Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

F Pirozzi, B Lee, N Horsley, DD Burkardt… - American Journal of …, 2021 - Wiley Online Library
Abstract Cyclin D2 (CCND2) is a critical cell cycle regulator and key member of the cyclin D2‐
CDK4 (DC) complex. De novo variants of CCND2 clustering in the distal part of the protein …

Transcription factor AP4 mediates cell fate decisions: to divide, age, or die

MMK Wong, SM Joyson, H Hermeking, SK Chiu - Cancers, 2021 - mdpi.com
Simple Summary Here, we review the literature on Activating Enhancer-Binding Protein 4
(AP4)/transcription factor AP4 (TFAP4) function and regulation and its role in cancer …

Transcription factor AP-4 promotes tumorigenic capability and activates the Wnt/β-catenin pathway in hepatocellular carcinoma

J Song, C **e, L Jiang, G Wu, J Zhu, S Zhang… - …, 2018 - pmc.ncbi.nlm.nih.gov
It has been reported that the transcription factor activating enhancer-binding protein 4
(TFAP4) is upregulated and associated with an aggressive phenotype in several cancers …

Identifying the “stripe” transcription factors and cooperative binding related to DNA methylation

X Luo, Q Zou - Communications Biology, 2024 - nature.com
DNA methylation plays a critical role in gene regulation by modulating the DNA binding of
transcription factors (TFs). This study integrates TFs' ChIP-seq profiles with WGBS profiles to …

Deletion of the transcriptional regulator TFAP4 accelerates c-MYC-driven lymphomagenesis

MA Potts, S Mizutani, AL Garnham… - Cell Death & …, 2023 - nature.com
Many lymphoid malignancies arise from deregulated c-MYC expression in cooperation with
additional genetic lesions. While many of these cooperative genetic lesions have been …

Structural basis of human PRPS2 filaments

GM Lu, HH Hu, CC Chang, J Zhong, X Zhou, CJ Guo… - Cell & Bioscience, 2023 - Springer
Background PRPP synthase (PRPS) transfers the pyrophosphate groups from ATP to ribose-
5-phosphate to produce 5-phosphate ribose-1-pyrophosphate (PRPP), a key intermediate in …

A human neural crest model reveals the developmental impact of neuroblastoma-associated chromosomal aberrations

IM Saldana-Guerrero, LF Montano-Gutierrez… - Nature …, 2024 - nature.com
Early childhood tumours arise from transformed embryonic cells, which often carry large
copy number alterations (CNA). However, it remains unclear how CNAs contribute to …

PRPS2 Enhances Resistance to Cisplatin via Facilitating Exosomes-mediated Macrophage M2 Polarization in Non-small Cell Lung Cancer

G Liu, Y Luo, P Hou - Immunological Investigations, 2022 - Taylor & Francis
Background Phosphoribosyl pyrophosphate synthetases 2 (PRPS2) is reported as an
oncogene in various cancers. However, the role of PRPS2 in cisplatin (DDP) resistance of …

Transcription factor activating protein 4 is synthetically lethal and a master regulator of MYCN-amplified neuroblastoma

S Boboila, G Lopez, J Yu, D Banerjee… - Oncogene, 2018 - nature.com
Despite the identification of MYCN amplification as an adverse prognostic marker in
neuroblastoma, MYCN inhibitors have yet to be developed. Here, by integrating evidence …

[HTML][HTML] Contribution of model organisms to investigating the far-reaching consequences of PRPP metabolism on human health and well-being

EA Ugbogu, LM Schweizer, M Schweizer - Cells, 2022 - mdpi.com
Phosphoribosyl pyrophosphate synthetase (PRS EC 2.7. 6.1) is a rate-limiting enzyme that
irreversibly catalyzes the formation of phosphoribosyl pyrophosphate (PRPP) from ribose-5 …