Publications by authors named "Puller A"
Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be indicators of an underlying syndrome. Among the best-known entities of superficial fibromas is Gardner fibroma, a plaque-like benign tumor, which is associated with APC germline mutations and occurs in patients with familial adenomatosis polyposis (Gardner syndrome).
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- Transgenesis is a key genetic technique, and the use of Tol2-based systems with Gateway vectors has improved zebrafish transgenesis, making it easier to use.
- The authors developed new tools for testing gene regulatory elements and expanded the color options for transgenic research by introducing vectors with various fluorophores.
- They also created specific transgenesis markers for the zebrafish pineal gland that work before and after hatching, which can be applied to other species like cavefish, enhancing the versatility of their transgenic applications.
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- Aberrant levels of the transcriptional modulator ZNF423 are linked to the development of B-cell leukemia, specifically investigating its role in various acute lymphoblastic leukemia (ALL) subtypes using data from 1354 samples.
- Analysis of a pro-B ALL model using CRISPR-Cas9 showed that removing ZNF423 led to decreased cell viability and improved survival in mice, highlighting its importance in leukemia progression.
- The study uncovered a complex relationship where ZNF423 binds to EBF1 target sites, repressing gene activity and disrupting EBF1's functions, which contributes to altered transcriptional regulation and influences B-cell development and leukemogenesis.
Article Synopsis
- The study highlights the role of the Microphthalmia-associated transcription factor (MITF) in regulating DNA repair and transcription in melanocytic cells, which are sensitive to UV radiation.
- MITF activates the transcription factor GTF2H1, enhancing nucleotide excision repair and ensuring timely resumption of transcription, crucial for the survival of melanocytes and melanoma cells.
- Additionally, MITF influences c-MYC to regulate general transcription and CDK7, suggesting a novel mechanism that could be targeted for therapeutic interventions in melanoma.
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- Hemoglobin (Hb) is a protein that transports oxygen in the blood and consists of α- and β-globin subunits.
- The Hb Presbyterian mutation (HBB: c.327 C>G) replaces asparagine with lysine in the β-globin gene, resulting in lower oxygen affinity.
- This study reports the identification of this mutation in a 6-year-old girl and her father from Nicaragua and Cuba, marking the first such case documented in Latin America.
Article Synopsis
- - The "cancerized field" theory explains that in tissues with cancer-prone cells, only certain clones have the ability to start tumors, often involving oncogenic mutations like BRAF(V600E) found in benign nevi that usually do not progress to melanoma.
- - Research using transgenic zebrafish shows that a single abnormal melanocyte can switch back to an embryonic neural crest progenitor state, which is critical for the onset of melanoma in a specific genetic context (BRAF(V600E) mutation combined with p53 deficiency).
- - The transcription factor sox10 is implicated in this process, as its overexpression speeds up melanoma development by activating genes related to the neural crest state, signaling that the re
Article Synopsis
- Krüppel-like zinc finger proteins, especially ZNF423, play essential roles in mammalian development and are linked to various diseases, particularly cancer.
- ZNF423 disrupts B-cell development by interfering with EBF1, contributing to conditions like acute lymphoblastic leukemia, while promoting differentiation in neuroblastoma, leading to better patient outcomes.
- The diverse effects of ZNF423 are influenced by the cellular environment and its structural complexity, featuring 30 zinc fingers that create different functional domains.
Article Synopsis
- Linear DNA-based and Tol2-mediated transgenesis methods in zebrafish can be unreliable due to random integration and variable expression of transgenes.
- The phiC31 integrase facilitates targeted integration of transgenes into specific genomic loci, improving stability and predictability.
- This study successfully implemented phiC31-mediated site-directed transgenesis in zebrafish, resulting in stable germline transmission and potential for tissue-specific applications.