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By Nucleati Team

The Role of PRF1 Gene in Immune-Mediated Disorders, Hemophagocytic Lymphohistiocytosis, and Malignancies

This blog post presents evidence collected from the Nucleotide Germline Cancer Evidence Base, highlighting the association between PRF1 gene mutations and various immune-mediated disorders and malignancies.

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By Nucleati Team

Decoding RUNX1 Mutations: Exploring the Spectrum of Clinical Outcomes in Blood Disorders

Germline mutations in the RUNX1 gene are associated with a rare autosomal dominant disorder known as Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML).

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By Nucleati Team

ARMC5 Mutations and Meningioma

The ARMC5 gene codes for a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. ARM family members are observed near the nucleus and may play a role as a tumor suppressor through protein-protein interactions. 

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By Nucleati Team

SPINK1 Gene Mutation & Pancreatic Cancer

The serine protease inhibitor Kazal type 1 (SPINK1) is a potent anti-protease present in the cytoplasm of pancreatic cells, where its primary role is to prevent the auto-digestion of the gland by inactivating the intra-pancreatic trypsin enzyme.

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By Nucleati Team

CPIC guidelines: Introduction and Role in Practicing Pharmacogenetics in Clinics

One of precision medicine's objectives is to optimize drug therapy. Prescribing optimized drug...

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By Nucleati Team

FAERS: FDA Adverse Event Reporting System

The FDA Adverse Event Reporting System (FAERS) is a public database containing information on adverse events and medication errors. An adverse event is any symptom ...

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By Nucleati team

Role of rubrics in the Determination of Association, Causation, and Classification in the Medical Field

With advances in technology and human understanding of physiological processes, the number of associations between medically relevant entities, like disease, genes, genomic variations, environmental factors...

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By Nucleati team

Evidence of efficacy for fecal microbiome transplantation in gastrointestinal and other diseases

The fecal microbiome transplantation (FMT) transfers the solution of feces from a healthy donor into the gastrointestinal tract of a diseased person to restore the balance of microbiota in the recipient’s intestines and confer a health benefit.

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By Nucleati Team

Importance of Compiling Case Reports of Adverse Drug Reactions & Their Role in Precision Medicine

It is nearly impossible to design a drug molecule that only has targetted effect in all living individuals. Even commonly used over-the-counter drugs, deemed and recognized by authorities as safe, can cause undesirable effects in some "hypersensitive" individuals.

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By Nucleati Team

Three types of resources with evidence and actionable knowledge for evidence-based medicine

Evidence-based medicine (EBM) is the conscientious, explicit, judicious, and reasonable use of the latest evidence in making decisions for the care of patients.

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