Ask about this productRelated genes to: DDX42 Blocking Peptide
- Gene:
- DDX42 NIH gene
- Name:
- DEAD-box helicase 42
- Previous symbol:
- -
- Synonyms:
- RNAHP, RHELP, SF3b125, SF3B8
- Chromosome:
- 17q23.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-13
- Date modifiied:
- 2016-10-05
Related products to: DDX42 Blocking Peptide
Related articles to: DDX42 Blocking Peptide
- Colorectal cancer (CRC) is a leading cause of cancer death, and the incidence and mortality rates among young adults are rising. Although a subset of CRC cases presents with a family history, suggesting a hereditary component, the specific genetic underpinnings remain incompletely understood, particularly in early-onset CRC (EOCRC). This study aimed to discover novel risk genes for EOCRC using exome sequencing and gene-based rare variant burden testing. Our cohort consisted of 212 European-ancestry cases (174 diagnosed with CRC and 38 with significant polyps) from the South Australian Young Onset Colorectal Polyp and Cancer Study (SAYO) and 31,699 unaffected controls from the Simons Foundation Powering Autism Research for Knowledge (SPARK) cohort. After filtering for ancestry, relatedness, variant quality, and population allele frequency, we performed gene-set and individual-gene burden tests using predicted deleterious missense and loss-of-function variants. Statistical significance was assessed using permutation-corrected binomial testing. An independent validation was conducted in the UK Biobank. Loss-of-function variants in known CRC tumor suppressor genes were significantly enriched in SAYO cases. Gene-level analyses identified as a novel EOCRC susceptibility candidate ( value = 1.0 × 10), with supporting enrichment of deleterious missense and loss-of-function variants in distal colon cancer cases from the UK Biobank. Additional genes (, , , , , and ) demonstrated borderline significance, implicating pathways related to kinetochore assembly, autophagy regulation, and immune signaling. Both predicted gain-of-function and loss-of-function variants contributed to the EOCRC risk, supporting heterogeneous mechanisms of CRC pathogenesis. This study identified novel candidate risk genes for EOCRC, underscoring the role of rare variants and expanding our understanding of the genetic architecture of CRC. Future studies should include functional validation and replication studies on other ancestries to confirm and extend these results. - Source: PubMed
Publication date: 2025/12/09
Song RuocenMikaeel Reger RHe ZhongpingHorsnell MehganUylaki WendyMeng WeiminPoplawski Nicola KWollnik BerndLi YunFeng JinghuaScott Hamish SShen YufengWang ChenYin RuiDing YousongLlor XavierChung Wendy KSmith EricPrice Timothy JYoung Joanne PFan Xiao - Pulmonary arterial hypertension (PAH) and major depressive disorder (MDD) frequently co-occur, worsening morbidity and mortality. The shared genetic and molecular substrates of this comorbidity remain unclear. This study investigated common differentially expressed genes (DEGs), convergent pathways, and candidate hub genes linking PAH and MDD. - Source: PubMed
Publication date: 2025/11/07
Yan YanHajary Sagor Mohammad IsmailChen LiangLin HuakanGao GufengLian GuiliXie Liangdi - Ameloblastoma (AM) is a well-known benign odontogenic tumor recognized for its aggressive nature, believed to originate from tooth-forming tissue or the dental follicle (DF). Phosphoproteins are crucial for cellular signaling, enabling intracellular communication and regulating various physiological processes. In cancer, phosphoproteins are fundamental to both pathogenesis and pathophysiology. However, studies on phosphoproteins in AM are still limited. This study aimed to compare phosphoprotein profile and identify the crucial phosphoproteins between AM and DF. - Source: PubMed
Publication date: 2025/08/01
Sanguansin SirimaKengkarn SudapornKlongnoi BowornTopanurak SupachaiRoytrakul SittirakChujan SuthipongKitkumthorn Nakarin - The DEAD-box RNA helicase (DDX) family is one of the canonical splicing regulators, engaged in RNA metabolism, and generally participates in forming spliceosomes. However, systematic analysis of DDX family members in hepatocellular carcinoma (HCC) has not been conducted before, and their biological functions need to be investigated further. Based on biological function enrichment analysis, radiosensitivity index (RSI), and prediction IC50 index for sorafenib, we ultimately ascertain DDX42 as a candidate gene. DDX42 was highly expressed in HCC than in para-tumour tissues and was a prognostic factor for HCC patients. Importantly, DDX42 overexpression promotes cell proliferation, radio-resistance and sorafenib resistance in HCC cells and activates the PI3K/AKT pathway. Knockdown of DDX42 moderately inhibited cell growth of HCC cells and significantly increased radio-sensitivity, enhanced the efficacy of sorafenib, and inactivated the PI3K/AKT pathway. Mechanically, DDX42 could urge the mRNA maturation of GRB2, contributing to cell proliferation and enhancement of resistance ability to radiotherapy and sorafenib for HCC cells. Subcutaneous xenograft nude mouse model showed that DDX42 significantly promoted tumour growth as compared to the control group and lifted the expression of GRB2, KI-67 and PCNA in vivo. In conclusion, our findings facilitate the acknowledgment of tumour initiation and mechanisms of treatment resistance in HCC, and targeting the axis of DDX42 and GRB2 may be promising strategies for synergy with radiotherapy or sorafenib for HCC patients. - Source: PubMed
Liu ZijianYuan JingshengLiu FeiZeng QiwenWu ZhenruYang Jian - The identification of novel molecular biomarkers may assist in the characterization of indeterminate thyroid nodules, which pose significant diagnostic challenges. Here, we aimed to explore the potential of proteomic analyses to support biomarker discovery in challenging thyroid lesions. - Source: PubMed
Publication date: 2025/08/11
Capitoli GiuliaAlviano Antonio MariaMonza NicolePagani LisaPiga IsabellaBernasconi Davide PaoloGreco AngelaLeni DavideMaggioni AliceGatti Andrea-ValerMaffini FaustoFusco NicolaGarancini MattiaMagni FulvioGalimberti StefaniaPagni FabioL'Imperio VincenzoDenti Vanna