Describe the key transcription factors for cell signaling
what is the CREST syndrome anti-body?
what is the basic science background regarding scleroderma?
How does the mechanism of Rifampin affect Gene transcription?
Binds to mRNA, which is the first step in gene transcription
what is the 16s ribosomal RNA
what is a gene?
what is the relationship between systemic lupus and SNRMPS?
what is the relationship between fascioscapohumeral muscular dystropy?
Activated junk DNA
inability to whistle
Define Genotype, phenotype, karyotype
what are the two types of mutations?
1. Suppressor Gene
2. Activating mutation
Describe the basic science behind Fibrous Dysplasia:
Activation mutation of GNAS1
causing sustained adenylate cyclase causing increase cAMP.
post zygotic somatic mutation
what is mosaicism and give clinical examples
two genotypes in the same organism
what is the basic science behind neurofibromatosis?
mutation in a supressor gene
turns off neurofibromin
Describe the difference between the two types of diseases with cafe-au-lait spots?
What is a mendelian disorder?
a single gene disorder
List the autosomal dominant structural protein disorder diseases:
List of autosomal recessive enzymatic gene defect diseases
List of x-linked recessive gene disorders
What is an x-linked dominant disease, and give an example of it:
what is the carter effect?
what are down syndrome ortho issues?
what is unlucky thirteen and its relationship to multiple myeloma?
Multiple myeloma equals round delections.....
what is the the chromosomal deletion for prader-willi syndrome and what is it relationship to maternal imprinting?
Describe in more detail Genetic imprinting:
what is the chromosomal translocation for Ewing's Sarcoma?
what are the ortho examples of chromosomal translocations?
where do the mesenchymal stem cells originate from?
what are the cell-cell proteins involved in limb formation?
Characterize the BMP protein