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News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… This change can alter the amino acid added to the encoded protein . These are called “missense” mutations. … very special time. … The RIPK1 gene encodes for the RIPK1 protein, which is involved in the body’s response to … initiate inflammation and cell death in all cells, another protein “cuts” the RIPK1 protein at a specific location in …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… and amyloidosis. Amyloidosis occurs when a particular protein, called amyloid, builds up in various tissues of the … This gene provides the instructions (codes) for creating a protein, called pyrin (also known as marenostrin), which is … in rheumatic diseases, such as FMF. Elevated C-reactive protein, which is a special type of protein, produced by the …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… where proteins are made. "We know a great deal about the protein-coding genes and what they do," said Mike Pazin, … of associated variants found in GWAS are outside of the protein-coding areas. Eventually, we want to understand … Institute for Biotechnology, Huntsville, Alabama; $1.9 million, three years (supported by the National Cancer …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… genome, and make predictions about which variants in non-protein-coding genomic regions affect disease susceptibility and response to drugs. Non-protein-coding regions do not contain genes that provide … regions are harder to interpret than variants in the protein-coding regions of genes, which we know much more …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… people with the disorder have an overactive version of a protein called STAT4, which regulates inflammation and wound … targets an important feedback loop controlled by the STAT4 protein and significantly improves symptoms in these … in the STAT4 gene. The STAT4 gene encodes a type of protein that helps turn genes on and off, known as a …
Staff
Dr. Sharon Milgram is an adjunct investigator in the Genetics and Molecular Biology Branch at the National Human Genome Research Institute.
… Dr. Milgram studies cell signaling and protein trafficking in polarized cells, including kidney and … by estrogen of ezrin and ezrin/radixin/moesin-binding protein 50. Endocrine , 22:119-126. 2003. [ PubMed ] Barnes … S, Mager S. The GABA transporter GAT1 and the MUGUK protein PALS1: interaction, uptake modulation and …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… of DNA that carries the instructions for making a specific protein or set of proteins. Each of the estimated 20,000 to … called amino acids in the right order to form a specific protein. Proteins make up body structures like organs and … between cells. If a cell's DNA is mutated, an abnormal protein may be produced, which can disrupt the body's usual …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… or all of their nutrition from a special mix of natural protein and MMA medical foods delivered through feeding tubes. Medical foods for MMA do not contain intact protein. They contain free amino acids with the exception of … NHGRI researchers found that when patients on restricted protein diets were given medical foods used to manage MMA, …
News Release
Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas Network have found.
… platforms including DNA sequencing, RNA sequencing, and protein arrays. Tumors in the first group, which represented 9 percent of the tumors, were positive for Epstein-Barr virus … in the PIK3CA gene, which codes for a component of a protein, PI3-kinase, which is essential for cell growth and …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… Significant progress has been made in characterizing protein-coding genes, which comprise less than 2% of the … help explain how variations in DNA sequences outside of protein-coding regions can influence the expression of genes, … new data types, such as long-range DNA interactions and protein-RNA interactions." As a new feature, ENCODE 3 …