Ask about this productRelated genes to: POLD1 antibody
- Gene:
- POLD1 NIH gene
- Name:
- DNA polymerase delta 1, catalytic subunit
- Previous symbol:
- POLD
- Synonyms:
- CDC2
- Chromosome:
- 19q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1992-02-06
- Date modifiied:
- 2019-04-23
Related products to: POLD1 antibody
Related articles to: POLD1 antibody
- Glioma is the most common malignant tumor of the central nervous system, with high malignancy and poor prognosis, necessitating the development of novel targeted therapies. DNA polymerase delta catalytic subunit 1 (POLD1) is implicated in multiple cancers, but its role in glioma remains unclear. Plant-derived extracellular vesicles (PDEVs) have emerged as biocompatible, targetable nanocarriers with promising applications in cancer therapy. - Source: PubMed
Publication date: 2026/07/26
Jin ZhiyongJiang ShanYuan LiujieMa SichengZhang FeifanZhu MengyaoLi GangYu Rutong - Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by pathogenic variants in the gene and characterized by progressive lipodystrophy and severe metabolic complications. We report an eight-year-old Saudi male presenting with atypical, insulin-resistant diabetes, acanthosis nigricans, and preserved C-peptide levels, raising suspicion for a syndromic form of diabetes. Genetic testing revealed a heterozygous variant of uncertain significance (VUS) in . Notably, the patient lacked classical features of MDPL, including overt lipodystrophy, mandibular hypoplasia, and hearing loss, posing a diagnostic challenge. Although the patient's phenotype showed partial overlap with reported -related disorders, the available evidence was insufficient to establish a definitive molecular diagnosis. Early recognition of atypical presentations of severe insulin resistance is crucial for appropriate evaluation, surveillance, and genetic counseling. Further functional studies and long-term follow-up are required to clarify the pathogenicity of the identified variant and its clinical implications. - Source: PubMed
Publication date: 2026/06/21
Alzelaye Somaya KAlkudaysi Fuad MAlghanmi AliAlhasani Turki - Hepatocellular carcinoma (HCC) patients with bone metastasis-induced paraplegia have an extremely poor prognosis. The potential for neurological recovery following immunotherapy and subsequent rehabilitation in this population remains unclear. - Source: PubMed
Publication date: 2026/06/01
Pang XionghaoZhao XinyiLin JiajianWang YansuXiao LiangLi MeixiangDong LinXie YaoguangJiang LingzhiYang CaipingTian Geng - Germline testing is underutilized and varies by cancer diagnosis. We hypothesized that patient and clinician involvement in cascade testing of relatives varies by the cancer susceptibility (breast gastrointestinal [GI]) of the affected gene. - Source: PubMed
Publication date: 2026/06/03
Kurian Allison WAbrahamse PaulFurgal AllisonVeenstra Christine MCourser Rebecca RHofer Timothy PHodan RachelCaswell-Jin Jennifer LGomez Scarlett LWard Kevin CHamilton Ann SLiu LihuaAn Lawrence CKatz Steven J - Genetic variants in the DNA polymerase enzymes POLE and POLD1 can affect protein function by altering stability, catalysis, DNA binding, and interactions with other biomolecules. Understanding the structural basis of these variants is important for a comprehensive interpretation of variant impact. In this study, we used MAVISp, a modular structure-based framework, and molecular dynamics simulations to analyze over 60 000 missense variants of POLE and POLD1. By integrating results from changes in folding and binding free energies, local alterations in the proximity of the active or phosphorylation sites, we provided a detailed structural interpretation of variants reported across various databases, including ClinVar, COSMIC, and cBioPortal. Moreover, we predicted the functional consequences of variants not found yet in disease-related databases, thereby creating a comprehensive catalog for future studies. Of note, our approach enabled us to classify 364 Variants of Uncertain Significance (VUS) as PP3 evidence and 323 as BP4 evidence, in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Additionally, we identified a group of variants that could alter the native orientation of the residues within the catalytic site of the exonuclease domain, such as POLE variants P297S and P436R. Finally, we identified a group of variants predicted to affect DNA-binding affinity and rationalized their effects in terms of different energetic contributions and structural features. Collectively, our results not only advance our understanding of protein variant effects in POLE and POLD1 at the structural level but also support future studies aimed at variant classification, variant prioritization for experimental studies, and functional interpretation across diverse biological contexts. - Source: PubMed
Publication date: 2026/05/27
Arnaudi MatteoKrzesińska KarolinaBeltrame LudovicaBesora Pablo Sánchez-IzquierdoTiberti MatteoNilbert MefRohlin AnnaPapaleo Elena