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Tag: mutations

Unraveling the Impact of the “Uppsala Deletion” APP Mutation on Alzheimer’s Disease
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Unraveling the Impact of the “Uppsala Deletion” APP Mutation on Alzheimer’s Disease

The post Unraveling the Impact of the “Uppsala Deletion” APP Mutation on Alzheimer’s Disease appeared first on News Directory 3.
Dr. Jingeon Bae Genes are the underlying factor in many human diseases. The amyloid precursor protein (APP) gene encodes amyloid precursor protein (APP), a transmembrane protein that produces the amyloid Aβ peptide. Mutations in APP are an intrinsic factor in familial forms of early-onset Alzheimer’s disease and cerebral amyloid angiopathy (CAA). These pathogenic mutations typically […]

Genetic Mutations in Children and Adolescents with Type 2 Diabetes: Insights from Seoul National University Hospital Study
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Genetic Mutations in Children and Adolescents with Type 2 Diabetes: Insights from Seoul National University Hospital Study

Results of analysis of genetic mutations causing type 2 diabetes in children and adolescents/data = Seoul National University Hospital Recently, following large-scale analysis of type 2 diabetes genomes in children and adolescents by an international joint research team, early-onset type 2 diabetes under age 20 has 20% of mutations genetics related to diabetes that have […]
The post Genetic Mutations in Children and Adolescents with Type 2 Diabetes: Insights from Seoul National University Hospital Study appeared first on News Directory 3.

The Role of Genetic Testing and Advanced Technologies in Disease Diagnosis and Treatment
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The Role of Genetic Testing and Advanced Technologies in Disease Diagnosis and Treatment

The post The Role of Genetic Testing and Advanced Technologies in Disease Diagnosis and Treatment appeared first on News Directory 3.
Genetic testing is an important tool for understanding an individual’s risk of genetic diseases and diagnosing various genetic diseases. In addition to finding genetic mutations through gene sequencing, “cytogenetics” can also be used to look at samples of human tissue, blood or bone marrow. dividing cells are analyzed for abnormalities such as the number and […]

The Prognosis for Pancreatic Cancer Patients with Specific Genetic Mutations
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The Prognosis for Pancreatic Cancer Patients with Specific Genetic Mutations

Journalist Seungjae Lee [email protected] | 2024-02-20 08:01:25 ▲ Research results have shown that pancreatic cancer patients with specific genetic mutations have a good prognosis. (Photo = DB) [메디컬투데이=이승재 기자] A study has shown that pancreatic cancer patients with specific genetic mutations have a good prognosis. The results of a study on the survival rate of […]
The post The Prognosis for Pancreatic Cancer Patients with Specific Genetic Mutations appeared first on News Directory 3.

New Treatment for Charcot Disease: Molecular Stabilizer Shows Promise in Animal Studies
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New Treatment for Charcot Disease: Molecular Stabilizer Shows Promise in Animal Studies

2024-01-31 00:28:23 In many cases, hereditary mutations in a gene that produces the protein in question are the cause of Charcot disease. But these mutations can also occur without a family history. Mutations in this gene, SOD1, lead to poor assembly of the protein which prevents it from carrying out its tasks and disrupts the … Read more

The post New Treatment for Charcot Disease: Molecular Stabilizer Shows Promise in Animal Studies appeared first on Archyde.