scholarly journals Molecular genetic features of pediatric gliomas

2019 ◽  
Vol 18 (4) ◽  
pp. 109-117 ◽  
Author(s):  
M. A. Zaytseva ◽  
L. A. Yasko ◽  
L. I. Papusha ◽  
A. E. Druy
Keyword(s):  
Pediatric Patients ◽  
Molecular Genetic ◽  
Predictive Biomarkers ◽  
The Novel ◽  
Therapeutic Approaches ◽  
Nucleotide Substitutions ◽  
Genetic Classification ◽  
Genetic Features ◽  
Genetic Mechanisms ◽  
Group Stratification

Gliomas are the most common central nervous system tumors demonstrating an extremely broad range of clinical behavior. Over last few decades the understanding of molecular genetic mechanisms of tumor initiation and progression increased significantly. Furthermore, the identification of prognostic and predictive biomarkers aids the development of personalized and risk-adapted therapeutic approaches. In this review, we summarize the molecular findings in pediatric gliomas, both low and high grade (LGG and HGG), focusing on recurrent somatic mutations. There are nucleotide substitutions in BRAF, H3F3A, Hist1H3B/С, IDH1/2 genes, BRAF and NTRK1/2/3 fusions, and CDKN2A/B copy-number aberrations, known to be clinically relevant in the prognosis defining or predicting the efficacy of targeted therapy. We also describe how these findings could pave the way towards the novel genetic classification and risk-group stratification for pediatric patients with glial tumors.

Patterning and cell differentiation in Hydra: novel genes and the limits to conservation

2002 ◽  
Vol 80 (10) ◽  
pp. 1670-1677 ◽  
Author(s):  
Thomas C.G Bosch ◽  
Konstantin Khalturin
Keyword(s):  
Cell Differentiation ◽  
Sequence Data ◽  
Sequence Similarity ◽  
Signal Molecules ◽  
The Novel ◽  
Novel Genes ◽  
Axial Patterning ◽  
Evolutionarily Conserved ◽  
Genetic Features ◽  
Genetic Mechanisms

In the last few years more than 100 genes have been identified from Hydra, and well over 80 have been characterized. Since most genes are homologs of genes found in bilaterians, the genetic mechanisms for axial patterning and cell differentiation are evolutionarily conserved. This constitutes something of a paradox. If key developmental-control genes are the same in Hydra and all other organisms, how does one account for the marked differences in development and morphology of the different animal groups? How are taxon-specific features encoded? To examine whether in Hydra, in addition to conserved mechanisms, there are genetic features that control uniquely taxon-specific (Hydra/Hydrozoa/Cnidaria) aspects, we used an experimental strategy that does not require sequence data from related taxa. By means of this unbiased ("knowledge-independent") approach we have identified genes from Hydra encoding signal molecules and effector genes with no sequence similarity to genes in other organisms. When tested functionally, the novel genes were found to be essential for axial patterning and differentiation of Hydra-specific characteristics. Experimental analysis of the cis-regulatory apparatus of these novel genes reveals target sites for novel trans-acting factors. The use of unbiased screening approaches for several other organisms also reveals a large number of novel and taxon-specific genes of as yet unknown function. Thus, comparative data alone may not be sufficient for gaining a full understanding of the development of taxon-specific characteristics.

New Nucleotide Polymorphisms in the BTC1 gene of Sugar Beet

2020 ◽  
Vol 36 (6) ◽  
pp. 49-54
Author(s):  
A.A. Nalbandyan ◽  
T.P. Fedulova ◽  
I.V. Cherepukhina ◽  
T.I. Kryukova ◽  
N.R. Mikheeva ◽  
...  
Keyword(s):  
Sugar Beet ◽  
Flowering Time ◽  
Molecular Genetic ◽  
Bioinformatic Analysis ◽  
Early Flowering ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Substitutions ◽  
Time Control ◽  
Flowering Time Control ◽  
Exon 10

The flowering time control gene of various sugar beet plants has been studied. The BTC1 gene is a regulator for the suppressor (flowering time 1) and inducer (flowering time 2) genes of this physiological process. The F9/R9 primer pair was used for polymerase chain reaction; these primers are specific to the BTC1 gene region containing exon 9, as well as intron and exon 10. For the first time, nucleotide substitutions in exon 10 of BTC1 gene were identified in bolting sensitive samples (HF1 and BF1), which led to a change in the amino acid composition of the coded polypeptide chain. Based on the results of bioinformatic analysis, it can be assumed that certain nucleotide polymorphisms in the BTC1 gene may determine with a high probability the predisposition of sugar beet genotypes to early flowering. The use of the Geneious Prime tool for the analysis of the BTC1 gene sequences may allow the culling of genotypes prone to early flowering at early stages of selection. sugar beet, flowering gene, BTC1, genetic polymorphism, PCR, molecular genetic markers, selection

scholarly journals Tolvaptan in Pediatric Autosomal Dominant Polycystic Kidney Disease: From Here to Where?

2021 ◽  
pp. 1-7
Author(s):  
Fei Liu ◽  
Chunyue Feng ◽  
Huijun Shen ◽  
Huaidong Fu ◽  
Jianhua Mao
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Pediatric Patients ◽  
Autosomal Dominant ◽  
Life Assessment ◽  
Therapeutic Approaches ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Ongoing Phase

<b><i>Background:</i></b> Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder, accounting for approximately 5% of all ESRD cases worldwide. As a vasopressin receptor 2 antagonist, tolvaptan is the FDA-approved therapeutic agent for ADPKD, which is only made available to a limited number of adult patients; however, its efficacy in pediatric patients has not been reported widely. <b><i>Summary:</i></b> Tolvaptan was shown to delay ADPKD progression in the Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes (TEMPO) 3:4 study, Replicating Evidence of Preserved Renal Function: an Investigation of Tolvaptan Safety and Efficacy in ADPKD (REPRISE) trial, and other clinical studies. In addition to its effects on aquaretic adverse events and alanine aminotransferase elevation, the effect of tolvaptan on ADPKD is clear, sustained, and cumulative. While ADPKD is a progressive disease, the early intervention has been shown to be important and beneficial in hypotheses as well as in trials. The use of tolvaptan in pediatric ADPKD involves the following challenges: patient assessment, quality of life assessment, cost-effectiveness, safety, and tolerability. The ongoing, phase 3b, 2-part study (ClinicalTrials.gov identifier: NCT02964273) on the evaluation of tolvaptan in pediatric ADPKD (patients aged 12–17 years) may help obtain some insights. <b><i>Key Messages:</i></b> This review focuses on the rationality of tolvaptan use in pediatric patients with ADPKD, the associated challenges, and the suggested therapeutic approaches.

scholarly journals Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD

Biomedicines ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 601
Author(s):  
Keith Mayl ◽  
Christopher E. Shaw ◽  
Youn-Bok Lee
Keyword(s):  
The Body ◽  
The Novel ◽  
Therapeutic Approaches ◽  
Gain Of Function ◽  
Pathogenic Mechanisms ◽  
Hexanucleotide Repeat ◽  
Primary Driver ◽  
Hexanucleotide Repeat Expansion ◽  
Expansion Mutation ◽  
Lateral Sclerosis

A hexanucleotide repeat expansion mutation in the first intron of C9orf72 is the most common known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Since the discovery in 2011, numerous pathogenic mechanisms, including both loss and gain of function, have been proposed. The body of work overall suggests that toxic gain of function arising from bidirectionally transcribed repeat RNA is likely to be the primary driver of disease. In this review, we outline the key pathogenic mechanisms that have been proposed to date and discuss some of the novel therapeutic approaches currently in development.

P2.26 Clinical, histological and molecular genetic features of a congenital severe infantile rimmed vacuolar myopathy

2010 ◽  
Vol 20 (9-10) ◽  
pp. 626
Author(s):  
A. D’Amico ◽  
S. Petrini ◽  
F. Fattori ◽  
M. Verardo ◽  
R. Boldrini ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Vacuolar Myopathy ◽  
Genetic Features ◽  
Rimmed Vacuolar Myopathy

PTEN – A MOLECULAR MARKER FOR THE DIAGNOSIS OF GLIOMA BABUL REDDY TATIREDDY

2021 ◽  
pp. 45-48
Author(s):  
Babul Reddy Tatireddy
Keyword(s):  
Brain Tumor ◽  
Literature Search ◽  
Recipient Cell ◽  
Primary Brain Tumor ◽  
The Novel ◽  
Cellular Phenotype ◽  
Therapeutic Approaches ◽  
Downstream Signaling ◽  
Novel Biomarkers ◽  
Biomarker Research

Glioblastoma is an uncommon primary brain tumor accounts for upto 15.4% of all primary brain tumors. Although several modern therapies against glioma are discovered, management is still a critical concern. The existing therapies were relatively inconsistent; moreover, the procedures as well are difcult to treat. These ineffective therapeutic approaches led researchers to identify the novel biomarkers that can be implemented with the existing therapies for better management. In this view, along with biomarker research, a literature search for exosomal PTEN detection in glioblastoma was conducted and the recent studies observed that exosomes can transport tumor-suppressive proteins (PTEN) and oncogenic mRNAs, microRNAs to a recipient cell, which subsequently activates the downstream signaling pathways and inuences the cellular phenotype. These exosomes facilitate the transfer of PTEN released from tumor cells to receipt cells that leads to tumor progression. Similarly, glioma was also associated with a reduction or loss of PTEN expression. Hence, our present review aimed to provide a holistic picture of glioblastoma, its pathogenesis and novel biomarkers with an emphasis on PTEN detection in exosomes for the early identication of glioblastoma

scholarly journals Eosinophilic Esophagitis in Brazilian Pediatric Patients

2013 ◽  
Vol 7 ◽  
pp. CMPed.S12733 ◽  
Author(s):  
Mayra Isabel Correia Pinheiro ◽  
Luciano Pamplona De Góes Cavalcanti ◽  
Rodrigo Schuler Honório ◽  
Luïs Hélder De Alencar Moreno ◽  
Mayara Carvalho Fortes ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Topical Corticosteroid ◽  
Eosinophilic Esophagitis ◽  
Pediatric Patients ◽  
Erosive Esophagitis ◽  
Normal Mucosa ◽  
Patient Treatment ◽  
Therapeutic Approaches ◽  
Endoscopic Findings ◽  
The Mean

We examined 11 pediatric patients with eosinophilic esophagitis with a tardy diagnosis. The symptoms were initially thought to be related to other diseases, leading to the use of inadequate therapeutic approaches. The patients were between 3 and 17 years old (mean 7.8 ± 3.8 years), and 8 of the patients were male. Common symptoms included abdominal pain, regurgitation, difficulty in gaining weight, vomiting, dysphagia, and coughing. The mean age for the onset of symptoms was 4.3 ± 2.9 years. Endoscopic findings included normal mucosa in five (45%) patients, thickening of the mucosa with longitudinal grooves in three (27%), erosive esophagitis in two (18%), and a whitish stippling in one (9%) patient. Treatment included the use of a topical corticosteroid for 10 patients. In eight (73%) cases, the treatment made the symptoms disappear. Ten patients underwent histopathological management after treatment, with a decrease in the number of eosinophils.

Translational Research in Cutaneous Melanoma: New Therapeutic Perspectives

2018 ◽  
Vol 18 (2) ◽  
pp. 166-181 ◽  
Author(s):  
Antonio Marra ◽  
Cristina R. Ferrone ◽  
Celeste Fusciello ◽  
Giosue Scognamiglio ◽  
Soldano Ferrone ◽  
...  
Keyword(s):  
Metastatic Melanoma ◽  
Poor Prognosis ◽  
Immune Escape ◽  
Checkpoint Inhibitor ◽  
Predictive Biomarkers ◽  
Driver Mutations ◽  
Targeted Agents ◽  
Therapeutic Approaches ◽  
Aggressive Form ◽  
Immune Escape Mechanisms

Melanoma is an aggressive form of skin cancer characterized by poor prognosis and high mortality. The development of targeted agents based on the discovery of driver mutations as well as the implementation of checkpoint inhibitor-based immunotherapy represents a major breakthrough in the treatment of metastatic melanoma. However, in both cases the development of drug resistance and immune escape mechanisms as well as the lack of predictive biomarkers limits their extraordinary clinical efficacy. In this article, we summarize the available therapeutic options for patients with metastatic melanoma, outline the mechanisms implicated in the resistance to both targeted agents and immunotherapy, discuss potential predictive biomarkers and outline future therapeutic approaches under investigation.

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