MEN1 mutations mediate clinical resistance to menin inhibition

F Perner, EM Stein, DV Wenge, S Singh, J Kim… - Nature, 2023 - nature.com
Chromatin-binding proteins are critical regulators of cell state in haematopoiesis,. Acute
leukaemias driven by rearrangement of the mixed lineage leukaemia 1 gene (KMT2A r) or …

[HTML][HTML] Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes

F Lanzaro, D De Biasio, FG Cesaro… - Journal of Clinical …, 2024 - mdpi.com
Multiple endocrine neoplasia (MEN) syndromes are part of a spectrum of clinically well-
defined tumor syndromes ultimately characterized by histologically similar tumors arising in …

[HTML][HTML] Bioinformatics Study on Site-Specific Variations of Eotaxin-3, a Key Chemokine in Eosinophilic Esophagitis (EoE)

D Giordano, A d'Acierno, A Marabotti, P Iovino… - Genes, 2024 - mdpi.com
Eotaxin-3 is a key chemokine with a relevant role in eosinophilic esophagitis, a rare chronic
immune/antigen-mediated inflammatory disorder. Eotaxin-3 is a potent activator of …

Multi-omics analyses of MEN1 missense mutations identify disruption of menin–MLL and menin–JunD interactions as critical requirements for molecular …

KMA Dreijerink, E Ozyerli-Goknar, S Koidl… - Epigenetics & …, 2022 - Springer
Background Loss-of-function mutations of the multiple endocrine neoplasia type 1 (MEN1)
gene are causal to the MEN1 tumor syndrome, but they are also commonly found in …

Investigating the novel-binding site of RPA2 on Menin and predicting the effect of point mutation of Menin through protein–protein interactions

G Kaur, M Prajapat, H Singh, P Sarma, S Bhadada… - Scientific Reports, 2023 - nature.com
Protein–protein interactions (PPIs) play a critical role in all biological processes. Menin is
tumor suppressor protein, mutated in multiple endocrine neoplasia type 1 syndrome and has …

[HTML][HTML] Design of Inhibitors That Target the Menin–Mixed-Lineage Leukemia Interaction

MN Arthur, K Bebla, E Broni, C Ashley, M Velazquez… - Computation, 2024 - mdpi.com
The prognosis of mixed-lineage leukemia (MLL) has remained a significant health concern,
especially for infants. The minimal treatments available for this aggressive type of leukemia …

A Novel Pathogenic MEN1 Gene Variant Identified in a Family With Multiple Pancreatic Neuroendocrine Tumors

H Horikoshi, J Arita, K Hasegawa… - JCEM Case …, 2023 - academic.oup.com
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine tumor syndrome
caused by pathogenic variants in the MEN1 gene, and most patients with this syndrome …

A computational study of structural analysis of Class I human glucose-6-phosphate dehydrogenase (G6PD) variants: Elaborating the correlation to chronic non …

M Alakbaree, AH Abdulsalam, HH Ahmed… - … Biology and Chemistry, 2023 - Elsevier
Abstract Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common
human enzyme defect that affects more than 500 million people worldwide. Individuals …

In silico analysis of the effects of omicron spike amino acid changes on the interactions with human proteins

N D'Arminio, D Giordano, B Scafuri, C Biancaniello… - Molecules, 2022 - mdpi.com
The SARS-CoV-2 variant Omicron is characterized, among others, by more than 30 amino
acid changes occurring on the spike glycoprotein with respect to the original SARS-CoV-2 …

Molecular mechanisms of dynamics-mediated effects of pathogenic missense mutations on Menin protein function

Q Zhang, H Wang, X Chen, W Li, J Peng, M Zhang… - bioRxiv, 2024 - biorxiv.org
Understanding how disease-causing missense mutations (DCMMs) affect protein function is
fundamental. The traditional structure-function paradigm for proteins has evolved into a …