Publications by authors named "Luis Arriola-Martinez"
Article Synopsis
- The genomics era has led to the identification of the ERG gene as a new autosomal dominant predisposition factor for bone marrow failure (BMF) and hematological malignancies (HM), crucial for blood cell development and function.
- Research found several rare ERG variants associated with thrombocytopenia and various forms of HM, showing onset typically before age 40.
- Functional studies indicated that many ERG variants disrupt its role as a transcription factor, leading to ineffective blood cell production, with implications for clinical diagnosis and treatment strategies for affected patients and families.
Article Synopsis
- * A study analyzed a large international group of patients with specific genetic variants (RUNX1, GATA2, DDX41) to identify unique genetic patterns linked to the development of these malignancies, particularly noting different tendencies for early-onset clonal hematopoiesis (CH).
- * Findings suggest that further monitoring and clinical trials should focus on specific genetic variants to improve preemptive treatments and surveillance for patients, especially those with RUNX1 and DDX41 mutations.
Despite a growing catalog of secreted factors critical for lymphatic network assembly, little is known about the mechanisms that modulate the expression level of these molecular cues in blood vascular endothelial cells (BECs). Here, we show that a BEC-specific transcription factor, SOX7, plays a crucial role in a non-cell-autonomous manner by modulating the transcription of angiocrine signals to pattern lymphatic vessels. While SOX7 is not expressed in lymphatic endothelial cells (LECs), the conditional loss of SOX7 function in mouse embryos causes a dysmorphic dermal lymphatic phenotype.
View Article and Find Full Text PDFTranscriptional enhancer elements are responsible for orchestrating the temporal and spatial control over gene expression that is crucial for programming cell identity during development. Here we describe a novel enhancer element that is important for regulating the expression of Prox1 in lymphatic endothelial cells. This evolutionarily conserved enhancer is bound by key lymphatic transcriptional regulators including GATA2, FOXC2, NFATC1 and PROX1.
View Article and Find Full Text PDFDespite their abundance, the molecular functions of long non-coding RNAs in mammalian nervous systems remain poorly understood. Here we show that the long non-coding RNA, NEAT1, directly modulates neuronal excitability and is associated with pathological seizure states. Specifically, NEAT1 is dynamically regulated by neuronal activity in vitro and in vivo, binds epilepsy-associated potassium channel-interacting proteins including KCNAB2 and KCNIP1, and induces a neuronal hyper-potentiation phenotype in iPSC-derived human cortical neurons following antisense oligonucleotide knockdown.
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