Ask about this productRelated genes to: MPRIP antibody
- Gene:
- MPRIP NIH gene
- Name:
- myosin phosphatase Rho interacting protein
- Previous symbol:
- -
- Synonyms:
- RHOIP3, M-RIP, p116Rip
- Chromosome:
- 17p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2008-06-02
- Date modifiied:
- 2014-11-19
Related products to: MPRIP antibody
Related articles to: MPRIP antibody
- Myeloid/lymphoid neoplasms with eosinophilia (MLN-eo) associated with rearrangements represent a rare but clinically significant category of hematologic malignancies, characterized by clonal eosinophilia and exceptional sensitivity to tyrosine kinase inhibitors. Among these, the :: fusion is exceptionally uncommon, with only three patients previously reported. Here, we report the first United States patient with :: fusion in a 34-year-old man presenting with leukocytosis, marked eosinophilia, anemia, thrombocytopenia, mucocutaneous lesions, hepatosplenomegaly, chronic gastrointestinal symptoms, and tree-in-bud pulmonary nodularity. Bone marrow evaluation revealed a markedly hypercellular marrow with increased eosinophils, grade 1 reticulin fibrosis, and dysmegakaryopoiesis. Fluorescence in situ hybridization (FISH) demonstrated a rearrangement in 76% of cells, and chromosome analysis revealed a balanced translocation t(5;17)(q32;p11.2). Next-generation sequencing RNA-based myeloid fusion panel analysis identified an :: fusion formed by an in-frame junction of exon 20 and exon 12. The patient was initiated on imatinib therapy and achieved rapid remission. To contextualize this patient, we compared the clinical and molecular features of all previously published patients with :: fusion, noting shared findings of marked eosinophilia and excellent imatinib sensitivity, but notable heterogeneity in symptom burden, degree of marrow fibrosis, and associated immune-related manifestations. Additionally, we provide an overview of 45 reported fusion partner genes, summarizing their cytogenetic characteristics, and associated diseases. This case report expands the clinical spectrum of :: positive MLN-eo and underscores the essential role of cytogenetic and molecular testing in the diagnostic evaluation of eosinophilia, given the significant therapeutic implications of identifying fusions. - Source: PubMed
Publication date: 2026/04/27
Gao MinBachiashvili KimoJamy OmerHarada ShukoMackinnon Alexander CraigRavindran AishwaryaChen YunjiaCarroll Andrew JMikhail Fady M - Sepsis is a life-threatening organ dysfunction caused by a dysregulated host response to infection. It remains a significant medical challenge due to its high mortality rates and requires a deeper understanding of its underlying mechanisms. This study aims to elucidate the differential expression of necroptosis-related genes in sepsis and their impact on immune characteristics. - Source: PubMed
Publication date: 2025/08/11
Wang Shouyi - For patients with advanced non-small cell lung cancer (NSCLC), genetic testing is crucial to identify alterations in targetable driver genes. ROS1-tyrosine kinase inhibitors have shown efficacy against NSCLC with common fusion genes, but the impact of rare fusion partners on therapeutic outcomes is not well understood. Here, we describe a 75-year-old female with advanced lung adenocarcinoma who was treated with crizotinib after the identification of the extremely rare fusion. Despite stepwise dose reductions due to adverse effects, the patient exhibited a significant tumor response to crizotinib. The sustained response, even at reduced doses, highlights the potential for targeted therapies in managing NSCLC with fusion. This case also underscores the importance of comprehensive genomic profiling using hybrid capture-based next-generation sequencing to identify rare driver gene alterations that may not be detected by conventional target sequencing-based methods. - Source: PubMed
Publication date: 2025/06/25
Kishikawa YasuyukiOtsubo KoheiShibahara DaisukeShiraishi YoshimasaYoneshima YasutoIwama EijiOkamoto Isamu - The genetic underpinnings of elite sprint and power performance remain largely elusive. This study aimed to identify genetic variants associated with this complex trait as well as to understand their functional implications in elite sprint and power performance. We conducted a multi-phase genome-wide association study (GWAS) in world-class sprint and power athletes of West African and East Asian ancestry and their geographically matched controls. We carried out genotype imputation, replications for the top GWAS signal rs10196189 in two European cohorts, and gene-based and tissue-specific functional network analyses. For the first time, we uncovered the G-allele of rs10196189 in the Polypeptide N-Acetylgalactosaminyltransferase 13 (GALNT13) being significantly associated with elite sprint and power performance (P = 2.13E-09 across the three ancestral groups). Moreover, we found that GALNT13 expression level was positively associated with the relative area occupied by fast-twitch muscle fibers in the vastus lateralis muscle. In addition, significant and borderline associations were observed for BOP1, HSF1, STXBP2, GRM7, MPRIP, ZFYVE28, CERS4, and ADAMTS18 in cross-ancestry or ancestry-specific contexts, predominantly expressed in the nervous and hematopoietic systems. From the elite athlete cohorts, we further identified thirty-six previously uncharacterized genes linked to host defence, leukocyte migration, and cellular responses to interferon-gamma, and four genes - UQCRFS1, PTPN6, RALY and ZMYM4 - associated with aging, neurological conditions, and blood disorders. Taken together, these results provide new biological insights into the genetic basis of elite sprint and power performance and, importantly, offer valuable clues to the molecular mechanisms underlying elite athletic performance, health and disease. - Source: PubMed
Publication date: 2025/02/04
Wang GuanFuku NoriyukiMiyamoto-Mikami EriTanaka MasashiMiyachi MotohikoMurakami HarukaMitchell Braxton DMorrison ErrolAhmetov Ildus IGenerozov Edward VFilipenko Maxim LGilep Andrei AGineviciene ValentinaMoran Colin NVenckunas TomasCieszczyk PawelDerave WimPapadimitriou IoannisGarton Fleur CPadmanabhan SandoshPitsiladis Yannis P - Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) represent rare hematological malignancies driven by pathological fusion genes involving tyrosine kinase genes. Among these, rearrangements of the gene, particularly the rearrangement, are frequently observed as pathogenic mutations. Conversely, instances of the fusion gene are rarely documented. In this case report, we present a 32-year-old previously healthy Thai male who presented to the hospital with constitutional symptoms and marked splenomegaly. His complete blood count revealed mild anemia, marked leukocytosis with hypereosinophilia, and mild thrombocytopenia. A bone marrow study showed hypercellular marrow with granulocytic hyperplasia extensively involved with eosinophils, without morphological evidence of blasts. Conventional cytogenetics identified a t (5; 17) (q33; p13). Further targeted RNA analysis using next-generation sequencing (NGS) detected a fusion gene involving . The patient was diagnosed with myeloid/lymphoid neoplasms with eosinophilia and rearrangement in the chronic-phase disease and was initiated on oral imatinib at a daily dose of 100 mg. One month after initiating the treatment, the patient achieved a hematological response consistent with complete response (CR) criteria. Imatinib therapy has been well-tolerated without reported adverse events, and a 1-year molecular assessment confirmed the achievement of complete molecular response (CMR). - Source: PubMed
Publication date: 2025/06/27
Ukkahad TaksinThamgrang Tanapun