Although mutations always have a bad reputation, but a large number of mutations in perhaps not harmful; even in the very rare genetic disorder, only in the tens of thousands of genes in one or both mutations will actually caused diseases, and therefore distinguish harmful and beneficial mutation has been the focus of scientific research.
Scientists from Rockefeller University recently in Proceedings of the National Academy of the Sciences magazine published its latest research results, the article in which they developed a new tool designed to help predict whether a given human genes may contain promote disease mutation, the researchers hope the tool can help them a lot of genetic screening to help predict the occurrence of human diseases.
Yuval Itan researchers said, to get the first needle in a haystack also sucked seawater, while filtering out extraneous "noise" on key genes want to study clearly visible; by genomic analysis, the researchers found that 58 percent of rare mutations Located two percent of human genes, and they developed called Gene Damage Index (genetic damage index) tools can help infer, frequently mutated gene in the general population and perhaps less likely to lead to hereditary and the rarity of the disease , because these mutations in healthy individuals will frequently occur.
Such genetic damage index of tools that can help reveal a mutation occurs in the general population in the number of genes, or mutations accumulate damage, while the corresponding record the results may illustrate the importance of a particular gene on a given disease groups, such as cancer, Bangladesh Del's disease, autism and primary immune deficiency and the like. Finally, the researchers said, the use of this new tool you can weed out the 60% non-associated mutations, and genetic damage index tools will also help scientists to more easily obtain a large number of next-generation sequencing data analysis.
2015年12月30日星期三
2015年12月29日星期二
L-Ornithine L-Aspartate
BACKGROUND / AIMS: In the current knowledge of the pathophysiology of hepatic encephalopathy, a reduction of hyperammonemia is the most important evidence for effective treatment. Therefore, the therapeutic efficacy of oral L-ornithine L-aspartate, ammonia detoxification with improved faculties studied in patients with cirrhosis, hyperammonemia and stable, open chronic hepatic encephalopathy and subclinical hepatic encephalopathy in a randomized , double-blind, placebo-controlled clinical trial.
Methods: Oral L-ornithine L-aspartate was administered three times daily at fixed times for 14 consecutive days in a total dose of 18 g per day. The design has been chosen to increase the ammonia can be induced by a protein powder, 0.25 g / kg body weight administered daily to prevent the start of the treatment period. Efficacy variables were: fasting and postprandial ammonia concentration, number connection test time, mental state and qualities of an index of portosystemic encephalopathy. The analyzes were performed on the total population of the study and placebo 32 34 L-ornithine L-aspartate treated patients and the sub-groups of samples in the open air (20 placebo and 23 L-ornithine L-aspartate treaties) on the base and subclinical hepatic encephalopathy (12 placebo and 11 L-ornithine L-aspartate) treated patients.
Results: connection test performance time at (p <0.01) and fasting (p <0.01) and postprandial (p <0.05) showed venous blood ammonia concentrations in the group L-aspartate-L-ornithine treated an improvement relative to placebo. In addition, the mental state level (p <0.05) and the index of portosystemic encephalopathy (p <0.01) significantly improved in group L-aspartate L-ornithine as in the placebo group. Side effects have been observed in placebo patients or L-aspartate-treated L-ornithine.
Calcium-alpha-ketoglutarate
Product name:Calcium-alpha-ketoglutarate
CAS:51828-96-7
Molecular formula:C5H4CaO5•H2O
Molecular weight:327
Product description: Calcium-alpha-ketoglutarate is a mineral calcium in a special form to help normalize concentrations of ordinary calcium in the body. Calcium-alpha-ketoglutarate eliminates excess phosphate in the blood by binding to it and passed into waste. This helps re-establish the balance between calcium and phosphate in your body.
from:http://www.chemicalspharm.com/products/Pharmaceutical-Intermediates/5271/
Sipeimine price
Product name: Sipeimine
CAS: 61825-98-7
Appearance: White Crystal Powder
Application: All our products are for research and lab only. Injecting, eating and other ways are forbidden.
Purity: ≥98%
Molecular Formula: C27H43NO3
Molecular Weight: 429.62
Description: Easily soluble in chloroform, ethyl acetate, soluble in methanol, alcohol, acetone, diethyl ether, insoluble in water and petroleum ether. Spasmolysis.
from:http://www.chemicalspharm.com/products/Pharmaceutical-Intermediates/Sipeimine/
For more, please click:sales@chemicalspharm.com
Akebia saponin D for sale
CAS: 39524-08-8
Appearance: Needle crystal powder
Application: All our products are for research and lab only. Injecting, eating and other ways are forbidden.
Purity: >95% or 98% by HPLC
Molecular Formula: C47H76O18
Molecular Weight: 929.10
Description: 1g soluble in 87ml water, 3ml boiling water, 6ml alcohol, 100ml diethyl ether, 10ml glycerinum and 5ml acetone. Mostly insoluble in benzene, chloroform and petroleum ether. Hemostasis, promote healing of bone lesions, lower uterine contractions, nourishing liver and kiney.
from:http://www.chemicalspharm.com/products/Pharmaceutical-Intermediates/Akebia-saponin-D/
New discoveries or help develop a malaria vaccine
Scientists from the University of Oxford, etc., perhaps to find a new way to target the malaria parasite; now the impact of malaria each year with more than 40 million lives, and most patients are Plasmodium falciparum (Plasmodium falciparum) caused by infection, but life In the area of malaria outbreaks often people will get a special natural state of immunity to help the body resist malaria infection in adulthood, so the discovery of the possibility of a vaccine against malaria means is from the molecular level up to reveal the body's natural immune these special groups reaction process.
When P. falciparum infection and the body hidden in the red blood cells will lead to serious cause of malaria deaths occur, after many studies have shown that the main component of the body's protective immune response against the surface antigen can be directly called variant , while Plasmodium can use this particular antigen inserted into the surface of the infected red blood cells, usually falciparum will use these molecules to control the infected cell so that it can be adhered to the inner wall of the blood vessel supply of organs, if a large number of Plasmodium infection RBC accumulation will lead to the occurrence of cerebral malaria in the brain.
Under normal circumstances falciparum can produce a variety of different variations of manufacturing surface antigen family, the process although these antigenic molecules naturally acquired immunity in malaria incidence and serious plays an important role, and it usually is because it has diversity I do not think the appropriate candidate vaccines; however Looking for specific antibodies to react with the surface antigen of Plasmodium falciparum variant seems to be able to help develop new interventions against malaria.
The researchers noted that this variant surface antigens include PfEMP1, RIFINs and STEVOR molecules, the researchers had focused on the PfEMP1 molecule research studies, but this study they found two individuals carrying the antibody does not recognize PfEMP1, but will RIFINs molecular recognition; at the molecular level, reactive antibodies can be produced by the body's natural process of independent new event to trigger, and migration and insertion of DNA will come through this process occurs in the gene, called LAIR1 of.
When P. falciparum infection and the body hidden in the red blood cells will lead to serious cause of malaria deaths occur, after many studies have shown that the main component of the body's protective immune response against the surface antigen can be directly called variant , while Plasmodium can use this particular antigen inserted into the surface of the infected red blood cells, usually falciparum will use these molecules to control the infected cell so that it can be adhered to the inner wall of the blood vessel supply of organs, if a large number of Plasmodium infection RBC accumulation will lead to the occurrence of cerebral malaria in the brain.
Under normal circumstances falciparum can produce a variety of different variations of manufacturing surface antigen family, the process although these antigenic molecules naturally acquired immunity in malaria incidence and serious plays an important role, and it usually is because it has diversity I do not think the appropriate candidate vaccines; however Looking for specific antibodies to react with the surface antigen of Plasmodium falciparum variant seems to be able to help develop new interventions against malaria.
The researchers noted that this variant surface antigens include PfEMP1, RIFINs and STEVOR molecules, the researchers had focused on the PfEMP1 molecule research studies, but this study they found two individuals carrying the antibody does not recognize PfEMP1, but will RIFINs molecular recognition; at the molecular level, reactive antibodies can be produced by the body's natural process of independent new event to trigger, and migration and insertion of DNA will come through this process occurs in the gene, called LAIR1 of.
Gene mutation screening tool available, will reveal the mystery of genetic disease!
Guided by public opinion, for gene mutation, people always talk about the discoloration. In fact, the vast majority of human genetic mutations are harmless, even in the hereditary disease, which is also due to pathogenic mutations showed only 1-2 genes only. Therefore, how to carry out targeted etiology research, how to distinguish between harmful and harmless gene mutation, it has been a serious challenge facing scientists.
Recently, scientists from Rockefeller University, St. Giles human infectious diseases Genetics Laboratory invented a new type of genetic screening tool Gene Damage Index, used to predict the likelihood of certain human genes causative mutations, to aid researchers screening and pathogenic mutations due to independent information from a large number of genes. Without this aid, the difficulty of screening comparable needle in a haystack, and the results are likely to deviate from the scientific truth. At present, the details of the screening tool has been published in "PNAS" (Proceedings of the National Academy of Sciences) magazine.
Gene Damage Index mainly on a gene mutation rate in the human gene pool, or the "cumulative mutations damage", but also by calculating a gene in a specific disease areas, such as Mendelian diseases, cancer, autism and primary Immunodeficiency Disease contribution to measure its pathogenic significance.
Through genomic analysis, researchers have found that 58% of rare genetic variation is only 2% of human genes detected. St. Giles Laboratory research team used this tool to detect some of the high mutation rate of the gene in healthy volunteers and in patients with genetic, whereby they infer these high mutation rate is not a genetic disease or a rare genetic disease etiology true.
Yuval Itan author of the study, said the use of Gene Damage Index screening tool, we will be able to effectively eliminate 60% of non-correlation between genetic variation and help the next generation of researchers from the vast gene sequences more quickly and effectively identify genes associated with genetic diseases mutation.
Recently, scientists from Rockefeller University, St. Giles human infectious diseases Genetics Laboratory invented a new type of genetic screening tool Gene Damage Index, used to predict the likelihood of certain human genes causative mutations, to aid researchers screening and pathogenic mutations due to independent information from a large number of genes. Without this aid, the difficulty of screening comparable needle in a haystack, and the results are likely to deviate from the scientific truth. At present, the details of the screening tool has been published in "PNAS" (Proceedings of the National Academy of Sciences) magazine.
Gene Damage Index mainly on a gene mutation rate in the human gene pool, or the "cumulative mutations damage", but also by calculating a gene in a specific disease areas, such as Mendelian diseases, cancer, autism and primary Immunodeficiency Disease contribution to measure its pathogenic significance.
Through genomic analysis, researchers have found that 58% of rare genetic variation is only 2% of human genes detected. St. Giles Laboratory research team used this tool to detect some of the high mutation rate of the gene in healthy volunteers and in patients with genetic, whereby they infer these high mutation rate is not a genetic disease or a rare genetic disease etiology true.
Yuval Itan author of the study, said the use of Gene Damage Index screening tool, we will be able to effectively eliminate 60% of non-correlation between genetic variation and help the next generation of researchers from the vast gene sequences more quickly and effectively identify genes associated with genetic diseases mutation.
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