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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A. Bal E, et al. Among authors: aslanger ad. Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4. Nat Med. 2017. PMID: 28869610 Free article.
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG. Rosti RO, et al. Among authors: aslanger ad. J Med Genet. 2017 Jun;54(6):399-403. doi: 10.1136/jmedgenet-2016-104237. Epub 2017 Mar 9. J Med Genet. 2017. PMID: 28280135
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. Wang L, et al. Among authors: aslanger ad. Nat Commun. 2021 Feb 15;12(1):1192. doi: 10.1038/s41467-021-21448-1. Nat Commun. 2021. PMID: 33589599 Free PMC article. No abstract available.
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S. Furuichi T, et al. Among authors: aslanger ad. J Med Genet. 2009 Aug;46(8):562-8. doi: 10.1136/jmg.2008.065201. Epub 2009 Jun 8. J Med Genet. 2009. PMID: 19508970 Free PMC article.
27 results