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BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
Afzali B, Grönholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence ADJ. Afzali B, et al. Among authors: uhlig hh. Nat Immunol. 2017 Jul;18(7):813-823. doi: 10.1038/ni.3753. Epub 2017 May 22. Nat Immunol. 2017. PMID: 28530713 Free PMC article.
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
Chen HH, Händel N, Ngeow J, Muller J, Hühn M, Yang HT, Heindl M, Berbers RM, Hegazy AN, Kionke J, Yehia L, Sack U, Bläser F, Rensing-Ehl A, Reifenberger J, Keith J, Travis S, Merkenschlager A, Kiess W, Wittekind C, Walker L, Ehl S, Aretz S, Dustin ML, Eng C, Powrie F, Uhlig HH. Chen HH, et al. Among authors: uhlig hh. J Allergy Clin Immunol. 2017 Feb;139(2):607-620.e15. doi: 10.1016/j.jaci.2016.03.059. Epub 2016 Jun 18. J Allergy Clin Immunol. 2017. PMID: 27477328 Free PMC article.
When half a glass of STAT3 is just not enough.
Laurence AD, Uhlig HH. Laurence AD, et al. Among authors: uhlig hh. Blood. 2016 Dec 29;128(26):3020-3021. doi: 10.1182/blood-2016-11-750539. Blood. 2016. PMID: 28034865 Free article. No abstract available.
The Role of PTEN in Innate and Adaptive Immunity.
Taylor H, Laurence ADJ, Uhlig HH. Taylor H, et al. Among authors: uhlig hh. Cold Spring Harb Perspect Med. 2019 Dec 2;9(12):a036996. doi: 10.1101/cshperspect.a036996. Cold Spring Harb Perspect Med. 2019. PMID: 31501268 Free PMC article. Review.
Inborn errors of IL-6 family cytokine responses.
Chen YH, Spencer S, Laurence A, Thaventhiran JE, Uhlig HH. Chen YH, et al. Among authors: uhlig hh. Curr Opin Immunol. 2021 Oct;72:135-145. doi: 10.1016/j.coi.2021.04.007. Epub 2021 May 24. Curr Opin Immunol. 2021. PMID: 34044328 Free PMC article. Review.
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards.
Uhlig HH, Booth C, Cho J, Dubinsky M, Griffiths AM, Grimbacher B, Hambleton S, Huang Y, Jones K, Kammermeier J, Kanegane H, Koletzko S, Kotlarz D, Klein C, Lenardo MJ, Lo B, McGovern DPB, Özen A, de Ridder L, Ruemmele F, Shouval DS, Snapper SB, Travis SP, Turner D, Wilson DC, Muise AM. Uhlig HH, et al. Nat Rev Gastroenterol Hepatol. 2023 Dec;20(12):810-828. doi: 10.1038/s41575-023-00838-4. Epub 2023 Oct 3. Nat Rev Gastroenterol Hepatol. 2023. PMID: 37789059 Review.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G. Taylor JC, et al. Among authors: uhlig hh. Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18. Nat Genet. 2015. PMID: 25985138 Free PMC article.
173 results