Identification of novel genetic causes of Rett syndrome-like phenotypes.
Guimarães, Portugal. In J Med Genet, Feb 2016
deletion encompassing four exons of the TCF4 gene and a mosaic UPD of chromosome 3. Variants in genes previously implicated in neurodevelopmental disorders (NDD) were identified in six patients (32%): de novo variants in EEF1A2, STXBP1 and ZNF238 were found in three patients, maternally inherited X linked variants in SLC35A2, ZFX and SHROOM4 were detected in two male patients and one homozygous variant in EIF2B2 was detected in one patient.
Muc1 enhances the beta-catenin protective pathway during ischemia-reperfusion injury.
Somalia. In Am J Physiol Renal Physiol, Feb 2016
We also found downstream induction of β-catenin pro-survival factors (activated Akt, survivin, transcription factor TCF4 and its downstream target cyclin D1) and repression of pro-apoptotic factors (p53, active Bax and cleaved caspase 3) in control mouse kidneys that were absent or aberrant in kidneys of Muc1 KO mice.
Association between Genetic Variants and Diabetes Mellitus in Iranian Populations: A Systematic Review of Observational Studies.
Tehrān, Iran. In J Diabetes Res, 2014
We found significant association between CTLA-4, IL-18, VDR, TAP2, IL-12, and CD4 genes and T1DM, HNFα and MODY, haptoglobin, paraoxonase, leptin, TCF7L2, calreticulin, ERα, PPAR-γ2, CXCL5, calpain-10, IRS-1 and 2, GSTM1, KCNJ11, eNOS, VDR, INSR, ACE, apoA-I, apo E, adiponectin, PTPN1, CETP, AT1R, resistin, MMP-3, BChE K, AT2R, SUMO4, IL-10, VEGF, MTHFR, and GSTM1 with T2DM or its complications.
Fuchs Corneal Dystrophy.
Baltimore, United States. In Prog Mol Biol Transl Sci, 2014
A trinucleotide repeat in TCF4 correlates strongly with disease status and interacts in common pathways with previously identified genes.