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New assessment tool under development can help detect physical traits of Klinefelter syndrome

New assessment tool under development can help detect physical traits of Klinefelter syndrome

Klinefelter syndrome is the most common disorder of the male sex chromosomes, yet is rarely diagnosed in children. A new assessment tool is being developed by researchers at Columbia University Medical Center (CUMC) to help pediatricians detect the physical traits of the syndrome. The tool could pave the way for early interventions that prevent and treat a range of physical, psychological, social, and cognitive impairments. [More]
Scientists and families to gather in The Woodlands, Texas to build up community around Christianson Syndrome

Scientists and families to gather in The Woodlands, Texas to build up community around Christianson Syndrome

It takes a committed community to develop effective treatments for a new disease. With that hope, scientists and families will come together in a Houston suburb July 30- Aug. 2 to build up the community around Christianson Syndrome, a genetic intellectual disability disorder, often associated with autistic features, first discovered 16 years ago. [More]
New research links mutations in TEX11 gene to some cases of male infertility

New research links mutations in TEX11 gene to some cases of male infertility

In the most severe form of male infertility, men do not make any measurable levels of sperm. This condition, called azoospermia, affects approximately 1 percent of the male population and is responsible for about a sixth of cases of male infertility. [More]
Kay E. Davies named recipient of ASHG's 2015 William Allan Award

Kay E. Davies named recipient of ASHG's 2015 William Allan Award

The American Society of Human Genetics has named Kay E. Davies, DPhil, Dr. Lee's professor of anatomy, associate head of the medical sciences division; and director of the Medical Research Council Functional Genomics Unit in the department of physiology, anatomy and genetics at the University of Oxford, the 2015 recipient of the annual William Allan Award. [More]
Two fragile X proteins play crucial role in proper development of neurons

Two fragile X proteins play crucial role in proper development of neurons

Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms behind fragile X could make important revelations about the brain. [More]
TGen-led study associates 'X-linked' syndromes to genetic origins

TGen-led study associates 'X-linked' syndromes to genetic origins

A study led by the Translational Genomics Research Institute has for the first time matched dozens of infantile diseases and syndromes involving muscle weakness and stiff joints to their likely genetic origins. [More]
Researchers identify potential treatment target for fragile X carriers

Researchers identify potential treatment target for fragile X carriers

Fragile X syndrome, an inherited cause of autism and intellectual disability, can have consequences even for carriers of the disorder who don't have full-blown symptoms. [More]
TERT gene alterations co-occur with frequently altered bladder cancer genes

TERT gene alterations co-occur with frequently altered bladder cancer genes

In results presented today at the American Association for Cancer Research Annual Meeting 2015, a collaborative study by the University of Colorado Cancer Center and the National Cancer Institute reports that the TERT gene promoter was altered in 69 percent of 54 cases of bladder cancer due to variants that occur after birth (called "somatic") and in 56 percent of bladder cancers due to inherited variants (called "germline"). [More]
Big data helps discover gephyrin protein's connection in human history

Big data helps discover gephyrin protein's connection in human history

Big data: It's a term we read and hear about often, but is hard to grasp. Computer scientists at Washington University in St. Louis' School of Engineering & Applied Science tackled some big data about an important protein and discovered its connection in human history as well as clues about its role in complex neurological diseases. [More]
Research: Common bacteria poised to become antibiotic-resistant superbugs

Research: Common bacteria poised to become antibiotic-resistant superbugs

Antibiotic resistance is poised to spread globally among bacteria frequently implicated in respiratory and urinary infections in hospital settings, according to new research at Washington University School of Medicine in St. Louis. [More]
Study: Blood test may help diagnose Fragile X syndrome related disorders in women

Study: Blood test may help diagnose Fragile X syndrome related disorders in women

A blood test may shed new light on Fragile X syndrome related disorders in women, according to a new study published in the March 25, 2015, online issue of Neurology, the medical journal of the American Academy of Neurology. Fragile X is the most common inherited form of intellectual disability and the most frequent genetic cause of autism. [More]
Iceland paint a genomic picture for an entire nation

Iceland paint a genomic picture for an entire nation

Researchers in Iceland have published the largest ever studies of whole-genome data and effectively deduced the genetic code of “an entire nation.” [More]
Mount Sinai researchers reprogram blood cells into iPSCs to study genetic origins of MDS

Mount Sinai researchers reprogram blood cells into iPSCs to study genetic origins of MDS

Induced pluripotent stem cells (iPSCs) -- adult cells reprogrammed back to an embryonic stem cell-like state--may better model the genetic contributions to each patient's particular disease. In a process called cellular reprogramming, researchers at Icahn School of Medicine at Mount Sinai have taken mature blood cells from patients with myelodysplastic syndrome (MDS) and reprogrammed them back into iPSCs to study the genetic origins of this rare blood cancer. [More]
Fourth-line bosutinib ‘appropriate’ after prior CML treatment failure, intolerance

Fourth-line bosutinib ‘appropriate’ after prior CML treatment failure, intolerance

A Spanish study suggests that bosutinib can help improve or maintain response in patients with chronic myeloid leukaemia after treatment failure of three previous tyrosine kinase inhibitors. [More]
Male genetic diversity declined due to wealth, power rather than `survival of fittest`

Male genetic diversity declined due to wealth, power rather than `survival of fittest`

The DNA you inherit from your parents contributes to the physical make-up of your body -- whether you have blue eyes or brown, black hair or red, or are male or female. [More]
RMANJ acquires IVF New Jersey

RMANJ acquires IVF New Jersey

Reproductive Medicine Associates of New Jersey, a world-renowned leader in the field of infertility, today announced the strategic acquisition of IVF New Jersey Fertility and Gynecology Center, one of the largest fertility centers in New Jersey. [More]
Genetic markers may help decide who benefits from aspirin, NSAIDs in lowering risk of colorectal cancer

Genetic markers may help decide who benefits from aspirin, NSAIDs in lowering risk of colorectal cancer

An Indiana University cancer researcher and her colleagues have identified genetic markers that may help determine who benefits from regular use of aspirin and other nonsteroidal anti-inflammatory drugs for lowering one's risk of developing colorectal cancer. [More]
Super-resolution microscopes reveal the link between genome packaging and cell pluripotency

Super-resolution microscopes reveal the link between genome packaging and cell pluripotency

In 1953 Watson and Crick first published the discovery of the double helix structure of the DNA. They were able to visualize the DNA structure by means of X-Ray diffraction. Techniques, such as electron microscopy, allowed scientists to identify nucleosomes, the first and most basic level of chromosome organisation [More]
Researchers discover gene associated with congenital anomaly of urinary tract

Researchers discover gene associated with congenital anomaly of urinary tract

An interdisciplinary team of researchers under the direction of the University of Bonn Hospital have discovered a gene which is associated with a rare congenital anomaly of the urinary tract called classic bladder exstrophy. [More]
Understanding genetic machinery that drives malignant pediatric adrenocortical tumors

Understanding genetic machinery that drives malignant pediatric adrenocortical tumors

In an advance that could lead to better identification of malignant pediatric adrenocortical tumors, and ultimately to better treatment, researchers have mapped the "genomic landscape" of these rare childhood tumors. Their genomic mapping has revealed unprecedented details, not only of the aberrant genetic and chromosomal changes that drive the cancer, but the sequence of those changes that trigger it. [More]
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