Ask about this productRelated genes to: CSE1L Blocking Peptide
- Gene:
- CSE1L NIH gene
- Name:
- chromosome segregation 1 like
- Previous symbol:
- -
- Synonyms:
- CAS, XPO2, CSE1
- Chromosome:
- 20q13.13
- Locus Type:
- gene with protein product
- Date approved:
- 1998-05-05
- Date modifiied:
- 2016-10-31
Related products to: CSE1L Blocking Peptide
Related articles to: CSE1L Blocking Peptide
- ACTH-producing pancreatic neuroendocrine neoplasms (PanNENs) are a rare aggressive subset of panNETs associated with clinical symptoms of ectopic Cushing syndrome. Until recently, their molecular pathogenesis remained poorly understood. Following our prior study highlighting high frequency of gene fusions (mostly EWSR1::BEND2) in them, we herein document our experience with 5 new tumors occurring in 4 women (one of unspecified sex) aged 36 to 79 (median, 45). All presented with clinical and biochemical signs of ectopic Cushing syndrome. Histologically, the tumors corresponded to NET grade 2 (n = 3) and grade 3 (n = 2). At last follow-up, three patients were alive with metastatic disease at 36, 48 and 72 months from initial diagnosis, one died of disease at 50 months and one was disease-free at 15 months. Targeted RNA sequencing revealed an EWSR1::BEND2 fusion in two cases and a possible CSE1L::TAF15 fusion in one. Two tumors were negative for fusions. This small series and review of the recent literature further confirm the significant association between the EWSR1::BEND2 fusions and ectopic ACTH-production in PanNETs with an overall frequency of ectopic Cushing among EWSR1::BEND2 fusion tumors of 70%. Given their highly aggressive course, recognition of this molecular subtype of panNETs is mandatory. Emerging BEND2 IHC represents a promising screening tool for recognizing these tumors. - Source: PubMed
Publication date: 2026/06/05
Agaimy AbbasAdsay VolkanStoehr RobertPavel Marianne ELena Marco Schiavo - An increasing body of evidence suggests an association between metabolic syndrome and gastric cancer. However, the shared genetic signatures and underlying molecular mechanisms between them remain to be elucidated. - Source: PubMed
Publication date: 2026/04/20
Kong WeihaoWang JiawenZhang KangjieWang XingyuZhang Jianlin - Poorly differentiated endometrial carcinoma in Black African women is under-characterized at the transcriptomic level, although it is known for aggressive subtypes. We conducted the first RNA-seq analysis of formalin-fixed, paraffin-embedded (FFPE) tumors from Black South African women to explore population-specific gene expression, alternative splicing, and novel isoforms. - Source: PubMed
Publication date: 2026/03/24
Molefi ThuloAlaouna MohammedChipiti TalentSebitloane HannahDlamini Zodwa - Psychosis is a clinically heterogenous disorder associated with significant difficulties with social and occupational function (psychosocial disability; PD). While environmental and cognitive factors are identified predictors of PD, the genetic contribution remains unclear. Here, we investigated the hypothesis that objective social participation (SP) and occupational engagement are genetically influenced. We performed mixed-linear-model genome-wide association studies of these phenotypes in the UK Biobank (N∼404,500) and a series of post-hoc analyses including Mendelian randomization (MR) to interpret findings. SP was defined as the frequency of social visits and leisure activities based on response to questionnaires. Occupational engagement was represented by two variables: occupational function (OF) and the established Not in Education, Employment, and Training (NEET) measure, both derived from employment status responses. We identified 17 independent loci for SP, with a SNP-based heritability of 4.1%. A list of contributory genes included TNRC6B, STAU1, CDH7, GBE1, DDX27, and several known schizophrenia risk genes including CSE1L, ZNF536 and TCF4. The regulation of synaptic signalling was implicated in the biology of SP by gene-set analysis. SNP-based heritabilities for OF and NEET were 1.8% and 1.3% respectively and DRD2 was associated with both phenotypes by gene-based analysis. Reduced SP and occupational engagement demonstrated genetic correlations with an increased risk for neuropsychiatric disorders, socioeconomic deprivation, lower cognitive ability, loneliness, neuroticism and chronic pain. MR indicated that attention-deficit hyperactivity disorder and schizophrenia were likely causal for reduced occupational engagement. PD has a genetic component with shared genetic links and relationships with neuropsychiatric disorders and related traits. - Source: PubMed
Publication date: 2026/01/18
Doherty EvieLaighneach AodánCasburn MiaQuilligan FergusDonohoe GaryCannon Dara MMorris Derek W - Human congenital anomalies account for twice the mortality of childhood cancer. Despite advancements in genome sequencing and transgenic mouse models that have aided in understanding their pathogenesis, significant gaps remain. Through a forward genetics approach, we previously discovered the hypo-morphic anteater allele of Cse1l which displayed variable craniofacial phenotypes. To circumvent the variability seen in this model, we generated a conditional allele of Cse1l and genetically ablated it in the dorsal midline giving rise to portions of the nervous system and the cranial neural crest cells using the Wnt1-Cre2 driver. Our analysis revealed that Wnt1-Cre2; Cse1l embryos exhibited severe malformations in the forebrain, midbrain, and hindbrain, accompanied by a dramatic hypoplasia of the frontonasal, maxillary, and mandibular processes, and the second pharyngeal arch. Wnt1-Cre2; Cse1l embryos were embryonic lethal by E11.5 likely due to proliferative defects in the ventricular myocardium. Wnt1-Cre2; Cse1l embryos exhibited consistently increased apoptosis at E9.5 in the affected tissues along with an increase in p53 expression. These data together show a previously unknown critical function of CSE1L in neural crest cell survival during development. - Source: PubMed
Publication date: 2025/12/09
Iyyanar Paul P RStottmann Rolf W