GSE219136 Screen for genes showing synthetic lethality with NF2 in Schwannoma [Other]
Contributors : Kyrkou Athena ; Teleman AurelioSeries Type : OtherOrganism : Homo sapiensNeurofibromatosis Type II is a genetic condition caused by loss of the NF2 gene, resulting in activation of the YAP/TAZ pathway and recurrent growth of benign tumors from Schwann cells, the glia of the peripheral nervous system. Unfortunately, no pharmacological therapy is currently available for NFII. Here, we undertake a genome-wide CRISPR/cas9 screen to search for synthetic-lethal genes that, when inhibited, cause death of NF2 mutant cells but not NF2 wildtype cells. We thereby identify ACSL3 and G6PD as two synthetic-lethal partne...
Source: GEO: Gene Expression Omnibus - April 24, 2024 Category: Genetics & Stem Cells Tags: Other Homo sapiens Source Type: research
GSE219135 Screen for genes showing synthetic lethality with NF2 in Schwannoma [RNA-Seq]
Contributors : Kyrkou Athena ; Teleman AurelioSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensNeurofibromatosis Type II is a genetic condition caused by loss of the NF2 gene, resulting in activation of the YAP/TAZ pathway and recurrent growth of benign tumors from Schwann cells, the glia of the peripheral nervous system. Unfortunately, no pharmacological therapy is currently available for NFII. Here, we undertake a genome-wide CRISPR/cas9 screen to search for synthetic-lethal genes that, when inhibited, cause death of NF2 mutant cells but not NF2 wildtype cells. We thereby identify ...
Source: GEO: Gene Expression Omnibus - April 24, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Recommendations for pharmacogenetic testing in clinical practice guidelines in the US
CONCLUSION: A standardized approach to evaluating the evidence of clinical utility for pharmacogenetic testing may increase the inclusion and consistency of pharmacogenetic testing recommendations in clinical practice guidelines, which could benefit patients and society by increasing clinical use of pharmacogenetic testing.PMID:38652504 | DOI:10.1093/ajhp/zxae110 (Source: American Journal of Health-System Pharmacy : AJHP)
Source: American Journal of Health-System Pharmacy : AJHP - April 23, 2024 Category: Drugs & Pharmacology Authors: Daniel L Hertz Chad A Bousman Howard L McLeod Andrew A Monte Deepak Voora Lori A Orlando Rustin D Crutchley Benjamin Brown Wrenda Teeple Sara Rogers Jai N Patel Source Type: research
Recommendations for pharmacogenetic testing in clinical practice guidelines in the US
CONCLUSION: A standardized approach to evaluating the evidence of clinical utility for pharmacogenetic testing may increase the inclusion and consistency of pharmacogenetic testing recommendations in clinical practice guidelines, which could benefit patients and society by increasing clinical use of pharmacogenetic testing.PMID:38652504 | DOI:10.1093/ajhp/zxae110 (Source: American Journal of Health-System Pharmacy : AJHP)
Source: American Journal of Health-System Pharmacy : AJHP - April 23, 2024 Category: Drugs & Pharmacology Authors: Daniel L Hertz Chad A Bousman Howard L McLeod Andrew A Monte Deepak Voora Lori A Orlando Rustin D Crutchley Benjamin Brown Wrenda Teeple Sara Rogers Jai N Patel Source Type: research
Newborn screening in Colombia: The experience of a private program in Bogot á
Conclusions. Abnormal hemoglobin causes the most frequent monogenic disorder in the world. Glucose-6-phosphate dehydrogenase deficiency is the most common enzymopathy affecting nearly 400 million individuals worldwide. Since both disorders are more common in people of African descent and confer some resistance to malaria, we believe that screening for both disorders may be more relevant in the areas with African ancestry in our country.PMID:38648350 | DOI:10.7705/biomedica.6911 (Source: Biomedica : Revista del Instituto Nacional de Salud)
Source: Biomedica : Revista del Instituto Nacional de Salud - April 22, 2024 Category: International Medicine & Public Health Authors: Jaime E Bernal Martha Luc ía Tamayo Ignacio Brice ño Escilda Benavides Source Type: research
A retrospective study of intravenous pentamidine for PCP prophylaxis in adult patients with hematological malignancies – its utility during respiratory virus pandemics
In Haematology, prophylaxis for Pneumocystis jirovecii pneumonia (PCP) is recommended for patients undergoing hematopoietic stem cell transplantation (HSCT) and in selected categories of intensive chemotherapy for hematological malignancies (HM) [1]. Trimethoprim –sulfamethoxazole (TMP-SMX) is the recommended first-line agent, but its use is not straightforward, as it can be associated with myelosuppression and elevation of potassium and creatinine [2]. Furthermore, many patients have a sulfa allergy, and some are G6PD (glucose-6-phosphate dehydrogenase) d eficient [3]. (Source: International Journal of Infectious Diseases)
Source: International Journal of Infectious Diseases - April 12, 2024 Category: Infectious Diseases Authors: Yi Xin Liew, Aloysius Yew Leng Ho, Gee Chuan Wong, Shimin Jasmine Chung, Thuan Tong Tan, Ban Hock Tan Tags: Short Communication Source Type: research
Glucometabolic-Related Genes as Diagnostic Biomarkers and Therapeutic Targets for Alzheimer's Disease and Type 2 Diabetes Mellitus: A Bioinformatics Analysis
CONCLUSION: Our rigorous research sheds light on the molecular interconnections between AD and T2DM from a glucometabolic perspective, revealing new opportunities for pharmacological innovation and therapeutic approaches. This study appears to be the first to extensively investigate glucometabolic-associated DEGs and key genes in both AD and T2DM, utilizing multiple datasets. These insights are set to enhance our understanding of the complex pathophysiology underlying these widespread chronic diseases.PMID:38595695 | PMC:PMC11003797 | DOI:10.1155/2024/5200222 (Source: Neurology Research International)
Source: Neurology Research International - April 10, 2024 Category: Neurology Authors: Shuo Liu He Chen Xiao-Dong He Xiao-Ou Yang Source Type: research
Associations between COVID-19 and Glucose-6-Phosphate Dehydrogenase Activity in Brazil
In conclusion, this study does not demonstrate an association of G6PDd with severity of COVID-19. Limitations of the test for detecting enzyme levels during COVID-19 illness were demonstrated by genotyping and retesting after the disease period. Care must be taken when screening for G6PDd in patients with acute COVID-19.PMID:38593787 | DOI:10.4269/ajtmh.23-0148 (Source: The American Journal of Tropical Medicine and Hygiene)
Source: The American Journal of Tropical Medicine and Hygiene - April 9, 2024 Category: Tropical Medicine Authors: Maria Gabriela de Almeida Rodrigues Wuelton Marcelo Monteiro Gisely Cardoso de Melo Ádila Liliane Barros Dias Marco Aur élio Sartim Mariana Sim ão Xavier Rebeca Linhares Abreu Netto Fernando Fonseca Almeida Djane Clarys Ba ía-da-Silva Jos é Diego Bri Source Type: research
