Role of the multifunctional transcription factor TFII-I in DNA damage repair

AL Roy - DNA repair, 2021 - Elsevier
The multifunctional transcription factor TFII-I, encoded by the GTF2I gene, is implicated in
various biological pathways, and associated with multiple human disorders. Evidence is …

Thymic stroma and TFII-I: towards new targeted therapies

PG Manti, S Trattaro, D Castaldi, M Pezzali… - Trends in Molecular …, 2022 - cell.com
Thymic epithelial tumors (TETs) have been characterized at the molecular level through
bioptic sections and cell lines. Despite these advances, there is a need for a more thorough …

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome

JS Kippenhan, MD Gregory, T Nash, P Kohn… - Journal of …, 2023 - Springer
Background Williams syndrome (WS), a rare neurodevelopmental disorder caused by
hemizygous deletion of~ 25 genes from chromosomal band 7q11. 23, affords an exceptional …

Contribution of congenital heart disorders associated with copy number variants in mediating risk for brain developmental disorders: evidence from 20-year …

L Dowden, D Tucker, S Morgan, O Uzun… - Frontiers in …, 2021 - frontiersin.org
Rare pathogenic copy number variants (CNVs) are genetic rearrangements that have been
associated with an increased risk for congenital heart disorders (CHDs). However, the …

Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11. 23 deletion and duplication syndromes: what are the fetal features?

X Luo, H Niu, F Zhou, X Chen, Y Pei, W Liu… - BMC Pregnancy and …, 2024 - Springer
Objective Analyze the ultrasound findings, single nucleotide polymorphism array (SNP-
array) results, and pregnancy outcomes of fetuses with 7q11. 23 deletions and duplications …