Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Mattioli, Francesca; Schaefer, Elise; Magee, Alex; Mark, Paul; Mancini, Grazia M; Dieterich, Klaus; Von Allmen, Gretchen; Alders, Marielle; Coutton, Charles; van Slegtenhorst, Marjon; Vieville, Gaëlle; Engelen, Mark; Cobben, Jan Maarten; Juusola, Jane; Pujol, Aurora; Mandel, Jean-Louis; Piton, Amélie.
Am J Hum Genet
; 100(1): 105-116, 2017 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-27939639
Thiopurine S-methyltransferase genotype-phenotype concordance: used as a quality assurance tool to help control the phenotype assay.
[A case of SBBYSS syndrome caused by KAT6B gene variant].
Complete Genome Sequence of ER2796, a DNA Methyltransferase-Deficient Strain of Escherichia coli K-12.
Treatment-related myelodysplastic syndrome in a child with acute myeloid leukemia and TPMT heterozygosity.
m<sup>6</sup>A potentiates Sxl alternative pre-mRNA splicing for robust Drosophila sex determination.
Pancreatic ß-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes.
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
m<sup>6</sup>A facilitates hippocampus-dependent learning and memory through YTHDF1.
SETD3 is an actin histidine methyltransferase that prevents primary dystocia.
Stem cell function and stress response are controlled by protein synthesis.