Ask about this productRelated genes to: NOLA3 antibody
- Gene:
- NOP10 NIH gene
- Name:
- NOP10 ribonucleoprotein
- Previous symbol:
- NOLA3
- Synonyms:
- NOP10P, MGC70651
- Chromosome:
- 15q14
- Locus Type:
- gene with protein product
- Date approved:
- 2001-02-06
- Date modifiied:
- 2019-04-23
Related products to: NOLA3 antibody
Related articles to: NOLA3 antibody
- Telomeres are repetitive DNA sequences at chromosome ends that maintain genomic stability and shorten with age. Mutations in genes such as DKC1, TERC, TERT, NOP10, TINF2 and NHP2 cause Telomere Spectrum Disorders (TSD), leading to shortened telomeres. Acquired TSDs arise from environmental or occupational exposures and commonly affect veterans, truck drivers, and industrial workers. These exposures generate reactive oxygen species associated with cancer, liver disease, pulmonary disease, and bone marrow complications. Idiopathic Pulmonary Fibrosis (IPF) is most common pulmonary manifestation, followed by hepatic fibrosis/cirrhosis, hematologic disorders (e.g., aplastic anemia, MDS), and rarely gastrointestinal findings. This case describes a Gulf War veteran with suspected acquired short telomeres and multisystem involvement (idiopathic cirrhosis, pulmonary fibrosis, cytopenias) and uniquely found to have gastrointestinal (Gastric Antral Vascular Ectasia, GAVE), a potential unsuspected manifestation of TSD. A 76-year-old male with atrial fibrillation (post-Watchman), cryptogenic cirrhosis, COPD, IPF, diabetes, and anemia presented with severe shortness of breath and hypoxia. Admitted for Sepsis and Acute Hypoxic Respiratory Failure. Treated with AVAPS, IV Zosyn, IV Lasix, steroids, bronchodilators, and diuretics. His condition improved, and he was discharged on baseline 3L O2. His Gl history included GAVE, an unsuspected bleeding complication causing chronic iron-deficiency anemia. Hematologic findings included chronic anemia, thrombocytopenia, and a hypocellular bone marrow with 12% atypical NK cells. The patient's Gulf War exposure to oil fire pollutants (benzene, toluene, PAHs, lead, cadmium, and particulate matter) likely contributed to telomere shortening and TSD-related multisystem disease. Given his shortened telomeres, testing for TERC and TERT mutations is warranted. GAVE ("watermelon stomach") is a rare cause of GI bleeding characterized by dilated gastric vessels and chronic anemia and has been linked to TSD but no current reports have documented this association. Its occurrence in this patient suggests an unrecognized gastrointestinal manifestation of TSD as the patient does not have known history of portal hypertension. This represents an potentially underreported manifestation of acquired TSD presenting with combined hepatic, pulmonary, hematologic, and gastrointestinal (GAVE) involvement. - Source: PubMed
Publication date: 2026/09/11
Uhlen AntonOudit Omar APatel DarshanShah NirajDelorenzo LenaVuchula Shreya - Telomere Biology Disorders (TBDs) are a genetically heterogeneous and often under-recognized cause of Bone Marrow Failure Syndromes (BMFS), driven by defective telomere maintenance and progressive telomere attrition. We performed an integrated genomic, telomeric and computational analysis in 118 subjects presenting clinical features of BMFS to delineate the contribution of Telomere Regulatory Genes (TRGs) variants to disease pathogenesis. Whole exome sequencing (WES) identified pathogenic (18.18%), likely pathogenic (27.27%) and rare variants of uncertain significance (54.54%) in 27 subjects (22.9%) across five TRGs: RTEL1, TERT, TINF2, NOP10, and WRAP53. Telomere Length (TL) assessment revealed significant telomere shortening in TRG variant-positive subjects compared with age-matched controls, with the most profound attrition observed in individuals harboring de novo TINF2 gene variants. RTEL1 emerged as the most frequently affected gene, with recurrent clustering of variants within its C-terminal regulatory region. A familial NOP10 variant, Asp12His, segregated with cutaneous pigmentation and hematological abnormalities consistent with the established role of NOP10 in dyskeratosis congenita, further broadening the known mutational spectrum of the gene. Structure-guided in-silico analyses predicted that both novel and recurrent variants disrupt protein stability, telomerase assembly or trafficking and shelterin complex integrity. Reduced TERT expression and a significant inverse correlation between telomere length and clinical severity further underscored the functional impact of TRG defects. Collectively, this study provides the first comprehensive characterization of TRG variants in the Indian BMFS cohort and highlights the utility of integrating genomic sequencing, telomere length measurement and computational modeling to improve diagnostic precision, variant interpretation and clinical stratification in TBDs. - Source: PubMed
Publication date: 2026/09/14
Shah AnjaliYadav AnchalGeorge MerinDhangar SomprakashRajendran ArunaShanmukhaiah ChandrakalaSharma SujataIdicula-Thomas SusanVundinti Babu Rao - Erythroblastic sarcoma is a rare and aggressive hematologic malignancy presenting as a mass-forming extramedullary proliferation of immature erythroid cells. Myeloid/lymphoid neoplasms with JAK2 rearrangement, most often PCM1::JAK2, may show eosinophilia, myelofibrosis, and expansion of immature erythroid precursors. NUTM1 rearrangements, initially recognized as defining alterations of NUT carcinoma, have subsequently been identified in selected hematologic malignancies but remain exceptionally rare in myeloid neoplasms. Here, we report an adult erythroblastic sarcoma harbouring concurrent PCM1::JAK2 and a novel NOP10::NUTM1 fusion, accompanied by partial chromosome 8p deletion and complicated by secondary hemophagocytic lymphohistiocytosis. To our knowledge, this is the first reported adult erythroblastic sarcoma with concurrent PCM1::JAK2 and NOP10::NUTM1 fusions. This case extends the molecular spectrum of erythroblastic sarcoma and underscores the value of integrated morphologic, immunophenotypic, cytogenetic, and genomic assessment in diagnostically challenging erythroid neoplasms. - Source: PubMed
Ge TongKuang DongMao XiaLiu SongyaWang JinAo QilinXiao Min - - Source: PubMed
Publication date: 2026/01/23
Franco GiovanniBruno Lucia PiaAlviano Antonio MariaVankann LuciaBrümmendorf TimGuerra FabiolaVendemini FrancescaFaverio PaolaL'Imperio VincenzoCazzaniga GiovanniLuppi FabrizioBiondi AndreaBalduzzi AdrianaBeier FabianSaettini Francesco - Diffuse large B-cell lymphoma (DLBCL) is the most common non- Hodgkin lymphoma. Despite its high prevalence, treatment options remain limited, and molecular mechanisms underlying its pathogenesis remain poorly understood. This study aimed to identify potential biomarkers for DLBCL by integrating microarray analysis, Mendelian randomization (MR), and experimental validation. - Source: PubMed
Publication date: 2026/01/08
Zhang TingHe LiZhu Yidong