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Flashcards in Basic Science Deck (96)
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1

Describe the key transcription factors for cell signaling

SOX9-Cartilage

Mohawk-MKK-tendon

SATB2 osteoblasts

2

what is the CREST syndrome anti-body?

3

what is the basic science background regarding scleroderma?

4

How does the mechanism of Rifampin affect Gene transcription?

Binds to mRNA, which is the first step in gene transcription

5

what is the 16s ribosomal RNA

6

what is a gene?

Codon?

Exon?

Intron?

7

what is the relationship between systemic lupus and SNRMPS?

8

what is the relationship between fascioscapohumeral muscular dystropy?

Activated junk DNA

 

Bilateral winging

inability to whistle

9

Define Genotype, phenotype, karyotype

10

what are the two types of mutations?

1. Suppressor Gene

2. Activating mutation

Fibrous Dysplasia/Mccune-Albright

11

Describe the basic science behind Fibrous Dysplasia:

Activation mutation of GNAS1

causing sustained adenylate cyclase causing increase cAMP.

post zygotic somatic mutation

12

what is mosaicism and give clinical examples

two genotypes in the same organism

 

13

what is the basic science behind neurofibromatosis?

mutation in a supressor gene

turns off neurofibromin

14

Describe the difference between the two types of diseases with cafe-au-lait spots?

15

What is a mendelian disorder?

a single gene disorder

16

List the autosomal dominant structural protein disorder diseases:

17

List of autosomal recessive enzymatic gene defect diseases

18

List of x-linked recessive gene disorders

19

What is an x-linked dominant disease, and give an example of it:

20

what is the carter effect?

21

what are down syndrome ortho issues?

22

what is unlucky thirteen and its relationship to multiple myeloma?

23

Multiple myeloma equals round delections.....

 

why?

24

what is the the chromosomal deletion for prader-willi syndrome and what is it relationship to maternal imprinting?

25

Describe in more detail Genetic imprinting:

26

what is the chromosomal translocation for Ewing's Sarcoma?

27

what are the ortho examples of chromosomal translocations?

28

where do the mesenchymal stem cells originate from?

29

what are the cell-cell proteins involved in limb formation?

30

Characterize the BMP protein