DEFB132 Antibody
- Known as:
- DEFB132 Antibody
- Catalog number:
- 32147
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Signalway
- Gene target:
- DEFB132 Antibody
Related genes to: DEFB132 Antibody
- Gene:
- DEFB132 NIH gene
- Name:
- defensin beta 132
- Previous symbol:
- -
- Synonyms:
- RP5-1103G7.6, DEFB32
- Chromosome:
- 20p13
- Locus Type:
- gene with protein product
- Date approved:
- 2008-04-24
- Date modifiied:
- 2015-11-18
Related products to: DEFB132 Antibody
Related articles to: DEFB132 Antibody
- The burden of triple-negative breast cancer (TNBC) may be shaped by genetic factors, particularly inherited and somatic mutation profiles. However, data on this topic remain limited, especially for the African continent, where a higher TNBC incidence is observed. In the age of precision medicine, cataloguing TNBC diversity in African patients becomes imperative. We performed whole exome sequencing, including untranslated regions, on 30 samples from Angola and Cape Verde, which allowed to ascertain on potential regulatory mutations in TNBC for the first time. A high somatic burden was observed for the African cohort, with 86% of variants being so far unreported. Recurring to predictive functional algorithms, 17% of the somatic single nucleotide variants were predicted to be deleterious at the protein level, and 20% overlapped with candidate cis-regulatory elements controlling gene expression. Several of these somatic functionally-impactful mutations and copy number variation (mainly in 1q, 8q, 6 and 10p) occur in known BC- and all cancer-driver genes, enriched for several cancer mechanisms, including response to radiation and related DNA repair mechanisms. TP53 is the top of these known BC-driver genes, but our results identified possible novel TNBC driver genes that may play a main role in the African context, as TTN, CEACAM7, DEFB132, COPZ2 and GAS1. These findings emphasize the need to expand cancer omics screenings across the African continent, the region of the globe with highest genomic diversity, accelerating the discovery of new somatic mutations and cancer-related pathways. - Source: PubMed
Publication date: 2025/03/25
Pinto Ricardo JFerreira DylanSalamanca PauloMiguel FernandoBorges PamelaBarbosa CarlaCosta VitorLopes CarlosSantos Lúcio LaraPereira Luisa - To identify genetic alterations associated with tongue cancer recurrence in young adults, whole exome sequencing of the primary tumor, recurrence, and whole blood samples from young patients with tongue cancer was performed. A frameshift mutation in the TP53 gene was detected in the primary tumor and recurrence tumor tissue. A mutation in the EPHB6 gene was detected in the recurrence and was absent in the primary tumor. In addition, the primary tumor and recurrence tongue cancer tissue harbored amplification of the 20p13 region containing C20orf96, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, and ZCCHC3 genes. Thus, genetic alterations have been identified that are associated with tongue cancer recurrence in young adults. - Source: PubMed
Publication date: 2024/08/11
Kolegova E SSchegoleva A AVorobev R SFedorova I KKulbakin D EPolyakov A PMordovsky A VYakovleva L PVyalov A STsiklauri V TKropotov M ASuchkova N GSukortseva N SReshetov I VChoinzonov E LDenisov E V - Breast cancer (BC) is the most common cancer and the most frequent cause of cancer death among women worldwide. The aim of the present study was to identify the critical genes for the diagnosis and prognosis of BC. Two mRNA expression data (GSE29431 and GSE42568) were acquired from the GEO database. The determination of differently expressed genes (DEGs) between BC specimens and nontumor specimens was completed via the LIMMA package of R. GO annotation and KEGG pathway enrichment analyses were applied to explore the function of DEGs. Kaplan-Meier methods were used to determine the prognostic value of DEGs in BC using TCGA datasets. The diagnostic value of the survival-related DGEs were confirmed using ROC assays in two GEO datasets. RT-PCR was used to examine the expression of the critical genes in BC cells and normal breast cells. CCK-8 experiments were applied to explore the function of the critical genes in BC cells. In this study, we identified 31 DEGs between BC specimens and nontumor specimens. KEGG analysis revealed 31 DEGs were involved in PPAR signal path, AMPK signal path, glycerolipid metabolism, adipocytokine signaling pathway, phenylalanine metabolism, tyrosine metabolic process, and glycine, serine, and threonine metabolic process. Four DEGs including CRYAB, DEFB132, MAOA, and RBP4 were observed to be associated with clinical outcome of BC patients. Their diagnostic values were also confirmed in both GSE29431 and GSE42568 datasets. In addition, we analyzed TCGA datasets and confirmed that the results were consistent with GEO datasets. Finally, the results of RT-PCR confirmed that the expression of CRYAB and RBP4 was distinctly downregulated in BC cells. CCK-8 analysis revealed that overexpression of CRYAB and RBP4 distinctly suppressed the proliferation of BC cells. Overall, our findings suggested CRYAB and RBP4 as critical genes for the diagnosis and prognosis of BC patients. They may be used as novel biomarkers for BC patients. - Source: PubMed
Publication date: 2022/05/31
Yu FengPan Xian-JunLuo Jie - In primates, infection is an important force driving gene evolution, and this is reflected in the importance of infectious disease in human morbidity today. The beta-defensins are key components of the innate immune system, with antimicrobial and cell signalling roles, but also reproductive functions. Here we examine evolution of beta-defensins in catarrhine primates and variation within different human populations. - Source: PubMed
Publication date: 2008/04/16
Hollox Edward JArmour John A L