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FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Among authors: singh s. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.
The molecular basis of craniofacial placode development.
Singh S, Groves AK. Singh S, et al. Wiley Interdiscip Rev Dev Biol. 2016 May-Jun;5(3):363-76. doi: 10.1002/wdev.226. Epub 2016 Mar 7. Wiley Interdiscip Rev Dev Biol. 2016. PMID: 26952139 Free PMC article. Review.
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
Ghosh R, Bosticardo M, Singh S, Similuk M, Delmonte OM, Pala F, Peng C, Jodarski C, Keller MD, Chinn IK, Groves AK, Notarangelo LD, Walkiewicz MA, Chinen J, Bundy V. Ghosh R, et al. Among authors: singh s. J Allergy Clin Immunol. 2022 Dec;150(6):1556-1562. doi: 10.1016/j.jaci.2022.08.005. Epub 2022 Aug 18. J Allergy Clin Immunol. 2022. PMID: 35987349 Free PMC article.
Cellular reprogramming with ATOH1, GFI1, and POU4F3 implicate epigenetic changes and cell-cell signaling as obstacles to hair cell regeneration in mature mammals.
Iyer AA, Hosamani I, Nguyen JD, Cai T, Singh S, McGovern MM, Beyer L, Zhang H, Jen HI, Yousaf R, Birol O, Sun JJ, Ray RS, Raphael Y, Segil N, Groves AK. Iyer AA, et al. Among authors: singh s. Elife. 2022 Nov 29;11:e79712. doi: 10.7554/eLife.79712. Elife. 2022. PMID: 36445327 Free PMC article.
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