Mutation News and Research

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FDA-approved compound promotes photoreceptor survival in lab models of inherited retinal ciliopathy

FDA-approved compound promotes photoreceptor survival in lab models of inherited retinal ciliopathy

Study expands understanding of PAK1-related IDDMSSD

Study expands understanding of PAK1-related IDDMSSD

The proper implementation of stem cell-based disease models

The proper implementation of stem cell-based disease models

Determining the structure of protein pumps using cryo-EM

Determining the structure of protein pumps using cryo-EM

Innovative new approach to constructing a nose in young patients with arhinia

Innovative new approach to constructing a nose in young patients with arhinia

Researchers discover a new intracellular "smoke detector"

Researchers discover a new intracellular "smoke detector"

Genome editing proven effective to restore the vision of mice with genetic diseases

Genome editing proven effective to restore the vision of mice with genetic diseases

Using a programmable control switch to deliver therapeutic RNA molecules to target cells

Using a programmable control switch to deliver therapeutic RNA molecules to target cells

Effective backup mechanism ensures efficient antimicrobial responses in humans

Effective backup mechanism ensures efficient antimicrobial responses in humans

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Potential therapeutic can synergize with existing drugs to effectively destroy leukemia cells

Potential therapeutic can synergize with existing drugs to effectively destroy leukemia cells

Pathogenic fungus binds to a human protein to escape elimination from lung cells

Pathogenic fungus binds to a human protein to escape elimination from lung cells

Deeper understanding of T-cell responses may lead to better, more personalized immunotherapies

Deeper understanding of T-cell responses may lead to better, more personalized immunotherapies

Study pinpoints a splicing deregulation that causes therapeutic vulnerability in pediatric AML

Study pinpoints a splicing deregulation that causes therapeutic vulnerability in pediatric AML

Researchers discover how specific mutation in a bacterium results in phage resistance

Researchers discover how specific mutation in a bacterium results in phage resistance

New insights into the underlying mechanism that causes arrhythmogenic cardiomyopathy

New insights into the underlying mechanism that causes arrhythmogenic cardiomyopathy

Uncovering the complete 3D structure of p53 protein

Uncovering the complete 3D structure of p53 protein

Women over 50 with genetic BRCA1 or BRCA2 mutation face a high risk of cancer

Women over 50 with genetic BRCA1 or BRCA2 mutation face a high risk of cancer

New molecular understanding of how head injury may contribute to glioma risk

New molecular understanding of how head injury may contribute to glioma risk

Study shows why a specific gene mutation has opposite effects on mice and human cancers

Study shows why a specific gene mutation has opposite effects on mice and human cancers

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