ERCC3 antibody - N-terminal region (ARP37963_P050)
- Known as:
- ERCC3 (anti-) - N-terminal region (ARP37963_P050)
- Catalog number:
- arp37963_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- ERCC3 antibody - N-terminal region (ARP37963_P050)
Related genes to: ERCC3 antibody - N-terminal region (ARP37963_P050)
- Gene:
- ERCC3 NIH gene
- Name:
- ERCC excision repair 3, TFIIH core complex helicase subunit
- Previous symbol:
- -
- Synonyms:
- XPB, BTF2, RAD25, TFIIH, GTF2H
- Chromosome:
- 2q14.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-04-23
Related products to: ERCC3 antibody - N-terminal region (ARP37963_P050)
Related articles to: ERCC3 antibody - N-terminal region (ARP37963_P050)
- Chronic critical illness (CCI) following acute brain injury involves persistent immune dysfunction, yet its genetic determinants remain unclear. We investigated whether the rate of T-cell receptor excision circle (TREC) depletion-a proposed marker of adaptive homeostatic resilience-is associated with the burden of rare damaging genetic variants. Whole-exome sequencing (WES) was performed on a cohort of 84 patients (64 with traumatic brain injury, 20 with stroke). In a longitudinal sub-cohort ( = 27), patients were stratified into quartiles (Q1-Q4) based on the slope of their TREC trajectories. "Qualifying variants" (QVs) were defined using strict rarity (gnomAD allele frequency ≤ 0.001) and pathogenicity criteria. Gene-level burden (collapsing) analysis and permutation-based statistical testing (10,000 iterations) were employed to evaluate genetic enrichment in the extreme quartiles. While baseline TREC levels were strictly age dependent ( < 0.0001), the rate of change (TREC slope) was age independent. Rapid TREC decline (Q1) correlated with significantly higher final SOFA scores ( = 0.001) and neutrophil-to-lymphocyte ratios ( = 0.020). Rare variant burden analysis revealed that Q1 patients were significantly more likely to harbor QVs in immune-related genes compared to the Q4 recovery group (odds ratio = 8.25; permutation = 0.016). Patients with rapid decline were enriched for QVs in putative core "housekeeping" pathways essential for T-cell maintenance and DNA repair (e.g., , ), whereas variants in recovering patients were restricted to peripheral effector or structural pathways. Our findings suggest, as a conceptual framework, that an individual's ability to maintain T-cell homeostasis during critical illness is influenced by their underlying genetic buffering capacity. We propose a hypothetical "two-hit" framework where physiological stress unmasks pre-existing fragilities in core homeostatic pathways-potentially reflecting a state of functional haploinsufficiency under extreme proliferative demand-leading to accelerated immune exhaustion. These results position the TREC slope as a dynamic, age-independent biomarker of genomic resilience in the ICU. All findings are exploratory and hypothesis generating. - Source: PubMed
Publication date: 2026/05/23
Gracheva Alesya SKashatnikova Darya AKhadzhieva Maryam BZakharchenko Vladislav EKrylova Tatyana NKuzovlev Artem NSalnikova Lyubov E - Hereditary cancers represent 5%-10% of all cancers, typically characterized by familial aggregation, early onset, and/or multiple primary tumors. Isolated cases with extreme early-onset or multiple unrelated cancers are rare and frequently underdiagnosed. This study aimed to improve genetic diagnostic yield in unresolved patients with strong clinical suspicion of hereditary cancer. Inclusion criteria were (1) ≥4 primary tumors in different organs (or ≥3 if two are rare), (2) adult-type cancers at ≤25 years, or (3) profuse gastrointestinal adenomatous polyposis before age 50 years or profuse polyposis of unknown type before age 30 years. - Source: PubMed
Publication date: 2026/04/16
Martins NelsonTerradas MarionaGarcia-Pelaez JoséSommer Anna KDemidov GermanMatalonga LeslieRamos-Muntada MireiaTe Paske Iris B A WSpier IsabelMensenkamp ArjenSchuurs-Hoeijmakers JannekeGullo IreneSão José CelinaPedro Ana MariaGouveia Silva RaquelSousa Ana BertaAmoroso Canão PedroFernandes SusanaGarrido LuziaDupont JulietteMaia SofiaSousa GabrielaIrmejs ArvidsBarili ValeriaBlatnik AnaRofes PaulaBrunet JoanCapellá GabrielLaurie StevenLázaro ConxiHoogerbrugge Nicolinede Voer Richarda MAretz StefanOliveira CarlaValle Laura - Unclassified round cell sarcomas (URCS) are a rare sarcoma subtype. Systemic treatment options for advanced URCS are limited, primarily consisting of radiotherapy and chemotherapy, while the efficacy and prerequisites for immunotherapy in URCS remain unclear. A better understanding of factors influencing the response to immunotherapy in URCS may facilitate the development of combination treatment strategies to prolong patient survival. This study reports a 60-year-old male patient with gallbladder URCS who was administered a combination of chemotherapy, bevacizumab, and pembrolizumab, followed by radiotherapy, achieving a progression-free survival of 11 months. This result supports the potential application of immunotherapy in advanced URCS. The patient exhibited vascular endothelial growth factor receptor amplification, mutations in CHEK1, ERCC3, and TP53, deletion of CD274 (gene of PD-L1), and microsatellite stability. These findings suggest that immunotherapy may be beneficial to URCS patients with low PD-L1 expression and microsatellite stability, when accompanied by immunotherapy-associated genetic alterations. - Source: PubMed
Publication date: 2026/04/08
Wang DandanLi TingWang XuanyiWang YingXu GuixuanXiao XueHu LanlinXu Chuan - Xeroderma pigmentosum group B (XPB/ERCC3) and group D (XPD/ERCC2) helicases are integral components of the transcription factor IIH (TFIIH) complex, coordinating DNA unwinding during transcription initiation and nucleotide excision repair (NER). XPB functions as an ATP-driven translocase that generates torsional strain to promote promoter melting and DNA opening at lesion sites, whereas XPD acts as a 5' to 3' helicase responsible for lesion verification and extension of the repair bubble. Structural and biochemical studies have clarified how TFIIH subunits regulate these helicases-p52 and p8 modulate XPB's translocation activity, while p44, p62, and MAT1 control XPD's helicase function through conformational and compositional transitions within the complex. Beyond their canonical roles, XPB and XPD participate in diverse cellular pathways, including cell-cycle regulation and oxidative stress response, highlighting their involvement in maintaining genome integrity beyond repair and transcription. Mutations in either helicase lead to xeroderma pigmentosum (XP), trichothiodystrophy (TTD), or combined XP/Cockayne syndrome (XP/CS) phenotypes, emphasizing the essential role of TFIIH integrity for human health. Recent biochemical and pharmacological advances have further revealed the therapeutic relevance of these helicases-XPB as a target of small-molecule inhibitors such as triptolide, Minnelide, and spironolactone, and XPD as a potential modulator of cancer sensitivity to DNA-damaging treatments. Collectively, XPB and XPD exemplify the structural and functional versatility of TFIIH helicases across repair, transcription, and genome maintenance. - Source: PubMed
Publication date: 2026/03/13
Bravo MarcoFan Li - Cockayne syndrome is an ultra-rare (1:2.5 million) hereditary disease from the group of progeroid syndromes caused by pathogenic and probable-pathogenic variants in DNA repair genes (ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2) and XPG (ERCC5)) and characterized by abnormal photosensitivity, congenital cataract, microcephaly, sensorineural hearing loss, nervous system pathology and other multisystem changes. In this manuscript, for the first time in the Russian Federation, we present the results of a clinical and genetic study and follow-up of a Russian cohort of patients. - Source: PubMed
Publication date: 2026/03/07
Kungurtseva A LPopovich A VTikhonovich Yu VIvannikova T EKovalskaia V AVasiliev P AVitebskaya A V