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News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… Liaison Branch … In the largest genomics study of clear cell endometrial cancer (CCEC) tumors to date, National Human … survival rate. "Genomic mutations that contribute to clear cell endometrial cancer can vary from one patient to … commonly diagnosed gynecological cancer. Women with clear cell endometrial cancer, a rare type of endometrial cancer, …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… that a transcription factor known as TCF1 (for T cell factor-1) is essential for the creation and persistence … TFH cells then interact with another type of white blood cell - called B cells - that actually produce the antibodies. … TCF1 deficiency causes "a severe defect" in the TFH cell response to viral infection, they concluded. "This …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … X-linked, as related to genetics, refers to …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… target the blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while … the hemoglobin S, your cells will not be fragile or even sickle. As a result, these approaches can decrease the …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves … associated with a hereditary or genetic disorder. … Cell-free DNA testing is a laboratory method that involves … a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used during …
Educational Resources
Sex linked is a trait in which a gene is located on a sex chromosome.
… Sex Linked … Sex linked is a trait in which a gene is located on a sex chromosome. … Cell, Mutation, Gene, Sex Chromosome … Sex-linked, as related … or no symptoms of a sex-linked disorder. … Sex linked is a trait in which a gene is located on a sex chromosome. … …
Fact Sheet
Currently, there are different gene therapy approaches available through clinical trials.
… Hemoglobin types and sickle cell disease  Your red blood cells contain hemoglobin , a … body to instead make hemoglobin A. For individuals with sickle cell disease, a small amount of HbF continues to be …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… of thousands of people with and without a disease or trait are compared to find the chromosomal regions that affect the disease risk or trait. In these regions, usually many variants are statistically associated with the disease or trait, but we do not know which one or few of the variants …
Educational Resources
Apoptosis is the process of programmed cell death.
… Apoptosis … Apoptosis is the process of programmed cell death. … Programmed Cell Death, Development, DNA Repair, Cancer, Tumor, Cell Division … Apoptosis is the process of programmed cell …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… genes. Piwi1-positive spermatogonia are shown in yellow; cell nuclei are in turquoise. Germ cell induction and all stages of gametogenesis can be … Hydractinia . Piwi1-positive oocytes are shown in yellow; cell nuclei are in turquoise. Germ cell induction and all …