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Mast cells, cortistatin, and its receptor, MRGPRX2, are linked to the pathogenesis of chronic prurigo.
Kolkhir P, Pyatilova P, Ashry T, Jiao Q, Abad-Perez AT, Altrichter S, Vera Ayala CE, Church MK, He J, Lohse K, Metz M, Scheffel J, Türk M, Frischbutter S, Maurer M. Kolkhir P, et al. Among authors: abad perez at. J Allergy Clin Immunol. 2022 Jun;149(6):1998-2009.e5. doi: 10.1016/j.jaci.2022.02.021. Epub 2022 Mar 10. J Allergy Clin Immunol. 2022. PMID: 35283140
Topical inflammasome inhibition with disulfiram prevents irritant contact dermatitis.
Bonnekoh H, Vera C, Abad-Perez A, Radetzki S, Neuenschwander M, Specker E, Mahnke NA, Frischbutter S, Latz E, Nazaré M, Kries JV, Maurer M, Scheffel J, Krause K. Bonnekoh H, et al. Clin Transl Allergy. 2021 Jul 22;11(5):e12045. doi: 10.1002/clt2.12045. eCollection 2021 Jul. Clin Transl Allergy. 2021. PMID: 34322217 Free PMC article.
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Suter AA, Santos-Simarro F, Toerring PM, Abad Perez A, Ramos-Mejia R, Heath KE, Huckstadt V, Parrón-Pajares M, Mensah MA, Hülsemann W, Holtgrewe M, Mundlos S, Kornak U, Bartsch O, Ehmke N. Suter AA, et al. Am J Med Genet A. 2020 Sep;182(9):2068-2076. doi: 10.1002/ajmg.a.61735. Epub 2020 Jun 27. Am J Med Genet A. 2020. PMID: 32592542 Free article.
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Gottschalk A, Sczakiel HL, Hülsemann W, Schwartzmann S, Abad-Perez AT, Grünhagen J, Ott CE, Spielmann M, Horn D, Mundlos S, Jamsheer A, Mensah MA. Gottschalk A, et al. Among authors: abad perez at. Genet Med. 2023 Nov;25(11):100928. doi: 10.1016/j.gim.2023.100928. Epub 2023 Jul 7. Genet Med. 2023. PMID: 37427568 Review.
The importance of routine genetic testing in pediatric epilepsy surgery.
Becker LL, Makridis KL, Abad-Perez AT, Thomale UW, Tietze A, Elger CE, Horn D, Kaindl AM. Becker LL, et al. Among authors: abad perez at. Epilepsia Open. 2024 Apr;9(2):800-807. doi: 10.1002/epi4.12916. Epub 2024 Feb 17. Epilepsia Open. 2024. PMID: 38366963 Free PMC article.