Autosomal News and Research

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Advanced Sequencing Uncovers Cause of Rare Mitochondrial Encephalopathy

Mitochondrial diseases are among the most prevalent hereditary metabolic disorders, known to occur in one out every 5000 births.

19 Nov 2024

Study Explores the Role of Sex-Biased Gene Expression in Autism Risk During Prenatal Development

The cortex of prenatal donors to determine differentially expressed genes based on sex and potentially identify molecular and cellular mechanisms that contribute to ASD.

7 Aug 2024

Breakthrough Method Captures Aging Impact on Alzheimer’s Disease in Lab-Grown Neurons

Researchers at Washington University School of Medicine in St. Louis have developed a way to capture the effects of aging in the development of Alzheimer's disease.

2 Aug 2024

Christchurch Variant Offers Protection Against Early-Onset Alzheimer's

A scientific story that began with a discovery in just one extraordinary patient is now panning out.

21 Jun 2024

Genetic Analysis Unveils Underlying Causes of Chronic Kidney Disease

Chronic kidney disease (CKD) is extremely prevalent among adults, affecting over 800 million individuals worldwide.

4 Apr 2024

Structural and Biochemical Mechanism of ALDH6A1 Uncovered

ALDH6A1, a member of the ALDH family, plays a crucial role in the catabolic pathways of valine and thymine. Dysregulation of ALDH6A1 expression has been linked to a variety of diseases.

30 Mar 2024

Genetic Mechanisms of Alzheimer's Revealed in Colombian Kindred

UC Santa Barbara researchers and collaborators in Colombia, Brazil and Germany are progressing toward an understanding of mechanisms that underlie Alzheimer's disease, in particular an early-onset, genetic form that has afflicted generations of an extended family in Colombia.

28 Feb 2024

Ancient DNA Study Finds Evidence of Chromosomal Disorders

By analyzing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains.

21 Feb 2024

Yourgene Health Launches MagBench Automated DNA Extraction Instrument and Kit for NIPT Workflows

Yourgene Health plc (“Yourgene”), a leading international molecular diagnostics group, today launched the Yourgene® MagBench™ Automated DNA Extraction Instrument and Kit. MagBench solution is available to Sage™ customers across Asia-Pacific and the Middle East.

5 Sep 2023

Scientists correct limb length in mouse model of autosomal dominant Robinow Syndrome

Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system.

16 Feb 2023

Genome of the earliest common ancestor of all mammals identified

From a platypus to a blue whale, all living mammals today are derived from a single ancestor that existed around 180 million years ago. Although nothing much is known about this species, an international team of experts has now computationally rebuilt how its DNA is organized.

From The University of California, Davis 28 Sep 2022

Study explores that extra dosages of genes may lead to surplus X chromosomes

One out of every 500 to 1,000 boys is born with one or more extra X chromosomes, which can cause a variety of symptoms as the extra chromosomes to including infertility, larger breasts, osteoporosis, diabetes, cardiac problems, intellectual incapacity, and cancer.

1 Apr 2022

Yale and uOttawa researchers partner to solve a puzzle rooted in the deepest past of evolution

For decades, scientists have been trying to unravel an enduring mystery of structural biology: Why do two otherwise identical protein forms found in everything from plants, amphibians and human beings hang onto a slight variation across the mighty span of evolution?

21 Mar 2022

Robust electron microscope provides mechanistic insight into protein degradation

Proteins are the building blocks of all living things and numerous studies are carried out to determine how these proteins are made and their function.

19 Nov 2021

Newly developed method helps refine the "Out of Africa" scenario

Researchers from Estonia and Italy developed an innovative method by combining neural networks and statistics. Using this newly developed method, they refined the "Out of Africa" scenario. The researchers claimed that the African dynamics around the time of the Out of Africa expansion are more complex than previously thought.

11 Oct 2021

“Hidden genetic defects” can cause a variety of illnesses in children

For the first time, scientists have gained a better understanding of the “hidden genetic defects” of the general population in Europe.

22 Mar 2021

Researchers discover genetic risk factor for stroke

A research team from Geisinger Health System has detected a common genetic variant as a risk factor for stroke, particularly in patients aged more than 65.

20 Jan 2021

Study uncovers unusual sex chromosomes of Australian iconic animals

The sex chromosomes genetically define the developmental fate of an embryo to become a male or a female individual, and usually, appear as one pair of morphologically different chromosomes between sexes.

8 Jan 2021

Study sheds new light on a genetic developmental disorder

The rare hereditary developmental disorder, called Meier-Gorlin syndrome, or MGS for short, causes dwarfism, missing patella, a small brain, small ears, and other skeletal abnormalities. This condition leads to stillbirths and miscarriages in severe cases.

15 Dec 2020

Research clarifies regulatory impacts of ubiquitin-proteasome system on DNA damage repair

An international research team has clarified the regulatory mechanism of the ubiquitin-proteasome system (*1) in recognizing and repairing DNA that has been damaged by ultraviolet (UV) light.

9 Dec 2020