Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 78

1.

Defining a new immune deficiency syndrome: MAN2B2-CDG.

Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E.

J Allergy Clin Immunol. 2019 Nov 24. pii: S0091-6749(19)31598-2. doi: 10.1016/j.jaci.2019.11.016. [Epub ahead of print]

PMID:
31775018
2.

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.

Bosticardo M, Yamazaki Y, Cowan J, Giardino G, Corsino C, Scalia G, Prencipe R, Ruffner M, Hill DA, Sakovich I, Yemialyanava I, Tam JS, Padem N, Elder ME, Sleasman JW, Perez E, Niebur H, Seroogy CM, Sharapova S, Gebbia J, Kleiner GI, Peake J, Abbott JK, Gelfand EW, Crestani E, Biggs C, Butte MJ, Hartog N, Hayward A, Chen K, Heimall J, Seeborg F, Bartnikas LM, Cooper MA, Pignata C, Bhandoola A, Notarangelo LD.

Am J Hum Genet. 2019 Sep 5;105(3):549-561. doi: 10.1016/j.ajhg.2019.07.014. Epub 2019 Aug 22.

PMID:
31447097
3.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.

Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W, Bowen C, Döffinger R, Sinclair J, Brothers S, Zhang Y, Matthews HF, Naudion S, Pelluard F, Alajlan H, Yamazaki Y, Notarangelo LD, Thaventhiran JE, Engelhardt KR, Al-Mousa H, Hambleton S, Rooryck C, Smith KGC, Lenardo MJ.

J Exp Med. 2019 Jun 3;216(6):1311-1327. doi: 10.1084/jem.20182304. Epub 2019 Apr 30.

4.

Asthma mortality based on death certificates: A demographic survey in Kagawa, Japan.

Kamei T, Kanaji N, Nakamura H, Arakawa Y, Miyawaki H, Kishimoto N, Suzaki N, Yamamoto A, Nanki N, Yamazaki Y, Ishii T, Kohi F, Hirao T, Fujita J, Bandoh S, Hoshikawa Y.

Respir Investig. 2019 May;57(3):268-273. doi: 10.1016/j.resinv.2019.02.002. Epub 2019 Mar 1.

PMID:
30833156
5.

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN.

J Allergy Clin Immunol. 2019 Feb;143(2):726-735. doi: 10.1016/j.jaci.2018.04.027. Epub 2018 Jun 18.

6.

Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.

Rowe JH, Delmonte OM, Keles S, Stadinski BD, Dobbs AK, Henderson LA, Yamazaki Y, Allende LM, Bonilla FA, Gonzalez-Granado LI, Celikbilek Celik S, Guner SN, Kapakli H, Yee C, Pai SY, Huseby ES, Reisli I, Regueiro JR, Notarangelo LD.

Blood. 2018 May 24;131(21):2335-2344. doi: 10.1182/blood-2018-02-835561. Epub 2018 Apr 13.

7.

High-speed jaw-opening exercise in training suprahyoid fast-twitch muscle fibers.

Matsubara M, Tohara H, Hara K, Shinozaki H, Yamazaki Y, Susa C, Nakane A, Wakasugi Y, Minakuchi S.

Clin Interv Aging. 2018 Jan 22;13:125-131. doi: 10.2147/CIA.S152821. eCollection 2018.

8.

Elevation of sensitivity to anticancer agents of human lung adenocarcinoma A549 cells by knockdown of claudin-2 expression in monolayer and spheroid culture models.

Maruhashi R, Akizuki R, Sato T, Matsunaga T, Endo S, Yamaguchi M, Yamazaki Y, Sakai H, Ikari A.

Biochim Biophys Acta Mol Cell Res. 2018 Mar;1865(3):470-479. doi: 10.1016/j.bbamcr.2017.12.005. Epub 2017 Dec 13.

9.

Excessive anterior cervical muscle tone affects hyoid bone kinetics during swallowing in adults.

Yamazaki Y, Tohara H, Hara K, Nakane A, Wakasugi Y, Yamaguchi K, Minakuchi S.

Clin Interv Aging. 2017 Nov 8;12:1903-1910. doi: 10.2147/CIA.S143175. eCollection 2017. Erratum in: Clin Interv Aging. 2018 Mar 13;13:403.

10.

RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.

Westermann-Clark E, Grossi A, Fioredda F, Giardino S, Cappelli E, Terranova P, Palmisani E, Farmer JR, Foldvari Z, Yamazaki Y, Faraci M, Lanino E, Notarangelo LD, Dufour C, Ceccherini I, Walter JE, Miano M.

Clin Immunol. 2018 Feb;187:102-103. doi: 10.1016/j.clim.2017.10.012. Epub 2017 Nov 20. No abstract available.

11.

The RING finger- and PDZ domain-containing protein PDZRN3 controls localization of the Mg2+ regulator claudin-16 in renal tube epithelial cells.

Marunaka K, Furukawa C, Fujii N, Kimura T, Furuta T, Matsunaga T, Endo S, Hasegawa H, Anzai N, Yamazaki Y, Yamaguchi M, Ikari A.

J Biol Chem. 2017 Aug 4;292(31):13034-13044. doi: 10.1074/jbc.M117.779405. Epub 2017 Jun 16.

12.

Relationship between jaw opening force and hyoid bone dynamics in healthy elderly subjects.

Shinozaki H, Tohara H, Matsubara M, Inokuchi N, Yamazaki Y, Nakane A, Wakasugi Y, Minakuchi S.

Clin Interv Aging. 2017 Apr 3;12:629-634. doi: 10.2147/CIA.S130946. eCollection 2017.

13.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD.

J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1.

14.

Up-Regulation of Transient Receptor Potential Melastatin 6 Channel Expression by Tumor Necrosis Factor-α in the Presence of Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor.

Furukawa C, Fujii N, Manabe A, Matsunaga T, Endo S, Hasegawa H, Ito Y, Yamaguchi M, Yamazaki Y, Ikari A.

J Cell Physiol. 2017 Oct;232(10):2841-2850. doi: 10.1002/jcp.25709. Epub 2017 Apr 25.

PMID:
27925186
15.

Hypotonic Stress-induced Down-regulation of Claudin-1 and -2 Mediated by Dephosphorylation and Clathrin-dependent Endocytosis in Renal Tubular Epithelial Cells.

Fujii N, Matsuo Y, Matsunaga T, Endo S, Sakai H, Yamaguchi M, Yamazaki Y, Sugatani J, Ikari A.

J Biol Chem. 2016 Nov 18;291(47):24787-24799. Epub 2016 Oct 12.

16.

Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.

Cifaldi C, Scarselli A, Petricone D, Di Cesare S, Chiriaco M, Claps A, Rossi P, Calzoni E, Yamazaki Y, Notarangelo LD, Di Matteo G, Cancrini C, Finocchi A.

Clin Immunol. 2016 Dec;173:121-123. doi: 10.1016/j.clim.2016.09.013. Epub 2016 Oct 3.

PMID:
27713031
17.

Evaluation of a Quantitative Serological Assay for Diagnosing Chronic Pulmonary Aspergillosis.

Fujiuchi S, Fujita Y, Suzuki H, Doushita K, Kuroda H, Takahashi M, Yamazaki Y, Tsuji T, Fujikane T, Osanai S, Sasaki T, Ohsaki Y.

J Clin Microbiol. 2016 Jun;54(6):1496-1499. doi: 10.1128/JCM.01475-15. Epub 2016 Mar 23.

18.

Claudin-18 inhibits cell proliferation and motility mediated by inhibition of phosphorylation of PDK1 and Akt in human lung adenocarcinoma A549 cells.

Shimobaba S, Taga S, Akizuki R, Hichino A, Endo S, Matsunaga T, Watanabe R, Yamaguchi M, Yamazaki Y, Sugatani J, Ikari A.

Biochim Biophys Acta. 2016 Jun;1863(6 Pt A):1170-8. doi: 10.1016/j.bbamcr.2016.02.015. Epub 2016 Feb 24.

19.

Threonine-408 Regulates the Stability of Human Pregnane X Receptor through Its Phosphorylation and the CHIP/Chaperone-Autophagy Pathway.

Sugatani J, Noguchi Y, Hattori Y, Yamaguchi M, Yamazaki Y, Ikari A.

Drug Metab Dispos. 2016 Jan;44(1):137-50. doi: 10.1124/dmd.115.066308. Epub 2015 Nov 3.

PMID:
26534988
20.

Progression of palindromic rheumatism to juvenile idiopathic arthritis in a Japanese girl carrying heterozygous L110P-E148Q substitutions of MEFV gene.

Kobayashi I, Yamazaki Y, Tozawa Y, Ueki M, Takezaki S, Yamada M, Ariga T.

Mod Rheumatol. 2018 Mar;28(2):365-368. doi: 10.3109/14397595.2015.1106639. Epub 2015 Nov 20.

PMID:
26457478

Supplemental Content

Loading ...
Support Center