Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Baltimore, United States. In Eur J Hum Genet, Aug 2015
Applying WES to patients with ID or global developmental delay at different centers, we identified three individuals with distinct de novo variants in HIVEP2 (human immunodeficiency virus type I enhancer binding protein), which belongs to a family of zinc-finger-containing transcriptional proteins involved in growth and development.
The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis.
Boston, United States. In Blood, 2014
Validated gene losses due to CNAs involved PRDM2 (93%), BTG1 (87%), HIVEP2 (77%), MKLN1 (77%), PLEKHG1 (70%), LYN (60%), ARID1B (50%), and FOXP1 (37%).
Lactobacillus acidophilus L-92 Cells Activate Expression of Immunomodulatory Genes in THP-1 Cells.
Sagamihara, Japan. In Biosci Microbiota Food Health, 2013
In the early phase of L-92 treatment, various transcription regulator genes, such as, NFkB1, NFkB2, JUN, HIVEP2 and RELB, and genes encoding chemokines and cytokines, such as CCL4, CXCL11, CCL3 and TNF, were upregulated.
Special AT-rich sequence-binding protein 2 and its related genes play key roles in the differentiation of MC3T3-E1 osteoblast like cells.
Seoul, South Korea. In Biochem Biophys Res Commun, 2012
In addition, using the GeneSpringGX 7.3 program to compare the identified genes expressed in SATB2-overexpresed cells with untreated control, we found several unique genes closely associated with osteoblast differentiation, including SOX2, MBP2, WNT11 and MEN1 (up-regulated genes), and ILK, FGF23, FGFR2, and SNAI1 (down-regulated genes).