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Promoter Mutations and Their Association with Autism Risk

The RIKEN Center for Brain Science (CBS) employed genome mutation analysis to investigate the genetics of autism spectrum disorder (ASD) in people and their families. They found that the way a certain type of genetic mutation contributes to the illness differs from that of ordinary mutations.

29 Jan 2024

Golgi Organelle's Crucial Role in Stress Responses

For more than a century, scientists have been aware of a certain organelle found in plant cells. That organelle's crucial function in aging, however, has only recently been uncovered by UC Riverside scientists.

18 Jan 2024

Study Uncovers Chromatin Modifier-Centered Pathway for Grain Size Regulation in Rice

Chromatin is the complex of DNA and proteins that makes up the genetic material in the nucleus of eukaryotic cells.

18 Jan 2024

Understanding How Inherited DNA Variations Influence Blood Cancer Development

Large-scale genetic analysis has helped researchers uncover the interplay between cancer-driving genetic mutations and inherited genetic variants in a rare type of blood cancer.

18 Jan 2024

Big Data Analysis Reveals Hidden Patterns in Human Chromosomes

IRB Barcelona researchers find 13 unique genomic patterns in unexpected patterns in mutation risks across individuals.

11 Jan 2024

Studies Explore Different Strategies for Phenotypic Innovation in Pitcher Plants and Marine Snails

In a pair of studies, researchers use different approaches to investigate how complex and innovative phenotypic traits evolve in plants and animals.

5 Jan 2024

B12-Producing Gut Bacteria Modulate Neurotransmitter Levels and Reduce Seizures in C. elegans

A new study published in Nature Cell Biology by Mark Alkema, PhD, professor of neurobiology, establishes an important molecular link between specific B12-producing bacteria in the gut of the roundworm C. elegans and the production of acetylcholine, a neurotransmitter important to memory and cognitive function.

5 Jan 2024

Zipping Up Chromosomes: The Synaptonemal Complex Revealed

We have two copies of each chromosome in every cell in our bodies except in our reproductive cells. Sperm and egg cells contain a single copy of each chromosome with a unique mix of genes from our parents, an evolutionary trick to give our offspring genetic variability.

4 Jan 2024

Genetic Twist in Tiny Protein Protects Against Parkinson's

A previously unidentified genetic mutation in a small protein provides significant protection against Parkinson's disease and offers a new direction for exploring potential treatments, according to a new USC Leonard Davis School of Gerontology study.

3 Jan 2024

Study Reveals Tissue-Specific Effects of JAK1 Signaling in Inflammation

Researchers at the Icahn School of Medicine at Mount Sinai have gained a deeper understanding of the nuanced roles of JAK inhibitors, or modulators, in inflammation across various cell types and tissues.

26 Dec 2023

Scientists Unravel the Mystery of Parkinson's Disease With 3D Protein Structures

Scientists at St. Jude Children's Research Hospital revealed the complex structure of two Parkinson's disease-related proteins, both of which are implicated in late-onset cases.

26 Dec 2023

NEMO Protein Promotes Degradation of Harmful Alpha-Synuclein Aggregates in Parkinson's Disease

Researchers have identified a mechanism that promotes the breakdown of harmful protein deposits. If it malfunctions, it can lead to Parkinson’s disease.

21 Dec 2023

NTNU Develops Dual-Mechanism Antibiotic Strategy to Combat Antimicrobial Resistance

NTNU has developed a promising antibiotic candidate against MRSA. Behind the discovery lies a methodology that may be important in the fight against antimicrobial resistance.

18 Dec 2023

Innovative Machine Learning Tool Predicts Functional Consequences of Genetic Variants

In a recent research, scientists from the Icahn School of Medicine at Mount Sinai unveiled LoGoFunc, an innovative computational tool designed to forecast both pathogenic gain- and loss-of-function variants throughout the genome.

15 Dec 2023

Study Elucidates How Mutant NPM1 Protein Drives Leukemia by Activating Autophagy System

In a recent study, scientists led by Professor Stefan Müller from Goethe University's Institute of Biochemistry II investigated a specific form of blood cancer known as acute myeloid leukemia, or AML.

5 Dec 2023

New Irreversible Inhibitor Overcomes Drug Resistance in Cancer Cells

The concept of irreversible inhibitors binding permanently to a target protein has garnered growing interest for potential applications in drug development.

30 Nov 2023

New Model Reveals How Cells Maintain Epigenetic Memory During Cell Division

Every cell in the human body contains the same genetic instructions, encoded in its DNA. However, out of about 30,000 genes, each cell expresses only those genes that it needs to become a nerve cell, immune cell, or any of the other hundreds of cell types in the body.

17 Nov 2023

Mutation News and Research

Promoter Mutations and Their Association with Autism Risk

Golgi Organelle's Crucial Role in Stress Responses

Study Uncovers Chromatin Modifier-Centered Pathway for Grain Size Regulation in Rice

Understanding How Inherited DNA Variations Influence Blood Cancer Development

Big Data Analysis Reveals Hidden Patterns in Human Chromosomes

Studies Explore Different Strategies for Phenotypic Innovation in Pitcher Plants and Marine Snails

B12-Producing Gut Bacteria Modulate Neurotransmitter Levels and Reduce Seizures in C. elegans

Zipping Up Chromosomes: The Synaptonemal Complex Revealed

Genetic Twist in Tiny Protein Protects Against Parkinson's

Study Reveals Tissue-Specific Effects of JAK1 Signaling in Inflammation

Scientists Unravel the Mystery of Parkinson's Disease With 3D Protein Structures

NEMO Protein Promotes Degradation of Harmful Alpha-Synuclein Aggregates in Parkinson's Disease

NTNU Develops Dual-Mechanism Antibiotic Strategy to Combat Antimicrobial Resistance

Innovative Machine Learning Tool Predicts Functional Consequences of Genetic Variants

Study Elucidates How Mutant NPM1 Protein Drives Leukemia by Activating Autophagy System

New Irreversible Inhibitor Overcomes Drug Resistance in Cancer Cells

New Model Reveals How Cells Maintain Epigenetic Memory During Cell Division

Rare Genetic Variant Found to Protect Against Alzheimer's Disease

Epidemiology and Genetic Underpinnings of Clonal Hematopoiesis

Plants Exploit Randomness to Avoid Mitochondrial Damage

Expert Insights: HiMedia Labs on Advancing Nucleic Acid Extraction Across Industries

Quorum Bio: Where Synthetic Biology Meets Sustainable Farming

Diagnostic Biochips: Pioneering Brain Research Tools for the Future

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