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78 results

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Page 1
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. Dorjbal B, et al. Among authors: stone kd. J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28. J Allergy Clin Immunol. 2019. PMID: 30170123 Free PMC article.
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. Ma CA, et al. Among authors: stone kd. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
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. Peled A, et al. Among authors: stone kd. J Allergy Clin Immunol. 2019 Jan;143(1):173-181.e10. doi: 10.1016/j.jaci.2018.09.002. Epub 2018 Sep 21. J Allergy Clin Immunol. 2019. PMID: 30248356 Clinical Trial.
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. Carlson RJ, et al. Among authors: stone kd. J Allergy Clin Immunol. 2017 Jul;140(1):291-294.e4. doi: 10.1016/j.jaci.2016.12.951. Epub 2017 Jan 4. J Allergy Clin Immunol. 2017. PMID: 28063873 Free PMC article. No abstract available.
Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation.
Siegel AM, Stone KD, Cruse G, Lawrence MG, Olivera A, Jung MY, Barber JS, Freeman AF, Holland SM, O'Brien M, Jones N, Nelson CG, Wisch LB, Kong HH, Desai A, Farber O, Gilfillan AM, Rivera J, Milner JD. Siegel AM, et al. Among authors: stone kd. J Allergy Clin Immunol. 2013 Dec;132(6):1388-96. doi: 10.1016/j.jaci.2013.08.045. Epub 2013 Nov 1. J Allergy Clin Immunol. 2013. PMID: 24184145 Free PMC article.
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD. Zhang Y, et al. Among authors: stone kd. J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24589341 Free PMC article. Clinical Trial.
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. Jhamnani RD, et al. Among authors: stone kd. J Allergy Clin Immunol. 2018 Apr;141(4):1526-1529.e4. doi: 10.1016/j.jaci.2017.11.056. Epub 2018 Feb 21. J Allergy Clin Immunol. 2018. PMID: 29378286 Free PMC article.
Elevated IgE and atopy in patients treated for early-onset ADA-SCID.
Lawrence MG, Barber JS, Sokolic RA, Garabedian EK, Desai AN, O'Brien M, Jones N, Bali P, Hershfield MS, Stone KD, Candotti F, Milner JD. Lawrence MG, et al. Among authors: stone kd. J Allergy Clin Immunol. 2013 Dec;132(6):1444-6. doi: 10.1016/j.jaci.2013.05.040. Epub 2013 Jul 26. J Allergy Clin Immunol. 2013. PMID: 23895897 Free PMC article. No abstract available.
Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities.
Lyons JJ, Sun G, Stone KD, Nelson C, Wisch L, O'Brien M, Jones N, Lindsley A, Komarow HD, Bai Y, Scott LM, Cantave D, Maric I, Abonia JP, Rothenberg ME, Schwartz LB, Milner JD, Wilson TM. Lyons JJ, et al. Among authors: stone kd. J Allergy Clin Immunol. 2014 May;133(5):1471-4. doi: 10.1016/j.jaci.2013.11.039. Epub 2014 Jan 25. J Allergy Clin Immunol. 2014. PMID: 24472624 Free PMC article. No abstract available.
78 results