http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Autism Spectrum Disorder (ASD) affects about 1 in 100 children resulting in a range of problems in language, communication and understanding other people's emotional cues, all of which can lead to difficulties in social situations. Boys are three to four more times as likely to be affected as girls and consequently it has been suggested that the genes involved in this disorder may be linked to the X chromosome. New research published in BioMed Central's open access journal Molecular Autism used genome wide association study (GWAS) data to find a variation in the gene for transducin ß-like 1X-linked (TBL1X) which is associated with increased risk of ASD in boys. http://medicalxpress.com/news/2011-11-tbl1x-gene-involved-autism.html Diseases, Conditions, Syndromes Fri, 04 Nov 2011 02:50:21 EST news239593656 In a study published today in the journal Nature Genetics, a group of scientists including UNC biologist Jason Lieb, PhD, present experiments supporting a longstanding hypothesis that explains how males can survive with only one copy of the X chromosome. The finding provides clarity to a hotly debated topic in science and provides biologists with more information to interpret experiments involving genetic measurements in males and females. http://medicalxpress.com/news/2011-10-males-females-common-upregulating.html Genetics Mon, 24 Oct 2011 10:48:57 EST news238672120 Geneticists at Emory University School of Medicine have demonstrated a method that enables the routine amplification of all the genes on the X chromosome. The technology allows the rapid and highly accurate sequencing and identification of novel genetic variants affecting X chromosome genes. http://medicalxpress.com/news/2011-10-technology-genetic-disorders-linked-chromosome.html Genetics Tue, 18 Oct 2011 10:26:11 EST news238152358 Genetics play an important role in the variation in, and risk of, low testosterone concentrations in men. A study by the CHARGE Sex Hormone Consortium, published in the open-access journal PLoS Genetics on Thursday, 6th October, is the first genome-wide association study to examine the effects of common genetic variants on serum testosterone concentrations in men. http://medicalxpress.com/news/2011-10-testosterone-men-affected-genetic-makeup.html Genetics Thu, 06 Oct 2011 17:00:01 EST news237129242 As anyone familiar with the phrase 'man-flu' will know women consider themselves to be the more robust side of the species when it comes to health and illness. Now new research, published in BioEssays, seems to support the idea. The research focuses on the role of MicroRNAs encoded on the X chromosome to explain why women have stronger immune systems to men and are less likely to develop cancer. http://medicalxpress.com/news/2011-09-women-stronger-immune-men-chromosome.html Medical research Wed, 28 Sep 2011 03:43:04 EST news236400158 In humans, inherited mutations in a gene called HPRT1 lead to very specific self-destructive behavior. Boys with Lesch-Nyhan disease experience uncontrollable urges to bite their fingers, slam their arms into doorways and otherwise harm themselves. http://medicalxpress.com/news/2011-07-gene-clues-self-injurious-behavior-rare.html Medical research Wed, 27 Jul 2011 17:00:04 EST news231001165 A team of researchers from the University of Utah and Brigham Young University has developed a mouse model of focal dermal hypoplasia, a rare human birth defect that causes serious skin abnormalities and other medical problems. This animal model not only provides insight into studying the cause of focal dermal hypoplasia (FDH), but also offers a novel way to study a signaling pathway that is crucial for embryonic development. http://medicalxpress.com/news/2011-07-animal-rare-genetic-disorder-pathway.html Medical research Wed, 20 Jul 2011 14:13:58 EST news230390023 (Medical Xpress) -- Researchers in the Keck School of Medicine of the University of Southern California (USC), together with scientists in Beijing, China, have discovered a chromosomal mutation responsible for a very rare condition in which people grow excess hair all over their bodies. Investigators hope the finding ultimately will lead to new treatments for this and less severe forms of excessive hair growth as well as baldness. http://medicalxpress.com/news/2011-06-genetic-mutation-excessive-hair-growth.html Genetics Fri, 03 Jun 2011 12:33:26 EST news226323177 (Medical Xpress) -- Excessive noise is not the only thing that causes damage to hearing. In many cases, genetic factors are responsible for the loss of hearing at a young age. Researchers at the Max Planck Institute for Molecular Genetics in Berlin together with colleagues from Nijmegen have discovered a previously unknown genetic cause of progressive hearing impairment: the disease is caused by mutations of the SMPX (small muscle protein) gene, which is located on the X chromosome. It was not previously known that this gene, which is active in the skeletal muscle and heart, also plays a role in hearing. The discovery will make it easier to diagnose progressive hearing impairment and may also provide a starting point for the development of new treatment methods. http://medicalxpress.com/news/2011-05-mutated-muscle-protein-deafness.html Genetics Mon, 30 May 2011 10:27:41 EST news225969946 Researchers have developed an effective technique that uses gene therapy on stem cells to correct chronic granulomatous disease (CGD) in cell culture, which could eventually serve as a treatment for this rare, inherited immune disorder, according to a study published in Blood, the Journal of the American Society of Hematology. http://medicalxpress.com/news/2011-04-gene-therapy-technique-ips-cells.html Medical research Thu, 28 Apr 2011 11:32:02 EST news223209111