ZNF651 Blocking Peptide
- Known as:
- ZNF651 Blocking Peptide
- Catalog number:
- 33r-2629
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Fitzgerald industries international
- Gene target:
- ZNF651 Blocking Peptide
Related genes to: ZNF651 Blocking Peptide
- Gene:
- ZBTB47 NIH gene
- Name:
- zinc finger and BTB domain containing 47
- Previous symbol:
- ZNF651
- Synonyms:
- KIAA1190, DKFZp434N0615
- Chromosome:
- 3p22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-01-07
- Date modifiied:
- 2016-04-25
Related products to: ZNF651 Blocking Peptide
Related articles to: ZNF651 Blocking Peptide
- Disulfidptosis is a new type of regulatory cell death (RCD), but the pathophysiological functions and mechanisms of DRGs in CESC remain to be examined. - Source: PubMed
Kang MinJiang ShaChen HuihuiXu YouhuaMo Hui - Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade sarcoma affecting with predilection the acral soft tissues of middle-aged adults. Clinically, MIFS is associated with a high rate of local recurrence but infrequent distant metastases. The diagnosis remains challenging due to their wide histologic spectrum and overlap with reactive, benign, and low-grade malignant lesions. Moreover, a significant limitation is that molecular confirmation is achieved in only a subset of cases, due to its broad range of genetic alterations which requires a multiplatform approach. Thus, a definitive diagnosis, especially at nonacral sites and in molecularly negative cases, remains uncertain. Our goal was to perform a detailed clinicopathologic and molecular reappraisal of MIFS managed at a single tertiary cancer center with dedicated orthopedic oncology expertise. Additionally, we examined potential outcomes correlating with specific genetic alterations. - Source: PubMed
Hirose TakeshiChang Hsin-YiSaoud CarlaLefkowitz Robert AAthanasian EdwardAntonescu Cristina R - Recurrent gene fusions are common in salivary gland tumors including benign tumors, such as pleomorphic adenoma (PA) and myoepithelioma (ME). In cases where chromosomal rearrangement is identified in the pleomorphic adenoma gene 1 (PLAG1) gene, different gene partners are found. Oncocytic metaplasia, characterized by oncocytes with abundant eosinophilic granular cytoplasm and hyperchromatic nuclei, is a well-known phenomenon in salivary gland neoplasms. However, the pure oncocytic variant of PA/ME showed PLAG1 gene rearrangements involving various gene partners at the molecular level, without any recurrent fusion being found. Our study includes 20 cases of PA/ME, with 11 females and 9 males. The age of patients ranged from 37 to 96 years, with a median age of 62.8 years. Most tumors originate from the parotid gland. The median size of the tumor was 26.5 mm (range: 13 to 60 mm). Among the 20 cases, 14 were a pure oncocytic variant of PA/ME, whereas 6 cases showed focal oncocytic or oncocytic-like aspects. Molecular studies on 20 cases of PA/ME were conducted. A novel recurrent ZBTB47-AS1::PLAG1 fusion was identified in 6 of 12 cases with pure oncocytic metaplasia, whereas the other cases had PLAG1 gene fusion with different gene partners. The transcriptomic analysis of the cases harboring ZBTB47-AS1::PLAG1 fusion demonstrated that these tumors have a distinct molecular profile from conventional PA/ME. This study reveals a unique subset in the oncocytic PA/ME spectrum characterized by pure oncocytic morphology with larger oncocytic cells and recurrent ZBTB47-AS1::PLAG1 fusion. It also highlights the transcriptomic distinctness of salivary gland adenomas with pure oncocytic metaplasia in the spectrum of salivary gland neoplasms. Further studies are needed to better understand the oncocytic variant of PA/ME and to determine the true nature of oncocytic cells in PA/ME. - Source: PubMed
Publication date: 2024/03/18
Alsugair ZiyadPerrot JimmyDescotes FrançoiseLopez JonathanChampagnac AnnePissaloux DanielCastain ClaireOnea MihaelaCéruse PhilippePhilouze PierreLépine CharlesLanic Marie-DelphineLaé MarickCostes-Martineau ValérieBenzerdjeb Nazim - - Source: PubMed
Publication date: 2024/02/07
- The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47. Exome sequencing (ES) was performed for five unrelated patients with neurodevelopmental disorders. All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patient and p.(Glu477Lys) (c.1429G>A) identified in the other four patients. Both variants impact conserved amino acid residues. Bioinformatic analysis of each variant is consistent with pathogenicity. We present five unrelated patients with de novo missense variants in ZBTB47 and a phenotype characterized by developmental delay with intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities. We propose that these variants in ZBTB47 are the basis of a new neurodevelopmental disorder. - Source: PubMed
Publication date: 2023/09/25
Ward Scott KWadley AlexandreaTsai Chun-Hui AnneBenke Paul JEmrick LisaFisher KristenHouck Kimberly MDai Hongzheng Guillen Sacoto Maria JCraigen WilliamGlaser KimberlyMurdock David RRohena LuisDiderich Karin E MBruggenwirth Hennie TLee BrendanBacino CarlosBurrage Lindsay CRosenfeld Jill A