Why is OMIM used?
As a continuously updated repository of intersecting data on genes and disorders, OMIM offers help to clinicians, students and researchers in unraveling the complex relationship between genes and disease.
What is OMIM and what is the rationale for its presence in the field of bioinformatics?
What is OMIM? Online Mendelian Inheritance in Man (OMIM®) is a continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression.
How do you test for Li-Fraumeni syndrome?
If health care providers or genetic counselors suspect a person has Li-Fraumeni syndrome, diagnostic testing may take place:
- A blood sample is collected.
- DNA is isolated from the cells in the sample, and the TP53 gene is checked for possible mutations using a variety of methods such as DNA sequencing.
What is the orientation of the STAT5A and STAT5B genes?
Ambrosio et al. (2002) determined that the STAT5A and STAT5B genes are in an inverted orientation, with their 5-prime ends about 11 kb apart. Miyoshi et al. (2001) mapped the mouse Stat5b gene to chromosome 11. The promoters of the Stat5a and Stat5b genes are located head to head and are separated by 10 kb.
What does STAT5B stand for?
Signal transducer and activator of transcription 5B is a protein that in humans is encoded by the STAT5B gene. STAT5B orthologs have been identified in most placentals for which complete genome data are available. The protein encoded by this gene is a member of the STAT family of transcription factors.
Why is the STAT5B component of this APLL microspeckled?
Remarkably, the STAT5B component of the chimeric protein was delocalized from the cytoplasm to the nucleus, where it displayed a microspeckled pattern. Therefore, unusual features of this APLL might result from dysregulation of the JAK/STAT5 signal transducing pathways in the leukemic cells of the patient.
How does the binding of GH to the GHR activate STAT pathways?
The binding of GH to the GHR activates signaling cascades that include a number of the STAT pathways.