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Page 1
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.
Baris S, Benamar M, Chen Q, Catak MC, Martínez-Blanco M, Wang M, Fong J, Massaad MJ, Sefer AP, Kara A, Babayeva R, Eltan SB, Yucelten AD, Bozkurtlar E, Cinel L, Karakoc-Aydiner E, Zheng Y, Wu H, Ozen A, Schmitz-Abe K, Chatila TA. Baris S, et al. J Allergy Clin Immunol. 2023 Jul;152(1):182-194.e7. doi: 10.1016/j.jaci.2023.01.023. Epub 2023 Feb 8. J Allergy Clin Immunol. 2023. PMID: 36758835 Free PMC article.
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Lichtenstein DA, Crispin AW, Sendamarai AK, Campagna DR, Schmitz-Abe K, Sousa CM, Kafina MD, Schmidt PJ, Niemeyer CM, Porter J, May A, Patnaik MM, Heeney MM, Kimmelman A, Bottomley SS, Paw BH, Markianos K, Fleming MD. Lichtenstein DA, et al. Blood. 2016 Oct 13;128(15):1913-1917. doi: 10.1182/blood-2016-05-719062. Epub 2016 Aug 3. Blood. 2016. PMID: 27488349 Free PMC article.
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR, Genetti CA, Aykanat A, Brownstein CA, Schmitz-Abe K, Danowski M, Quitadomo A, Madden JA, Yacoubian C, Gain R, Williams T, Meskell M, Brown A, Frith A, Rockowitz S, Sliz P, Agrawal PB, Defay T, McDonagh P, Reynders J, Lefebvre S, Beggs AH. Parikh JR, et al. HGG Adv. 2021 Jul;2(3):100035. doi: 10.1016/j.xhgg.2021.100035. Epub 2021 May 11. HGG Adv. 2021. PMID: 34514437 Free PMC article.
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Schmitz-Abe K, et al. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21. Blood. 2015. PMID: 26491070 Free PMC article.
A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Harb H, Stephen-Victor E, Crestani E, Benamar M, Massoud A, Cui Y, Charbonnier LM, Arbag S, Baris S, Cunnigham A, Leyva-Castillo JM, Geha RS, Mousavi AJ, Guennewig B, Schmitz-Abe K, Sioutas C, Phipatanakul W, Chatila TA. Harb H, et al. Nat Immunol. 2020 Nov;21(11):1359-1370. doi: 10.1038/s41590-020-0777-3. Epub 2020 Sep 14. Nat Immunol. 2020. PMID: 32929274 Free PMC article.
Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma.
Harb H, Stephen-Victor E, Crestani E, Benamar M, Massoud A, Cui Y, Charbonnier LM, Arbag S, Baris S, Cunnigham A, Leyva-Castillo JM, Geha RS, Mousavi AJ, Guennewig B, Schmitz-Abe K, Sioutas C, Phipatanakul W, Chatila TA. Harb H, et al. Nat Immunol. 2021 Jan;22(1):100. doi: 10.1038/s41590-020-00841-w. Nat Immunol. 2021. PMID: 33214720 No abstract available.
Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections.
Harb H, Benamar M, Lai PS, Contini P, Griffith JW, Crestani E, Schmitz-Abe K, Chen Q, Fong J, Marri L, Filaci G, Del Zotto G, Pishesha N, Kolifrath S, Broggi A, Ghosh S, Gelmez MY, Oktelik FB, Cetin EA, Kiykim A, Kose M, Wang Z, Cui Y, Yu XG, Li JZ, Berra L, Stephen-Victor E, Charbonnier LM, Zanoni I, Ploegh H, Deniz G, De Palma R, Chatila TA. Harb H, et al. Immunity. 2021 Jun 8;54(6):1186-1199.e7. doi: 10.1016/j.immuni.2021.04.002. Epub 2021 Apr 28. Immunity. 2021. PMID: 33915108 Free PMC article.
57 results