Ask about this productRelated genes to: ERCC6 antibody
- Gene:
- ERCC6 NIH gene
- Name:
- ERCC excision repair 6, chromatin remodeling factor
- Previous symbol:
- CKN2
- Synonyms:
- CSB, RAD26, ARMD5
- Chromosome:
- 10q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1989-06-30
- Date modifiied:
- 2019-04-23
Related products to: ERCC6 antibody
Related articles to: ERCC6 antibody
- Choosing an optimal combination of adeno-associated virus (AAV) capsid and promoter is key to achieving precise, efficient, and safe gene delivery. However, the limited packaging capacity of AAV can make incorporating large transgenes with strong promoters challenging. To address this, we screened several promoter designs derived from portions of the 5' untranslated regions (UTRs) of the human and DNA repair genes to generate a novel 126-base pair (bp) mini-promoter (CP040). We evaluated the expression capabilities of CP040 and its components and demonstrated that intravenous (i.v.) administration of AAVDJ vector harboring enhanced green fluorescent protein () driven by the CP040 promoter (AAVDJ-) in neonatal mice resulted in strong central nervous system (CNS) expression 6 weeks later. CP040 expression was compared with the chicken beta actin (CBA), human elongation factor 1 alpha (EF1α), and human synapsin 1 (hSYN) promoters following intracerebroventricular (ICV) and intrathecal (IT) AAVDJ administrations. The CP040 mini-promoter yielded comparable expression levels to CBA and hSYN promoters and higher levels than EF1α, with lower off-target expression in liver and kidneys. These initial characterizations support CP040 as a promising candidate to enhance AAV-mediated gene therapy targeting the CNS when cargo sequences cannot fit within AAV size constraints. - Source: PubMed
Publication date: 2026/01/29
Chauhan MonikaDaugherty Audrey LKhadir Fatemeh EllieDuzenli Ozgun FHoffman AlexandraWan OliviaTinklenberg Jennifer AKang Peter BAslanidi GeorgePacak Christina A - Lung cancer is rare before age 45, and its inherited genetic basis remains poorly defined. - Source: PubMed
Publication date: 2026/04/15
Selvan Myvizhi EsaiRothberg Bonnie Elyssa GouldPatel Abhijit ASang JianHorowitz AmirChristiani David CKlein Robert JGümüş Zeynep H - Ultraviolet exposure is the main environmental risk factor for non-melanoma skin cancers (NMSCs), but genetic susceptibility also contributes to variability in disease burden among individuals. - Source: PubMed
Publication date: 2026/04/11
Campana IreneMinafò Ylenia AuraScaglione Giovanni LucaGiovanardi GiuliaCosio TerenzioLanna CaterinaArtosi FabioLambiase SaraValente CarolaBartolocci ValeriaMorelli MartinaAlbanesi CristinaPalese EnzoMinieri MarilenaGiovannelli AlfredoAvitabile DanieleSalcedo Nidia MargotMastroeni SimonaMazzanti CinziaAbeni DamianoCampione ElenaFania LucaDellambra Elena - 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 - Renal neuroendocrine tumors (RenNETs) are exceptionally rare neoplasms, accounting for less than 1 % of all renal tumors. Their clinicopathologic features, molecular characteristics, and biological behavior remain inadequately understood. This study aims to provide a comprehensive clinicopathologic and molecular analysis of RenNETs to distinguish them from other renal and neuroendocrine tumors. - Source: PubMed
Publication date: 2026/02/19
Zhang KaijianChen TingtingWu XiaobingWu RongrongChen BingShi JiongXu YuemeiFan XiangshanFu Yao