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News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… Ph.D. … Study shows mutations in inflammation-related genes are associated with PFAPA syndrome … Researchers at the … fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA … single gene, they considered the possibility that multiple genes are involved. During her clinical fellowship at …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … … from the contributions of multiple genomic variants and genes in conjunction with significant influences of the …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… transmitted from parent to child is linked to one or more genes and provides clues about which chromosome contains the … to develop new, better and cheaper tools to identify new genes and to understand their function. One of these tools is … transmitted from parent to child is linked to one or more genes. Mapping also provides clues about which chromosome …
Educational Resources
Transcription is the process of making an RNA copy of a gene sequence.
Educational Resources
Codominance is a relationship between two versions of a gene.
… is a relationship between two versions of a gene. … Genes, Alleles, Recessive, Dominant, Family Health History, …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
Educational Resources
An exon is the portion of a gene that codes for amino acids.
… amino acids. … Intron, DNA Sequence, DNA Expression, RNA, Genes, Genetic Code … An exon is a region of the genome that … for making a protein, whereas others are non-coding. Genes in the genome consist of exons and introns. … An exon …
Educational Resources
Sex linked is a trait in which a gene is located on a sex chromosome.
… to characteristics (or traits) that are influenced by genes carried on the sex chromosomes. In humans, the term often refers to traits or disorders influenced by genes on the X chromosome, as it contains many more genes than the smaller Y chromosome. Males, who have only a …
Policy Issues
Scientific institutions are developing recommendations to support the responsible use of human gene-editing research.
… and clinical research involving recombinant DNA (in which genes from different sources are combined). On June 21-22, … For instance: NHGRI's Embryonic Stem Cell and Transgenic Mouse Core uses CRISPR to generate laboratory mice with … researchers take advantage of this resource. The Knockout Mouse Project (KOMP) is an National Institutes of Health …