Ask about this productRelated genes to: CCDC28A antibody
- Gene:
- CCDC28A NIH gene
- Name:
- coiled-coil domain containing 28A
- Previous symbol:
- C6orf80
- Synonyms:
- CCRL1AP, DKFZp586D0623
- Chromosome:
- 6q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-05-19
- Date modifiied:
- 2016-10-05
Related products to: CCDC28A antibody
Related articles to: CCDC28A antibody
- Given the high morbidity and mortality of colorectal cancer (CRC), as well as its challenging treatment, the present study was conducted to identify reliable prognostic signatures for predicting clinical outcomes. - Source: PubMed
Publication date: 2026/01/02
Wang QiangChen ZhongshengLi LiangheZhang JiandongLi QingZhan Wei - Extramedullary blast crisis (EMBC) is rare, clinically heterogeneous, and often misdiagnosed because routine histology may be inconclusive. We describe a CML-EMBC case in which targeted RNA sequencing uncovered concurrent NPM1::CCDC28A and BCR::ABL1 fusions, refining the diagnosis and suggesting a novel molecular subset.Clinical, laboratory, imaging, histopathology, and outcome data of a 26-year-old man were reviewed retrospectively. Targeted RNA-seq was performed on formalin-fixed, paraffin-embedded sacrococcygeal tissue. PubMed and Google Scholar were searched with "NPM1," "CCDC28A," "fusion," "CML," "myeloid sarcoma," and "extramedullary blast crisis" to contextualise NPM1 rearrangements. The patient achieved deep molecular remission of chronic-phase CML (BCR::ABL1 0.0058% International Scale) while receiving flumatinib, yet developed a painful sacrococcygeal mass. Initial biopsy suggested an undifferentiated small round-cell sarcoma. RNA-seq revealed dual NPM1::CCDC28A and BCR::ABL1 fusions, prompting reclassification as granulocytic sarcoma-type CML-EMBC. Intermediate-dose cytarabine with continued tyrosine-kinase inhibition produced marked metabolic regression on PET-CT, and the patient has been bridged to allogeneic hematopoietic stem-cell transplantation. Literature review uncovered only sporadic reports of NPM1::CCDC28A; experimental data indicate that the fusion up-regulates HOX clusters similarly to mutant NPM1, facilitating leukemogenesis and extramedullary dissemination. Solitary tumours in CML patients who are in marrow remission should prompt suspicion for EMBC. When morphology is ambiguous, integrating molecular pathology, particularly targeted RNA-seq, can confirm myeloid lineage and uncover disease-relevant alterations. Co-occurrence of BCR::ABL1 and NPM1::CCDC28A may delineate a distinct EMBC subset with prognostic and therapeutic relevance. Prospective studies are required to clarify the fusion's pathogenic role and biomarker potential. - Source: PubMed
Publication date: 2025/10/22
Zhu LingYi KeZhou JieyiHu GuanqianHe JieLan HongyanChen MiaomiaoSun LinZheng BoLi Rong - Endometriosis is caused by the migration of endometrial cells to locations outside the uterine lining. Despite the increasing prevalence of endometriosis, there has been limited research on genetic effects, and its molecular mechanisms remain unclear. This study aimed to investigate the mechanisms underlying the development of endometriosis and to identify new genetic targets for endometriosis by integrating data from gene chips, single-cell mapping, and genome-wide association study databases. Using the Gene Expression Omnibus database, we downloaded data on normal endometrium, eutopic endometrium, and ectopic lesion tissues to explore the differentially expressed genes (DEGs) between normal and eutopic endometrium, and between eutopic and ectopic endometrium. Assessment of the relationships between DEGs and endometriosis involved differential expression, expression quantitative trait loci (eQTL), and Mendelian randomization (MR) analyses. Two single-cell atlas datasets were then analyzed to explore the mechanisms underlying disease development and progression. Intersection of MR results with DEGs between normal and eutopic endometrium highlighted 28 candidate biomarker genes (17 upregulated and 11 downregulated). Similarly, we identified two additional candidate biomarker genes by intersecting the DEGs between eutopic and ectopic endometrium with MR results. Among these 30 candidates, further filtering using single-cell datasets revealed that the histamine N-methyltransferase (HNMT), coiled-coil domain containing 28 A (CCDC28A), fatty acid desaturase 1 (FADS1) and mahogunin ring finger 1 (MGRN1) genes were differentially expressed between the normal and eutopic groups, consistent with transcriptomic and MR results. Our findings suggested that eutopic endometrium exhibits epithelial-mesenchymal transition (EMT). Cell communication analysis focused on ciliated epithelial cells expressing CDH1 and KRT23 revealed that, in the eutopic endometrium, ciliated epithelial cells are strongly correlated and interact with natural killer cells, T cells, and B cells. We identified four novel biomarker genes and found evidence for EMT in the eutopic endometrium. The mechanism of endometriosis progression may be closely related to EMT and changes in the immune microenvironment triggered by damage to ciliated epithelial cells. - Source: PubMed
Publication date: 2025/03/26
Dou ShengWei YiLin ZongyunWu HuiYang FenglianCen XuechangLu WenjingQin HaimeiWang RongWang Junli - Male infertility presents a substantial challenge in reproductive medicine, often attributed to impaired sperm motility. The present study investigates the role of CCDC28A, a protein expressed specifically in male germ cells, whose paralog CCDC28B has been implicated in ciliogenesis. We identify unique expression patterns for CCDC28A and CCDC28B within the mouse testes, where CCDC28A is expressed in germ cells, whereas CCDC28B is expressed in supporting somatic cells. Through knockout mouse models and histological analyses, we reveal that CCDC28A deficiency results in diminished sperm motility and structural aberrations in sperm tails, notably affecting the head-tail coupling apparatus (HTCA), thereby causing male infertility. Fine structural analyses by transmission electron microscopy reveal disruptions at the capitulum-basal plate junction of the HTCA in the CCDC28A mutants. This results in the bending of the head within the neck region, often accompanied by thickening of the tail midpiece. Our discovery demonstrates that CCDC28A plays an essential role in male fertility and sperm tail morphogenesis through the formation of HTCA. - Source: PubMed
Publication date: 2024/11/05
Stojanovic NenaHernández Rosario OrtizRamírez Nayeli TorresMartínez Olga Margarita EcheverríaHernández Abrahan HernándezShibuya Hiroki - Nucleophosmin (NPM1) is a nucleolar protein and one of the most frequently mutated genes in acute myeloid leukemia (AML). In addition to the commonly detected frameshift mutations in exon12 (NPM1c), previous studies have identified NPM1 gene rearrangements leading to the expression of NPM1-fusion proteins in pediatric AML. However, whether the NPM1-fusions are indeed oncogenic and how the NPM1-fusions cause AML have been largely unknown. In this study, we investigated the subcellular localization and leukemogenic potential of two rare NPM1-fusion proteins, NPM1::MLF1 and NPM1::CCDC28A. NPM1::MLF1 is present in both the nucleus and cytoplasm and occasionally induces AML in the mouse transplantation assay. NPM1::CCDC28A is more localized to the cytoplasm, immortalizes mouse bone marrow cells in vitro and efficiently induces AML in vivo. Mechanistically, both NPM1-fusions bind to the HOX gene cluster and, like NPM1c, cause aberrant upregulation of HOX genes in cooperation with XPO1. The XPO1 inhibitor selinexor suppressed HOX activation and colony formation driven by the NPM1-fusions. NPM1::CCDC28A cells were also sensitive to menin inhibition. Thus, our study provides experimental evidence that both NPM1::MLF1 and NPM1::CCDC28A are oncogenes with functions similar to NPM1c. Inhibition of XPO1 and menin may be a promising strategy for the NPM1-rearranged AML. - Source: PubMed
Publication date: 2024/10/23
Shimosato YukoYamamoto KeitaJia YuhanZhang WenyuShiba NorioHayashi YasuhideIto ShuichiKitamura ToshioGoyama Susumu