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Items: 1 to 50 of 118

1.

GATA-2-deficient mast cells limit IgE-mediated immediate hypersensitivity reactions in human subjects.

Desai A, Sowerwine K, Liu Y, Lawrence MG, Chovanec J, Hsu AP, O'Connell MP, Kim J, Boris L, Jones N, Wisch L, Eisch RR, Carter MC, Komarow HD, Zerbe C, Milner JD, Maric I, Sun X, Lee CR, Tunc I, Pirooznia M, Stone KD, Holland SM, Metcalfe DD, Lyons JJ.

J Allergy Clin Immunol. 2019 May 15. pii: S0091-6749(19)30624-4. doi: 10.1016/j.jaci.2019.05.007. [Epub ahead of print] No abstract available.

PMID:
31102699
2.

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.

Frizinsky S, Rechavi E, Barel O, Najeeb RH, Greenberger S, Lee YN, Simon AJ, Lev A, Ma CA, Sun G, Blackstone SA, Milner JD, Somech R, Stauber T.

J Clin Immunol. 2019 May;39(4):401-413. doi: 10.1007/s10875-019-00629-0. Epub 2019 Apr 29.

PMID:
31037583
3.

Editorial: Continued Fascination-A Tribute to a Giant in Immunology, Dr. William E. Paul.

Milner JD, Zhu J, Paul M.

Front Immunol. 2019 Mar 8;10:354. doi: 10.3389/fimmu.2019.00354. eCollection 2019. No abstract available.

4.

Retinoic Acid Receptor Alpha Represses a Th9 Transcriptional and Epigenomic Program to Reduce Allergic Pathology.

Schwartz DM, Farley TK, Richoz N, Yao C, Shih HY, Petermann F, Zhang Y, Sun HW, Hayes E, Mikami Y, Jiang K, Davis FP, Kanno Y, Milner JD, Siegel R, Laurence A, Meylan F, O'Shea JJ.

Immunity. 2019 Jan 15;50(1):106-120.e10. doi: 10.1016/j.immuni.2018.12.014.

PMID:
30650370
5.

IgE testing can predict food allergy status in patients with moderate to severe atopic dermatitis.

Frischmeyer-Guerrerio PA, Rasooly M, Gu W, Levin S, Jhamnani RD, Milner JD, Stone K, Guerrerio AL, Jones J, Borres MP, Brittain E.

Ann Allergy Asthma Immunol. 2019 Apr;122(4):393-400.e2. doi: 10.1016/j.anai.2019.01.001. Epub 2019 Jan 10.

PMID:
30639434
6.

The clinical and mechanistic intersection of primary atopic disorders and inborn errors of growth and metabolism.

Lyons JJ, Milner JD.

Immunol Rev. 2019 Jan;287(1):135-144. doi: 10.1111/imr.12727. Review.

PMID:
30565252
7.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN.

Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.

8.

The overlap between allergy and immunodeficiency.

Sokol K, Milner JD.

Curr Opin Pediatr. 2018 Dec;30(6):848-854. doi: 10.1097/MOP.0000000000000697.

PMID:
30407976
9.

Functional characterization of phospholipase C-γ2 mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder.

Walliser C, Wist M, Hermkes E, Zhou Y, Schade A, Haas J, Deinzer J, Désiré L, Li SSC, Stilgenbauer S, Milner JD, Gierschik P.

Oncotarget. 2018 Sep 28;9(76):34357-34378. doi: 10.18632/oncotarget.26173. eCollection 2018 Sep 28.

10.

The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.

Lu HY, Bauman BM, Arjunaraja S, Dorjbal B, Milner JD, Snow AL, Turvey SE.

Front Immunol. 2018 Sep 19;9:2078. doi: 10.3389/fimmu.2018.02078. eCollection 2018. Review.

11.

Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.

Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E.

J Allergy Clin Immunol. 2019 Jan;143(1):173-181.e10. doi: 10.1016/j.jaci.2018.09.002. Epub 2018 Sep 21.

PMID:
30248356
12.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.

Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL.

J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28.

PMID:
30170123
13.

Internet accuracy of publicly available images of meniscal tears.

DeFroda SF, Milner JD, Bokshan SL, Owens BD.

Phys Sportsmed. 2018 Nov;46(4):499-502. doi: 10.1080/00913847.2018.1513755. Epub 2018 Aug 31.

PMID:
30141358
14.

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.

Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, Plant AS, Su HC, Allenspach EJ, Slatter M, Abinun M, Lilic D, Cunningham-Rundles C, Eckstein O, Olbrich P, Guillerman RP, Patel NC, Demirdag YY, Zerbe C, Freeman AF, Holland SM, Szabolcs P, Gennery A, Torgerson TR, Milner JD, Leiding JW.

J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669. doi: 10.1016/j.jaci.2018.07.020. Epub 2018 Aug 6. No abstract available.

PMID:
30092289
15.

Human TH9 differentiation is dependent on signal transducer and activator of transcription (STAT) 3 to restrain STAT1-mediated inhibition.

Zhang Y, Siegel AM, Sun G, Dimaggio T, Freeman AF, Milner JD.

J Allergy Clin Immunol. 2019 Mar;143(3):1108-1118.e4. doi: 10.1016/j.jaci.2018.06.036. Epub 2018 Jul 18.

PMID:
30030006
16.

Mast cell activation syndrome: Importance of consensus criteria and call for research.

Valent P, Akin C, Bonadonna P, Hartmann K, Broesby-Olsen S, Brockow K, Butterfield JH, Reiter A, Gotlib J, Castells M, Milner JD, Carter MC, Komarow H, Radia D, Pardanani A, Sotlar K, Triggiani M, Horny HP, Arock M, Schwartz LB, Metcalfe DD.

J Allergy Clin Immunol. 2018 Sep;142(3):1008-1010. doi: 10.1016/j.jaci.2018.06.004. Epub 2018 Jun 19. No abstract available.

PMID:
29928922
17.

Dual Roles for Ikaros in Regulation of Macrophage Chromatin State and Inflammatory Gene Expression.

Oh KS, Gottschalk RA, Lounsbury NW, Sun J, Dorrington MG, Baek S, Sun G, Wang Z, Krauss KS, Milner JD, Dutta B, Hager GL, Sung MH, Fraser IDC.

J Immunol. 2018 Jul 15;201(2):757-771. doi: 10.4049/jimmunol.1800158. Epub 2018 Jun 13.

PMID:
29898962
18.

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.

Natarajan M, Hsu AP, Weinreich MA, Zhang Y, Niemela JE, Butman JA, Pittaluga S, Sugui J, Collar AL, Lim JK, Zangeneh T, Carr T, Oler AJ, Similuk M, Rosen LB, Desai JV, Freeman AF, Holland SM, Kwon-Chung KJ, Milner JD, Lionakis MS.

J Allergy Clin Immunol. 2018 Sep;142(3):993-997.e3. doi: 10.1016/j.jaci.2018.05.009. Epub 2018 May 24. No abstract available.

PMID:
29803798
19.

First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease.

Sabato V, Chovanec J, Faber M, Milner JD, Ebo D, Lyons JJ.

J Clin Immunol. 2018 May;38(4):457-459. doi: 10.1007/s10875-018-0506-y. Epub 2018 May 11. No abstract available.

PMID:
29748908
20.

TCR Signaling Abnormalities in Human Th2-Associated Atopic Disease.

Milner JD.

Front Immunol. 2018 Apr 16;9:719. doi: 10.3389/fimmu.2018.00719. eCollection 2018. Review.

21.

Primary atopic disorders.

Lyons JJ, Milner JD.

J Exp Med. 2018 Apr 2;215(4):1009-1022. doi: 10.1084/jem.20172306. Epub 2018 Mar 16. Review.

22.

Molecular signatures of circulating melanoma cells for monitoring early response to immune checkpoint therapy.

Hong X, Sullivan RJ, Kalinich M, Kwan TT, Giobbie-Hurder A, Pan S, LiCausi JA, Milner JD, Nieman LT, Wittner BS, Ho U, Chen T, Kapur R, Lawrence DP, Flaherty KT, Sequist LV, Ramaswamy S, Miyamoto DT, Lawrence M, Toner M, Isselbacher KJ, Maheswaran S, Haber DA.

Proc Natl Acad Sci U S A. 2018 Mar 6;115(10):2467-2472. doi: 10.1073/pnas.1719264115. Epub 2018 Feb 16.

23.

Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions.

Milner JD.

Rambam Maimonides Med J. 2018 Jan 29;9(1). doi: 10.5041/RMMJ.10326. Review.

24.

Clonally expanded γδ T cells protect against Staphylococcus aureus skin reinfection.

Dillen CA, Pinsker BL, Marusina AI, Merleev AA, Farber ON, Liu H, Archer NK, Lee DB, Wang Y, Ortines RV, Lee SK, Marchitto MC, Cai SS, Ashbaugh AG, May LS, Holland SM, Freeman AF, Miller LG, Yeaman MR, Simon SI, Milner JD, Maverakis E, Miller LS.

J Clin Invest. 2018 Mar 1;128(3):1026-1042. doi: 10.1172/JCI96481. Epub 2018 Feb 5.

25.

Impact of food allergy on the growth of children with moderate-severe atopic dermatitis.

Jhamnani RD, Levin S, Rasooly M, Stone KD, Milner JD, Nelson C, DiMaggio T, Jones N, Guerrerio AL, Frischmeyer-Guerrerio PA.

J Allergy Clin Immunol. 2018 Apr;141(4):1526-1529.e4. doi: 10.1016/j.jaci.2017.11.056. Epub 2018 Feb 21. No abstract available.

26.

An RNA-Based Digital Circulating Tumor Cell Signature Is Predictive of Drug Response and Early Dissemination in Prostate Cancer.

Miyamoto DT, Lee RJ, Kalinich M, LiCausi JA, Zheng Y, Chen T, Milner JD, Emmons E, Ho U, Broderick K, Silva E, Javaid S, Kwan TT, Hong X, Dahl DM, McGovern FJ, Efstathiou JA, Smith MR, Sequist LV, Kapur R, Wu CL, Stott SL, Ting DT, Giobbie-Hurder A, Toner M, Maheswaran S, Haber DA.

Cancer Discov. 2018 Mar;8(3):288-303. doi: 10.1158/2159-8290.CD-16-1406. Epub 2018 Jan 4.

27.

Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg ND, Meffre E, Gelfand EW, Snow AL, Milner JD.

Nat Genet. 2017 Oct 27;49(11):1661. doi: 10.1038/ng1117-1661b.

PMID:
29074947
28.

Persistent tryptase elevation in a patient with Gaucher disease.

Schussler E, Yang A, Lyons JJ, Milner JD, Wang J.

J Allergy Clin Immunol Pract. 2018 Mar - Apr;6(2):697-699. doi: 10.1016/j.jaip.2017.08.039. Epub 2017 Oct 13. No abstract available.

PMID:
29033258
29.

A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.

Lyons JJ, Stotz SC, Chovanec J, Liu Y, Lewis KL, Nelson C, DiMaggio T, Jones N, Stone KD, Sung H, Biesecker LG, Colicos MA, Milner JD.

Genet Med. 2018 Apr;20(5):503-512. doi: 10.1038/gim.2017.136. Epub 2017 Sep 21.

PMID:
28933792
30.

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Müller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH.

J Exp Med. 2017 Sep 4;214(9):2547-2562. doi: 10.1084/jem.20161810. Epub 2017 Jul 26.

31.

PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients.

Zhang Y, Ma CA, Lawrence MG, Break TJ, O'Connell MP, Lyons JJ, López DB, Barber JS, Zhao Y, Barber DL, Freeman AF, Holland SM, Lionakis MS, Milner JD.

J Exp Med. 2017 Sep 4;214(9):2523-2533. doi: 10.1084/jem.20161427. Epub 2017 Jul 14.

32.

Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations.

Tangye SG, Forbes LR, Leiding J, Preece K, Kumar AR, Gambineri E, Milner JD, Cooper MA, Seppänen M.

Clin Chem. 2017 Sep;63(9):1539-1540. doi: 10.1373/clinchem.2017.273458. Epub 2017 Jun 30. No abstract available.

33.

Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD.

Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Erratum in: Nat Genet. 2017 Oct 27;49(11):1661.

34.

Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant.

Weinreich MA, Vogel TP, Rao VK, Milner JD.

Front Pediatr. 2017 Mar 13;5:49. doi: 10.3389/fped.2017.00049. eCollection 2017.

35.

Correction: ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD.

J Exp Med. 2017 Apr 3;214(4):1201. doi: 10.1084/jem.2016143503082017c. Epub 2017 Mar 13. No abstract available.

36.

Expression of β-globin by cancer cells promotes cell survival during blood-borne dissemination.

Zheng Y, Miyamoto DT, Wittner BS, Sullivan JP, Aceto N, Jordan NV, Yu M, Karabacak NM, Comaills V, Morris R, Desai R, Desai N, Emmons E, Milner JD, Lee RJ, Wu CL, Sequist LV, Haas W, Ting DT, Toner M, Ramaswamy S, Maheswaran S, Haber DA.

Nat Commun. 2017 Feb 9;8:14344. doi: 10.1038/ncomms14344.

37.

ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD.

J Exp Med. 2017 Mar 6;214(3):669-680. doi: 10.1084/jem.20161435. Epub 2017 Jan 26. Erratum in: J Exp Med. 2017 Apr 3;214(4):1201.

38.

An RNA-based signature enables high specificity detection of circulating tumor cells in hepatocellular carcinoma.

Kalinich M, Bhan I, Kwan TT, Miyamoto DT, Javaid S, LiCausi JA, Milner JD, Hong X, Goyal L, Sil S, Choz M, Ho U, Kapur R, Muzikansky A, Zhang H, Weitz DA, Sequist LV, Ryan DP, Chung RT, Zhu AX, Isselbacher KJ, Ting DT, Toner M, Maheswaran S, Haber DA.

Proc Natl Acad Sci U S A. 2017 Jan 31;114(5):1123-1128. doi: 10.1073/pnas.1617032114. Epub 2017 Jan 17.

39.

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, Nelson C, DiMaggio T, Jones N, Rosenzweig SD, Stone KD, Freeman AF, Holland SM, Hanover JA, Milner JD, Lyons JJ.

J Allergy Clin Immunol. 2017 Jul;140(1):291-294.e4. doi: 10.1016/j.jaci.2016.12.951. Epub 2017 Jan 4. No abstract available.

40.

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.

Ma CA, Xi L, Cauff B, DeZure A, Freeman AF, Hambleton S, Kleiner G, Leahy TR, O'Sullivan M, Makiya M, O'Regan G, Pittaluga S, Niemela J, Stoddard J, Rosenzweig SD, Raffeld M, Klion AD, Milner JD.

Blood. 2017 Feb 2;129(5):650-653. doi: 10.1182/blood-2016-09-737817. Epub 2016 Dec 12. No abstract available.

41.

Atopic Dermatitis and Allergic Urticaria: Cutaneous Manifestations of Immunodeficiency.

Gaudinski MR, Milner JD.

Immunol Allergy Clin North Am. 2017 Feb;37(1):1-10. doi: 10.1016/j.iac.2016.08.016. Epub 2016 Oct 28. Review.

42.

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.

Lyons JJ, Yu X, Hughes JD, Le QT, Jamil A, Bai Y, Ho N, Zhao M, Liu Y, O'Connell MP, Trivedi NN, Nelson C, DiMaggio T, Jones N, Matthews H, Lewis KL, Oler AJ, Carlson RJ, Arkwright PD, Hong C, Agama S, Wilson TM, Tucker S, Zhang Y, McElwee JJ, Pao M, Glover SC, Rothenberg ME, Hohman RJ, Stone KD, Caughey GH, Heller T, Metcalfe DD, Biesecker LG, Schwartz LB, Milner JD.

Nat Genet. 2016 Dec;48(12):1564-1569. doi: 10.1038/ng.3696. Epub 2016 Oct 17.

43.

Extrapulmonary Aspergillus infection in patients with CARD9 deficiency.

Rieber N, Gazendam RP, Freeman AF, Hsu AP, Collar AL, Sugui JA, Drummond RA, Rongkavilit C, Hoffman K, Henderson C, Clark L, Mezger M, Swamydas M, Engeholm M, Schüle R, Neumayer B, Ebel F, Mikelis CM, Pittaluga S, Prasad VK, Singh A, Milner JD, Williams KW, Lim JK, Kwon-Chung KJ, Holland SM, Hartl D, Kuijpers TW, Lionakis MS.

JCI Insight. 2016 Oct 20;1(17):e89890. doi: 10.1172/jci.insight.89890.

44.

FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy.

Lexmond WS, Goettel JA, Lyons JJ, Jacobse J, Deken MM, Lawrence MG, DiMaggio TH, Kotlarz D, Garabedian E, Sackstein P, Nelson CC, Jones N, Stone KD, Candotti F, Rings EH, Thrasher AJ, Milner JD, Snapper SB, Fiebiger E.

J Clin Invest. 2016 Oct 3;126(10):4030-4044. doi: 10.1172/JCI85129. Epub 2016 Sep 19.

45.

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I.

Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32. doi: 10.1073/pnas.1612594113. Epub 2016 Aug 24.

46.

Spinal Cord Inflammation: Molecular Imaging after Thoracic Aortic Ischemia Reperfusion Injury.

Albadawi H, Chen JW, Oklu R, Wu Y, Wojtkiewicz G, Pulli B, Milner JD, Cambria RP, Watkins MT.

Radiology. 2017 Jan;282(1):202-211. doi: 10.1148/radiol.2016152222. Epub 2016 Aug 10.

47.

Cool-temperature-mediated activation of phospholipase C-γ2 in the human hereditary disease PLAID.

Schade A, Walliser C, Wist M, Haas J, Vatter P, Kraus JM, Filingeri D, Havenith G, Kestler HA, Milner JD, Gierschik P.

Cell Signal. 2016 Sep;28(9):1237-51. doi: 10.1016/j.cellsig.2016.05.010. Epub 2016 May 17.

PMID:
27196803
48.

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group.

Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25.

49.

Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis.

Hox V, O'Connell MP, Lyons JJ, Sackstein P, Dimaggio T, Jones N, Nelson C, Boehm M, Holland SM, Freeman AF, Tweardy DJ, Olivera A, Metcalfe DD, Milner JD.

J Allergy Clin Immunol. 2016 Jul;138(1):187-99. doi: 10.1016/j.jaci.2015.11.024. Epub 2016 Mar 2. Erratum in: J Allergy Clin Immunol. 2017 Jul;140(1):320.

50.

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.

Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, P Hanson E, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I.

Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7.

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