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Summary Expression Phenotypes Gene Literature (6) GO Terms (0) Nucleotides (233) Proteins (49) Interactants (125) Wiki
XB--855724

Papers associated with kmt2d (and Disease Ontology)

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A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB, Willsey HR, Xu Y, Xu Y, Mei Y, Dea J, Wang S, Curtis C, Sempou E, Khokha MK, Chi NC, Willsey AJ, Fisch KM, Ideker T., Cell Syst. August 13, 2021;             


Using Xenopus to analyze neurocristopathies like Kabuki syndrome., Schwenty-Lara J, Pauli S, Borchers A., Genesis. January 1, 2021; 59 (1-2): e23404.      


The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration., Schwenty-Lara J, Nehl D, Borchers A., Hum Mol Genet. January 1, 2020; 29 (2): 305-319.                


Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis., Schwenty-Lara J, Nürnberger A, Borchers A., Dev Dyn. January 1, 2019; 248 (6): 465-476.                  

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