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endocrine-cerebro-osteodysplasia syndrome相关文献:
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH.
Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016.
PMID:27069622
Activation of sonic hedgehog signaling by a Smoothened agonist restores congenital defects in mouse models of endocrine-cerebro-osteodysplasia syndrome.
Shin JO, Song J, Choi HS, Lee J, Lee K, Ko HW, Bok J.
EBioMedicine. 2019 Nov;49:305-317. doi: 10.1016/j.ebiom.2019.10.016. Epub 2019 Oct 26.
PMID:31662288
Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling.
Moon H, Song J, Shin JO, Lee H, Kim HK, Eggenschwiller JT, Bok J, Ko HW.
Proc Natl Acad Sci U S A. 2014 Jun 10;111(23):8541-6. doi: 10.1073/pnas.1323161111. Epub 2014 May 22.
PMID:24853502
Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice.
Tsutsumi R, Chaya T, Furukawa T.
Gene Expr Patterns. 2018 Sep;29:18-23. doi: 10.1016/j.gep.2018.04.005. Epub 2018 Apr 7.
PMID:29635032
A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.
Ding M, Jin L, Xie L, Park SH, Tong Y, Wu D, Chhabra AB, Fu Z, Li X.
Calcif Tissue Int. 2018 Mar;102(3):348-357. doi: 10.1007/s00223-017-0355-3. Epub 2017 Nov 2.
PMID:29098359
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA.
Am J Hum Genet. 2009 Feb;84(2):134-47. doi: 10.1016/j.ajhg.2008.12.017. Epub 2009 Jan 29.
PMID:19185282
An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome.
Tong Y, Park SH, Wu D, Xu W, Guillot SJ, Jin L, Li X, Wang Y, Lin CS, Fu Z.
FEBS Lett. 2017 May;591(9):1247-1257. doi: 10.1002/1873-3468.12644. Epub 2017 Apr 21.
PMID:28380258
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