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Sleep and daytime behavior in individuals with Christianson Syndrome.
Sleep Med. 2022 Jan;89:55-59. doi: 10.1016/j.sleep.2021.11.007. Epub 2021 Nov 20.
Sleep Med. 2022.
PMID: 34883399
Structure and mechanism of the human NHE1-CHP1 complex.
Dong Y, Gao Y, Ilie A, Kim D, Boucher A, Li B, Zhang XC, Orlowski J, Zhao Y.
Dong Y, et al.
Nat Commun. 2021 Jun 9;12(1):3474. doi: 10.1038/s41467-021-23496-z.
Nat Commun. 2021.
PMID: 34108458
Free PMC article.
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Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.
Ilie A, Boucher A, Park J, Berghuis AM, McKinney RA, Orlowski J.
Ilie A, et al.
J Biol Chem. 2020 May 15;295(20):7075-7095. doi: 10.1074/jbc.RA120.012614. Epub 2020 Apr 10.
J Biol Chem. 2020.
PMID: 32277048
Free PMC article.
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A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer VM, Christie L, Corbett MA, Juusola J, Friend KL, Kirmse BM, Gecz J, Field M, Orlowski J.
Khayat W, et al.
Hum Mol Genet. 2019 Feb 15;28(4):598-614. doi: 10.1093/hmg/ddy371.
Hum Mol Genet. 2019.
PMID: 30335141
Free PMC article.
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