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PubMed (GeneRIF) for id: 162

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MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
Ito Y, Takeichi T, Igari S, Mori T, Ono A, Suyama K, Takeuchi S, Muro Y, Ogi T, Hosoya M, Yamamoto T, Akiyama M. Ito Y, et al. J Eur Acad Dermatol Venereol. 2021 May;35(5):e345-e347. doi: 10.1111/jdv.17098. Epub 2021 Jan 6. J Eur Acad Dermatol Venereol. 2021. PMID: 33349978 No abstract available.
Novel function for AP-1B during cell migration.
Kell MJ, Ang SF, Pigati L, Halpern A, Fölsch H. Kell MJ, et al. Mol Biol Cell. 2020 Oct 15;31(22):2475-2493. doi: 10.1091/mbc.E20-04-0256. Epub 2020 Aug 20. Mol Biol Cell. 2020. PMID: 32816642 Free PMC article.
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Boyden LM, et al. Am J Hum Genet. 2019 Nov 7;105(5):1023-1029. doi: 10.1016/j.ajhg.2019.09.021. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630788 Free PMC article.
Genetic variations in humans associated with differences in the course of hepatitis C.
Saito T, Ji G, Shinzawa H, Okumoto K, Hattori E, Adachi T, Takeda T, Sugahara K, Ito JI, Watanabe H, Saito K, Togashi H, Ishii K, Matsuura T, Inageda K, Muramatsu M, Kawata S. Saito T, et al. Biochem Biophys Res Commun. 2004 Apr 30;317(2):335-41. doi: 10.1016/j.bbrc.2004.03.056. Biochem Biophys Res Commun. 2004. PMID: 15063762 Clinical Trial.