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Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R. Chi YI, et al. Among authors: urrutia r. Orphanet J Rare Dis. 2021 Feb 5;16(1):66. doi: 10.1186/s13023-021-01692-w. Orphanet J Rare Dis. 2021. PMID: 33546721 Free PMC article.
The Heterochromatin Protein 1 family.
Lomberk G, Wallrath L, Urrutia R. Lomberk G, et al. Among authors: urrutia r. Genome Biol. 2006;7(7):228. doi: 10.1186/gb-2006-7-7-228. Genome Biol. 2006. PMID: 17224041 Free PMC article. Review.
Primers on molecular pathways--notch.
Lomberk G, Urrutia R. Lomberk G, et al. Among authors: urrutia r. Pancreatology. 2008;8(2):103-4. doi: 10.1159/000123603. Epub 2008 Apr 1. Pancreatology. 2008. PMID: 18382095
Primers on molecular pathways--caspase pathway.
Lomberk G, Urrutia R. Lomberk G, et al. Among authors: urrutia r. Pancreatology. 2009;9(1-2):6-8. doi: 10.1159/000178860. Epub 2008 Dec 12. Pancreatology. 2009. PMID: 19077449
365 results