Human USP34 cDNA Clone
- Known as:
- Human USP34 complementary Desoxyribonucleic acid Clone
- Catalog number:
- DC12735
- Product Quantity:
- 10 ug
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- Human USP34 cDNA Clone
Related genes to: Human USP34 cDNA Clone
- Gene:
- USP34 NIH gene
- Name:
- ubiquitin specific peptidase 34
- Previous symbol:
- -
- Synonyms:
- KIAA0570, KIAA0729
- Chromosome:
- 2p15
- Locus Type:
- gene with protein product
- Date approved:
- 2003-09-04
- Date modifiied:
- 2016-10-05
Related products to: Human USP34 cDNA Clone
Related articles to: Human USP34 cDNA Clone
- The 2p15p16.1 microdeletion syndrome is a rare neurodevelopmental disorder caused by heterozygous deletions of variable size involving multiple dosage-sensitive genes. Within the narrowed critical interval, USP34 has emerged as a particularly strong candidate for the core phenotype, supported by reports of smaller deletions involving only USP34 and XPO1, and by the fact that USP34 encodes a deubiquitinating enzyme that stabilizes Axin and thereby regulates canonical Wnt/β-catenin signaling, a pathway critical for neurodevelopment, craniofacial morphogenesis, and limb patterning. We report six individuals with heterozygous loss-of-function variants in USP34, including five with confirmed de novo variants, associated with global developmental delay, craniofacial dysmorphism, marked speech impairment, variable autism spectrum disorder, and distal limb anomalies. The phenotype associated with isolated loss of USP34 overlaps substantially with that reported in 2p15p16.1 microdeletion syndrome, while suggesting that some features seen in larger deletions may reflect the contribution of additional genes within the interval. These findings support haploinsufficiency of USP34 as sufficient to cause a distinct neurodevelopmental disorder, establish USP34 as a major contributor to the neurodevelopmental and dysmorphic phenotype associated with the 2p15p16.1 locus, and refine gene-specific contributions within this microdeletion syndrome. - Source: PubMed
Publication date: 2026/06/18
Wigoda HelenaKhan AmjadMendelsohn Bryce AMiyake NorikoOkamoto NobuhikoMatsumoto NaomichiKnijnenburg Patricia J Cvan Hagen Johanna Mvan de Kamp JiddekeWaisfisz QuintenWebb Bryn D - : Gastric cancer remains a leading cause of cancer-related mortality worldwide and develops through complex interactions between environmental factors, microbial dysbiosis, and host molecular pathways. Although infection is a well-established risk factor, emerging evidence suggests that broader alterations in the gastric microbiome may also contribute to carcinogenesis. However, the associations between gastric cancer-associated microbial taxa and host gene expression profiles remain insufficiently characterized. This study aimed to identify host gene signatures associated with gastric cancer-related microbial taxa through a descriptive analysis integrating microbiome-derived taxa with transcriptome data. : Microbial taxa associated with gastric cancer were systematically retrieved from the Disbiome database. Taxon set enrichment analysis (TSEA) was performed using the MicrobiomeAnalyst platform to identify host genes associated with gastric cancer-associated taxa. Importantly, TSEA relies on healthy reference data from the Human Microbiome Project and does not establish gastric cancer-specific interactions or causal relationships. Gene expression levels were subsequently evaluated using The Cancer Genome Atlas (TCGA) PanCancer stomach adenocarcinoma (STAD) dataset by comparing tumor and matched normal gastric tissues. Gene interaction network and transcription factor (TF) enrichment analyses were conducted to explore predicted regulatory relationships. : Among 64 microbial taxa associated with gastric cancer, 43 were reported as elevated. After removing overlapping taxa across studies, 37 elevated and 21 reduced taxa were retained for analysis. TSEA identified 11 host genes associated with gastric cancer-related microbial taxa. Transcriptomic analysis demonstrated significant downregulation of DPP6 and DLG2, while KDM4D, USP34, and VDR were significantly upregulated in gastric cancer tissues compared with normal controls. Network and TF enrichment analyses revealed predicted co-expression and co-localization patterns among these genes, suggesting their potential involvement in immune-related processes, epigenetic regulation, and cellular organization. : This descriptive study identifies distinct host gene expression signatures associated with gastric cancer-associated microbial dysbiosis. This study is purely associative and hypothesis-generating; no causal or mechanistic inferences are made. TSEA used healthy reference data and therefore does not reflect gastric cancer-specific host-microbe interactions. The findings provide a basis for future hypothesis-driven research but require validation in independent cohorts. - Source: PubMed
Publication date: 2026/04/22
Albuz OzgurPirim DilekAkcay SevincTan Tugba GurkokEkici SedaAkbulut Sami - Triple-negative breast cancer (TNBC) represents a particularly aggressive form of breast tumors. Mitochondrial dysfunction represses the proliferation of TNBC cells. Ubiquitin-specific proteases 34 (USP34) has been predicted to be abnormally overexpressed in TNBC. This research examined the role of USP34 in the mitochondrial function modulation of TNBC. Herein, cell proliferation was evaluated by the 5-ethynyl-2'-deoxyuridine assay. Mitochondrial membrane potential was detected employing the JC-1 assay. Mitochondrial superoxide was measured utilizing MitoSOX Red assay. Mito‑Tracker Red CMXRos staining was selected to monitor mitochondrial network structure. The relationship among USP34, eukaryotic translation initiation factor 3 m (eIF3m), and mitochondrial carrier homolog 2 (MTCH2) was validated by co-immunoprecipitation, GST-pull down, RNA immunoprecipitation and RNA-pull down analysis. We found that USP34 silencing inhibited cell proliferation by inducing mitochondrial dysfunction in TNBC cells. USP34 maintained the stability of the eIF3m protein through deubiquitination. Overexpression of eIF3m countered the mitochondrial dysfunction induced by USP34 silencing. Furthermore, eIF3m upregulated the MTCH2 level by directly binding to its 5'UTR region. MTCH2 overexpression reversed the damaging effect of eIF3m silencing on mitochondrial function. Collectively, USP34 maintained the stability of eIF3m protein through deubiquitination; the upregulated eIF3m bound to the 5'UTR of MTCH2 mRNA to promote MTCH2 expression, thereby maintaining mitochondrial function and promoting the malignant progression of TNBC. - Source: PubMed
Publication date: 2026/04/23
Qian Peng-FeiZeng YiZhong Wang-Jing - Identifying patients most likely to benefit from immune checkpoint inhibitors (ICIs) remains a significant challenge in advanced melanoma. We evaluated the association between tumor somatic mutations and clinical outcomes, focusing on relapse-free survival (RFS) and overall survival (OS) in locoregionally advanced melanoma patients treated with neoadjuvant ipilimumab. Tumor specimens and matched peripheral blood samples from 22 patients underwent whole-exome sequencing (WES) to identify non-synonymous somatic mutations. Tumor mutational burden (TMB) was quantified, and specific mutations were analyzed for associations with survival outcomes. The analysis revealed a mutational landscape dominated by single-nucleotide missense mutations with a median TMB of 11.4 mutations/MB. and mutations were detected in 73% of patients and exhibited mutual exclusivity and concurrence patterns ( < 0.05). Positional clustering identified and as key contributors to melanoma (FDR -value < 0.05). Log-rank analysis indicated that mutations in , , , , , , and were associated with shorter survival outcomes (RFS or OS). The associations remained significant in both univariate and multivariable Cox regression models adjusted for TMB. These genes can be broadly grouped into functional categories relevant to tumor progression and immune modulation. In applying multiple testing correction, none maintained statistical significance, indicating that these findings should be interpreted as exploratory and require validation in independent cohorts. This study identified tumor genomic alterations associated with clinical outcomes in melanoma patients treated with neoadjuvant ipilimumab, suggesting their potential role in anti-tumor immunity. These findings warrant further investigation in larger cohorts and across other ICIs in melanoma and other malignancies. - Source: PubMed
Publication date: 2026/03/19
Khaksar Mohammad AliEljilany IslamYassine IbrahimYu XiaoqingTeer Jamie KConejo-Garcia Jose RLyons MaureenLaFramboise WilliamTarhini Ahmad A - Recent advances in genomic technologies have greatly enhanced our understanding of genotype-phenotype relationships and improved the diagnosis of genetic diseases. However, the dissection of complex structural variants (SVs) remains challenging due to the limitations of current methods in resolving their breakpoints and interpreting phenotypes involving multiple disrupted genes. In this study, we demonstrate how an integrative approach-combining molecular cytogenetic, genomic, and transcriptomic methods-enables the detection and structural and functional characterization of complex SVs affecting the MBD5, USP34, and XPO1 genes. Our findings underscore the utility of the Exo-C, a modified chromosome conformation capture technique in resolving complex rearrangements. We also report, for the first time, a composite neurodevelopmental phenotype resulting from the combined effects of MBD5-associated intellectual disability and 2p15p16.1 microdeletion syndromes. - Source: PubMed
Gridina MariaLagunov TimofeyBelokopytova PolinaTorgunakov NikitaNurislamov ArtemYurchenko Darya AMarkova Zhanna GMarkova Tatiana VStepanchuk YanaKoksharova GalinaOrlov PavelSubbotovskaia AnnaRyzhkova OxanaShilova Nadezhda VFishman Veniamin