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Scientists identify genetic clues to chronic kidney disease

Using international genomic studies backed by proof-of-concept cell experiments, researchers have identified two genes that contribute to the chronic kidney disease glomerulonephritis.

16 Mar 2017

Study provides insights into genetic, neuronal circuit mechanisms linked to autism's impaired sociability

Researchers at Beth Israel Deaconess Medical Center have gained new insight into the genetic and neuronal circuit mechanisms that may contribute to impaired sociability in some forms of Autism Spectrum Disorder.

16 Mar 2017

Researchers discover genetic bases of Opitz C syndrome

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world.

10 Mar 2017

Researchers complete design phase for fully synthetic yeast genome

Working as part of an international research consortium, a multidisciplinary team at The Johns Hopkins University has completed the design phase for a fully synthetic yeast genome.

10 Mar 2017

KRAS ‘imbalances’ that emerge over time may influence cancer treatment response

Choosing among cancer treatments increasingly involves determining whether tumor cells harbor specific, mutated "oncogenes" that drive abnormal growth and that may also be especially vulnerable or resistant to particular drugs.

28 Feb 2017

Review shows lipid nanoparticles as highly promising delivery systems in gene therapy

Lipid nanoparticles (SLNs and NLCs) are regarded as highly promising systems for delivering nucleic acids in gene therapy.

14 Feb 2017

Parenting practices linked to development of children with Fragile X syndrome

University of Kansas researchers have found that certain specific parenting practices are significantly associated with the development of communication and language skills in children with Fragile X syndrome.

14 Feb 2017

Research shows how protein component of Epstein-Barr virus promotes development of cancer

After an infection with the Epstein-Barr virus (EBV), the virus persists in the body throughout a person's lifetime, usually without causing any symptoms.

13 Feb 2017

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

Research led by scientists at UC San Francisco and Case Western Reserve University School of Medicine has used brain "organoids" — tiny 3D models of human organs that scientists grow in a dish to study disease — to identify root causes of Miller-Dieker Syndrome (MDS), a rare genetic disorder that causes fatal brain malformations.

7 Feb 2017

Scientists identify structure of androgenic receptor essential to fight against prostate cancer

A team led by researchers of the Institute of Biomedicine of the University of Barcelona and the Research Institute of the Hospital de la Santa Creu i Sant Paushows for the first time, the three-dimensional structure of the homodimeric androgen receptor ligand-binding domain, a structure that eluded researchers for years.

6 Feb 2017

Study supports clinical utility of DNA-based prenatal blood test in all pregnant women

A DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk women has moved a step closer to use in the general pregnancy population.

From Natera 3 Feb 2017

TSRI study offers first look at early stages of brain development in patients with Fragile X syndrome

A new study led by scientists at The Scripps Research Institute is giving researchers a first look at the early stages of brain development in patients with Fragile X syndrome, a disorder that causes mild to severe intellectual disability and is the most common genetic cause of autism spectrum disorder.

31 Jan 2017

Researchers discover genes that could serve as therapeutic targets to reverse Rett syndrome

Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder.

31 Jan 2017

Researchers discover earliest-acting protein in C-elegans that plays key role in cell division

Researchers from three U.S. universities have identified, using roundworms, the earliest-acting protein known to duplicate the centriole, a tiny cylinder-shaped structure that is a key component of the machinery that organizes cell division in animals.

31 Jan 2017

Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by investigators at the Icahn School of Medicine at Mount Sinai.

30 Jan 2017

Johns Hopkins scientists reveal extra centrosomes can promote tumor formation in mice

When a cell is dividing, two identical structures, called centrosomes, move to opposite sides of the cell to help separate its chromosomes into the new cells.

28 Jan 2017

Missing gene may cause kidney and urinary tract defects in people with DiGeorge syndrome

Loss of function of the CRKL gene causes kidney and urinary tract defects in people with DiGeorge syndrome, a multinational team of scientists led by Columbia University Medical Center has found.

25 Jan 2017

Shorter chromosome 'caps' linked to higher burden of disease later in life

New research indicates that people who had more infections as babies harbor a key marker of cellular aging as young adults: the protective stretches of DNA which "cap" the ends of their chromosomes are shorter than in adults who were healthier as infants.

25 Jan 2017

Caspase-2 enzyme deficiency linked to higher cancer risk

Researchers from the Centre for Cancer Biology at the University of South Australia have found that a deficiency of caspase-2 enzymes place people at a higher risk of developing tumours.

25 Jan 2017

UI biologists discover protein that appears to regulate chromosome movement

Before an egg becomes fertilized, sets of chromosomes must pair up to pass along genetic information. This happens within each reproductive cell, where separate chromosomes of male and female origin move toward each other and eventually join.

25 Jan 2017

X chromosome News and Research

Scientists identify genetic clues to chronic kidney disease

Study provides insights into genetic, neuronal circuit mechanisms linked to autism's impaired sociability

Researchers discover genetic bases of Opitz C syndrome

Researchers complete design phase for fully synthetic yeast genome

KRAS ‘imbalances’ that emerge over time may influence cancer treatment response

Review shows lipid nanoparticles as highly promising delivery systems in gene therapy

Parenting practices linked to development of children with Fragile X syndrome

Research shows how protein component of Epstein-Barr virus promotes development of cancer

Scientists use brain organoids to identify root causes of Miller-Dieker syndrome

Scientists identify structure of androgenic receptor essential to fight against prostate cancer

Study supports clinical utility of DNA-based prenatal blood test in all pregnant women

TSRI study offers first look at early stages of brain development in patients with Fragile X syndrome

Researchers discover genes that could serve as therapeutic targets to reverse Rett syndrome

Researchers discover earliest-acting protein in C-elegans that plays key role in cell division

Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

Johns Hopkins scientists reveal extra centrosomes can promote tumor formation in mice

Missing gene may cause kidney and urinary tract defects in people with DiGeorge syndrome

Shorter chromosome 'caps' linked to higher burden of disease later in life

Caspase-2 enzyme deficiency linked to higher cancer risk

UI biologists discover protein that appears to regulate chromosome movement

Leveraging the power of automation to boost research

Automating research - solutions and best practices

How can microdialysis benefit drug development

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