Immunol. 2019 Jun 11. pii: dxz047. doi: 10.1093/intimm/dxz047. [Epub ahead of print]

PMID:
31185077
3.

Eomes transcription factor is required for the development and differentiation of invariant NKT cells.

Shimizu K, Sato Y, Kawamura M, Nakazato H, Watanabe T, Ohara O, Fujii SI.

Commun Biol. 2019 Apr 29;2:150. doi: 10.1038/s42003-019-0389-3. eCollection 2019.

4.

Human NK cell development in hIL-7 and hIL-15 knockin NOD/SCID/IL2rgKO mice.

Matsuda M, Ono R, Iyoda T, Endo T, Iwasaki M, Tomizawa-Murasawa M, Saito Y, Kaneko A, Shimizu K, Yamada D, Ogonuki N, Watanabe T, Nakayama M, Koseki Y, Kezuka-Shiotani F, Hasegawa T, Yabe H, Kato S, Ogura A, Shultz LD, Ohara O, Taniguchi M, Koseki H, Fujii SI, Ishikawa F.

Life Sci Alliance. 2019 Apr 1;2(2). pii: e201800195. doi: 10.26508/lsa.201800195. Print 2019 Apr.

5.

[MULTIOMICS ANALYSIS OF HUMAN EOSINOPHILS REVEALED MOLECULAR MECHANISM OF EOSINOPHILIC RHINOSINUSITIS AND SEVERE ASTHMA].

Miyata J, Kawashima Y, Ohara O, Betsuyaku T, Fukunaga K, Arita M.

Arerugi. 2019;68(2):86-91. doi: 10.15036/arerugi.68.86. Japanese. No abstract available.

PMID:
30867365
6.

Co-activation of macrophages and T cells contribute to chronic GVHD in human IL-6 transgenic humanised mouse model.

Ono R, Watanabe T, Kawakami E, Iwasaki M, Tomizawa-Murasawa M, Matsuda M, Najima Y, Takagi S, Fujiki S, Sato R, Mochizuki Y, Yoshida H, Sato K, Yabe H, Kato S, Saito Y, Taniguchi S, Shultz LD, Ohara O, Amagai M, Koseki H, Ishikawa F.

EBioMedicine. 2019 Mar;41:584-596. doi: 10.1016/j.ebiom.2019.02.001. Epub 2019 Feb 13.

7.

Inhibition of T cell activation and function by the adaptor protein CIN85.

Kong MS, Hashimoto-Tane A, Kawashima Y, Sakuma M, Yokosuka T, Kometani K, Onishi R, Carpino N, Ohara O, Kurosaki T, Phua KK, Saito T.

Sci Signal. 2019 Feb 5;12(567). pii: eaav4373. doi: 10.1126/scisignal.aav4373.

PMID:
30723173
8.

PLD4 is a genetic determinant to systemic lupus erythematosus and involved in murine autoimmune phenotypes.

Akizuki S, Ishigaki K, Kochi Y, Law SM, Matsuo K, Ohmura K, Suzuki A, Nakayama M, Iizuka Y, Koseki H, Ohara O, Hirata J, Kamatani Y, Matsuda F, Sumida T, Yamamoto K, Okada Y, Mimori T, Terao C.

Ann Rheum Dis. 2019 Apr;78(4):509-518. doi: 10.1136/annrheumdis-2018-214116. Epub 2019 Jan 24.

PMID:
30679154
9.

Dysregulated fatty acid metabolism in nasal polyp-derived eosinophils from patients with chronic rhinosinusitis.

Miyata J, Fukunaga K, Kawashima Y, Watanabe T, Saitoh A, Hirosaki T, Araki Y, Kikawada T, Betsuyaku T, Ohara O, Arita M.

Allergy. 2019 Jun;74(6):1113-1124. doi: 10.1111/all.13726. Epub 2019 Feb 26.

PMID:
30667533
10.

Mosaicism of an ELANE Mutation in an Asymptomatic Mother.

Shigemura T, Kobayashi N, Agematsu K, Ohara O, Nakazawa Y.

J Clin Immunol. 2019 Jan;39(1):106-111. doi: 10.1007/s10875-018-0580-1. Epub 2019 Jan 12.

PMID:
30635825
11.

Genetic and transcriptional landscape of plasma cells in POEMS syndrome.

Nagao Y, Mimura N, Takeda J, Yoshida K, Shiozawa Y, Oshima M, Aoyama K, Saraya A, Koide S, Rizq O, Hasegawa Y, Shiraishi Y, Chiba K, Tanaka H, Nishijima D, Isshiki Y, Kayamori K, Kawajiri-Manako C, Oshima-Hasegawa N, Tsukamoto S, Mitsukawa S, Takeda Y, Ohwada C, Takeuchi M, Iseki T, Misawa S, Miyano S, Ohara O, Yokote K, Sakaida E, Kuwabara S, Sanada M, Iwama A, Ogawa S, Nakaseko C.

Leukemia. 2019 Jul;33(7):1723-1735. doi: 10.1038/s41375-018-0348-x. Epub 2019 Jan 11.

PMID:
30635632
12.

Obesity Drives STAT-1-Dependent NASH and STAT-3-Dependent HCC.

Grohmann M, Wiede F, Dodd GT, Gurzov EN, Ooi GJ, Butt T, Rasmiena AA, Kaur S, Gulati T, Goh PK, Treloar AE, Archer S, Brown WA, Muller M, Watt MJ, Ohara O, McLean CA, Tiganis T.

Cell. 2018 Nov 15;175(5):1289-1306.e20. doi: 10.1016/j.cell.2018.09.053. Epub 2018 Oct 25.

13.

Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S.

Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19.

PMID:
30451973
14.

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, Kawasaki Y, Ichishima J, Osawa M, Nihira H, Shiba T, Tanaka T, Chrabieh M, Bigio B, Hur H, Itan Y, Liang Y, Okada S, Izawa K, Nishikomori R, Ohara O, Heike T, Abel L, Puel A, Saito MK, Casanova JL, Hagiwara M, Yasumi T.

J Clin Invest. 2019 Feb 1;129(2):583-597. doi: 10.1172/JCI124011. Epub 2018 Dec 18.

15.

Proteogenomic Analyses of Cellular Lysates Using a Phenol-Guanidinium Thiocyanate Reagent.

Kawashima Y, Miyata J, Watanabe T, Shioya J, Arita M, Ohara O.

J Proteome Res. 2019 Jan 4;18(1):301-308. doi: 10.1021/acs.jproteome.8b00609. Epub 2018 Nov 12.

PMID:
30394753
16.

Clinical and Immunological Characterization of ICF Syndrome in Japan.

Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, Kanegane H, Nonoyama S.

J Clin Immunol. 2018 Nov;38(8):927-937. doi: 10.1007/s10875-018-0559-y. Epub 2018 Oct 23.

PMID:
30353301
17.

Development of a NanoLC-MS/MS System Using a Nonporous Reverse Phase Column for Ultrasensitive Proteome Analysis.

Kawashima Y, Ohara O.

Anal Chem. 2018 Nov 6;90(21):12334-12338. doi: 10.1021/acs.analchem.8b03382. Epub 2018 Oct 16.

PMID:
30350605
18.

Generation of orthotopically functional salivary gland from embryonic stem cells.

Tanaka J, Ogawa M, Hojo H, Kawashima Y, Mabuchi Y, Hata K, Nakamura S, Yasuhara R, Takamatsu K, Irié T, Fukada T, Sakai T, Inoue T, Nishimura R, Ohara O, Saito I, Ohba S, Tsuji T, Mishima K.

Nat Commun. 2018 Oct 11;9(1):4216. doi: 10.1038/s41467-018-06469-7.

19.

Sox12 promotes T reg differentiation in the periphery during colitis.

Tanaka S, Suto A, Iwamoto T, Kageyama T, Tamachi T, Takatori H, Suzuki K, Hirose K, Ohara O, Lefebvre V, Nakajima H.

J Exp Med. 2018 Oct 1;215(10):2509-2519. doi: 10.1084/jem.20172082. Epub 2018 Sep 6.

20.

Variant PRC1 competes with retinoic acid-related signals to repress Meis2 in the mouse distal forelimb bud.

Yakushiji-Kaminatsui N, Kondo T, Hironaka KI, Sharif J, Endo TA, Nakayama M, Masui O, Koseki Y, Kondo K, Ohara O, Vidal M, Morishita Y, Koseki H.

Development. 2018 Oct 11;145(19). pii: dev166348. doi: 10.1242/dev.166348.

21.

Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema.

Iwanami K, Okano T, Ohara O, Morio T.

Intern Med. 2019 Jan 15;58(2):213-216. doi: 10.2169/internalmedicine.1559-18. Epub 2018 Aug 24.

22.

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.

Lee T, Misaki M, Shimomura H, Tanaka Y, Yoshida S, Murayama K, Nakamura K, Fujiki R, Ohara O, Sasai H, Fukao T, Takeshima Y.

Hum Genome Var. 2018 Aug 16;5:22. doi: 10.1038/s41439-018-0022-x. eCollection 2018.

23.

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.

Rawat A, Mathew B, Pandiarajan V, Jindal A, Sharma M, Suri D, Gupta A, Goel S, Karim A, Saikia B, Minz RW, Imai K, Nonoyama S, Ohara O, Giliani SC, Notarangelo LD, Chan KW, Lau YL, Singh S.

Clin Immunol. 2018 Oct;195:59-66. doi: 10.1016/j.clim.2018.07.013. Epub 2018 Jul 25.

PMID:
30053428
24.

Challenges in Developing Protein Secretion Assays at a Single-Cell Level.

Shirasaki Y, Ohara O.

Methods Mol Biol. 2018;1808:1-7. doi: 10.1007/978-1-4939-8567-8_1. Review.

PMID:
29956169
25.

Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing.

Fujiki R, Ikeda M, Yoshida A, Akiko M, Yao Y, Nishimura M, Matsushita K, Ichikawa T, Tanaka T, Morisaki H, Morisaki T, Ohara O.

J Mol Diagn. 2018 Sep;20(5):572-582. doi: 10.1016/j.jmoldx.2018.04.004. Epub 2018 Jun 25.

PMID:
29953964
26.

Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.

Maeda A, Yoshida A, Kawai K, Arai Y, Akiba R, Inaba A, Takagi S, Fujiki R, Hirami Y, Kurimoto Y, Ohara O, Takahashi M.

Jpn J Ophthalmol. 2018 Jul;62(4):451-457. doi: 10.1007/s10384-018-0601-x. Epub 2018 May 21.

PMID:
29785639
27.

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.

Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Kamae C, Honma K, Mitsui-Sekinaka K, Sekinaka Y, Kato T, Hanabusa K, Endo E, Takashima T, Hiroki H, Yeh TW, Tanaka K, Nagahori M, Tsuge I, Bando Y, Iwasaki F, Shikama Y, Inoue M, Kimoto T, Moriguchi N, Yuza Y, Kaneko T, Suzuki K, Matsubara T, Maruo Y, Kunitsu T, Waragai T, Sano H, Hashimoto Y, Tasaki K, Suzuki O, Shirakawa T, Kato M, Uchiyama T, Ishimura M, Tauchi T, Yagasaki H, Jou ST, Yu HH, Kanegane H, Kracker S, Durandy A, Kojima D, Muramatsu H, Wada T, Inoue Y, Takada H, Kojima S, Ogawa S, Ohara O, Nonoyama S, Morio T.

J Allergy Clin Immunol. 2019 Jan;143(1):266-275. doi: 10.1016/j.jaci.2018.04.032. Epub 2018 May 18.

PMID:
29778502
28.

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Ono S, Nakayama M, Kanegane H, Hoshino A, Shimodera S, Shibata H, Fujino H, Fujino T, Yunomae Y, Okano T, Yamashita M, Yasumi T, Izawa K, Takagi M, Imai K, Zhang K, Marsh R, Picard C, Latour S, Ohara O, Morio T.

Int J Hematol. 2018 Sep;108(3):319-328. doi: 10.1007/s12185-018-2475-6. Epub 2018 May 18.

PMID:
29777376
29.

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.

Asano T, Okada S, Tsumura M, Yeh TW, Mitsui-Sekinaka K, Tsujita Y, Ichinose Y, Shimada A, Hashimoto K, Wada T, Imai K, Ohara O, Morio T, Nonoyama S, Kobayashi M.

Front Immunol. 2018 Apr 5;9:568. doi: 10.3389/fimmu.2018.00568. eCollection 2018.

30.

Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3.

Hiejima E, Shibata H, Yasumi T, Shimodera S, Hori M, Izawa K, Kawai T, Matsuoka M, Kojima Y, Ohara A, Nishikomori R, Ohara O, Heike T.

Clin Immunol. 2018 Jun;191:63-66. doi: 10.1016/j.clim.2018.03.012. Epub 2018 Mar 26.

PMID:
29596912
31.

Deregulated Mucosal Immune Surveillance through Gut-Associated Regulatory T Cells and PD-1+ T Cells in Human Colorectal Cancer.

Fujimoto H, Saito Y, Ohuchida K, Kawakami E, Fujiki S, Watanabe T, Ono R, Kaneko A, Takagi S, Najima Y, Hijikata A, Cui L, Ueki T, Oda Y, Hori S, Ohara O, Nakamura M, Saito T, Ishikawa F.

J Immunol. 2018 May 1;200(9):3291-3303. doi: 10.4049/jimmunol.1701222. Epub 2018 Mar 26.

32.

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.

Shibata H, Yasumi T, Shimodera S, Hiejima E, Izawa K, Kawai T, Shirakawa R, Wada T, Nishikomori R, Horiuchi H, Ohara O, Ishii E, Heike T.

Blood. 2018 May 3;131(18):2016-2025. doi: 10.1182/blood-2017-10-812503. Epub 2018 Mar 16.

33.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL.

Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019.

34.

Identification of Protein Targets of 12/15-Lipoxygenase-Derived Lipid Electrophiles in Mouse Peritoneal Macrophages Using Omega-Alkynyl Fatty Acid.

Isobe Y, Kawashima Y, Ishihara T, Watanabe K, Ohara O, Arita M.

ACS Chem Biol. 2018 Apr 20;13(4):887-893. doi: 10.1021/acschembio.7b01092. Epub 2018 Mar 1.

PMID:
29461797
35.

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.

Tanaka T, Yoshioka K, Nishikomori R, Sakai H, Abe J, Yamashita Y, Hiramoto R, Morimoto A, Ishii E, Arakawa H, Kaneko U, Ohshima Y, Okamoto N, Ohara O, Hata I, Shigematsu Y, Kawai T, Yasumi T, Heike T.

Mod Rheumatol. 2019 Jan;29(1):181-187. doi: 10.1080/14397595.2018.1442639. Epub 2018 Mar 2.

PMID:
29451047
36.

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.

Ieda D, Hori I, Nakamura Y, Ohshita H, Negishi Y, Shinohara T, Hattori A, Kato T, Inukai S, Kitamura K, Kawai T, Ohara O, Kunishima S, Saitoh S.

Brain Dev. 2018 Jun;40(6):489-492. doi: 10.1016/j.braindev.2018.01.010. Epub 2018 Feb 12.

PMID:
29449050
37.

Generation of safe and therapeutically effective human induced pluripotent stem cell-derived hepatocyte-like cells for regenerative medicine.

Takayama K, Akita N, Mimura N, Akahira R, Taniguchi Y, Ikeda M, Sakurai F, Ohara O, Morio T, Sekiguchi K, Mizuguchi H.

Hepatol Commun. 2017 Oct 12;1(10):1058-1069. doi: 10.1002/hep4.1111. eCollection 2017 Dec.

38.

Rbm10 regulates inflammation development via alternative splicing of Dnmt3b.

Atsumi T, Suzuki H, Jiang JJ, Okuyama Y, Nakagawa I, Ota M, Tanaka Y, Ohki T, Katsunuma K, Nakajima K, Hasegawa Y, Ohara O, Ogura H, Arima Y, Kamimura D, Murakami M.

Int Immunol. 2017 Dec 31;29(12):581-591. doi: 10.1093/intimm/dxx067.

PMID:
29309623
39.

NK cell and IFN signatures are positive prognostic biomarkers for resectable pancreatic cancer.

Hoshikawa M, Aoki T, Matsushita H, Karasaki T, Hosoi A, Odaira K, Fujieda N, Kobayashi Y, Kambara K, Ohara O, Arita J, Hasegawa K, Kakimi K, Kokudo N.

Biochem Biophys Res Commun. 2018 Jan 8;495(2):2058-2065. doi: 10.1016/j.bbrc.2017.12.083. Epub 2017 Dec 15.

PMID:
29253566
40.

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.

Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H.

J Allergy Clin Immunol. 2018 Apr;141(4):1485-1488.e11. doi: 10.1016/j.jaci.2017.10.039. Epub 2017 Dec 11. No abstract available.

PMID:
29241730
41.

Requirement of zinc transporter ZIP10 for epidermal development: Implication of the ZIP10-p63 axis in epithelial homeostasis.

Bin BH, Bhin J, Takaishi M, Toyoshima KE, Kawamata S, Ito K, Hara T, Watanabe T, Irié T, Takagishi T, Lee SH, Jung HS, Rho S, Seo J, Choi DH, Hwang D, Koseki H, Ohara O, Sano S, Tsuji T, Mishima K, Fukada T.

Proc Natl Acad Sci U S A. 2017 Nov 14;114(46):12243-12248. doi: 10.1073/pnas.1710726114. Epub 2017 Oct 23.

42.

Overcoming mutational complexity in acute myeloid leukemia by inhibition of critical pathways.

Saito Y, Mochizuki Y, Ogahara I, Watanabe T, Hogdal L, Takagi S, Sato K, Kaneko A, Kajita H, Uchida N, Fukami T, Shultz LD, Taniguchi S, Ohara O, Letai AG, Ishikawa F.

Sci Transl Med. 2017 Oct 25;9(413). pii: eaao1214. doi: 10.1126/scitranslmed.aao1214.

43.

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Nakayama M, Oda H, Nakagawa K, Yasumi T, Kawai T, Izawa K, Nishikomori R, Heike T, Ohara O.

Biochem Biophys Rep. 2016 Dec 23;9:146-152. doi: 10.1016/j.bbrep.2016.12.002. eCollection 2017 Mar.

44.

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M.

Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31.

PMID:
28801073
45.

Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

Ohnishi H, Kishimoto Y, Taguchi T, Kawamoto N, Nakama M, Kawai T, Nakayama M, Ohara O, Orii K, Fukao T.

J Clin Immunol. 2017 Aug;37(6):529-538. doi: 10.1007/s10875-017-0417-3. Epub 2017 Jul 12.

PMID:
28702714
46.

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, Fukao T.

J Inherit Metab Dis. 2017 Nov;40(6):845-852. doi: 10.1007/s10545-017-0065-z. Epub 2017 Jul 10.

PMID:
28695376
47.

EPC1/TIP60-Mediated Histone Acetylation Facilitates Spermiogenesis in Mice.

Dong Y, Isono KI, Ohbo K, Endo TA, Ohara O, Maekawa M, Toyama Y, Ito C, Toshimori K, Helin K, Ogonuki N, Inoue K, Ogura A, Yamagata K, Kitabayashi I, Koseki H.

Mol Cell Biol. 2017 Sep 12;37(19). pii: e00082-17. doi: 10.1128/MCB.00082-17. Print 2017 Oct 1.

48.

A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

Nishimura M, Ueda M, Ebata R, Utsuno E, Ishii T, Matsushita K, Ohara O, Shimojo N, Kobayashi Y, Nomura F.

BMC Med Genet. 2017 Jun 8;18(1):66. doi: 10.1186/s12881-017-0430-7.

49.

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases.

Matsuhashi T, Sato T, Kanno SI, Suzuki T, Matsuo A, Oba Y, Kikusato M, Ogasawara E, Kudo T, Suzuki K, Ohara O, Shimbo H, Nanto F, Yamaguchi H, Saigusa D, Mukaiyama Y, Watabe A, Kikuchi K, Shima H, Mishima E, Akiyama Y, Oikawa Y, Hsin-Jung HO, Akiyama Y, Suzuki C, Uematsu M, Ogata M, Kumagai N, Toyomizu M, Hozawa A, Mano N, Owada Y, Aiba S, Yanagisawa T, Tomioka Y, Kure S, Ito S, Nakada K, Hayashi KI, Osaka H, Abe T.

EBioMedicine. 2017 Jun;20:27-38. doi: 10.1016/j.ebiom.2017.05.016. Epub 2017 May 13.

50.

Common Variable Immunodeficiency Caused by FANC Mutations.

Sekinaka Y, Mitsuiki N, Imai K, Yabe M, Yabe H, Mitsui-Sekinaka K, Honma K, Takagi M, Arai A, Yoshida K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Muramatsu H, Kojima S, Hira A, Takata M, Ohara O, Ogawa S, Morio T, Nonoyama S.

J Clin Immunol. 2017 Jul;37(5):434-444. doi: 10.1007/s10875-017-0396-4. Epub 2017 May 11.

PMID:
28493158

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