ESAM (gene)
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An Error has occurred retrieving Wikidata item for infobox Endothelial cell-selective adhesion molecule is a protein that in humans is encoded by the ESAM gene.[1][2][3] A mutation in the ESAM gene is known to cause fetal intracranial hemorrhaging.[4]
References
- ↑ Hirata Ki, Ishida T, Penta K, Rezaee M, Yang E, Wohlgemuth J, Quertermous T (May 2001). "Cloning of an immunoglobulin family adhesion molecule selectively expressed by endothelial cells". J Biol Chem. 276 (19): 16223–16231. doi:10.1074/jbc.M100630200. PMID 11279107.
- ↑ Sim DL, Yeo WM, Chow VT (Mar 2002). "The novel human HUEL (C4orf1) protein shares homology with the DNA-binding domain of the XPA DNA repair protein and displays nuclear translocation in a cell cycle-dependent manner". Int J Biochem Cell Biol. 34 (5): 487–504. doi:10.1016/S1357-2725(01)00156-X. PMID 11906820.
- ↑ "Entrez Gene: ESAM endothelial cell adhesion molecule".
- ↑ "Entry - #620371 - NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY; NEDIHSS - OMIM". omim.org. Retrieved 2024-11-19.
Further reading
- Nasdala I, Wolburg-Buchholz K, Wolburg H, et al. (2002). "A transmembrane tight junction protein selectively expressed on endothelial cells and platelets". J. Biol. Chem. 277 (18): 16294–16303. doi:10.1074/jbc.M111999200. PMID 11847224.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–2270. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
- Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Sci. 13 (10): 2819–2824. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–126. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
