Gda

Front 1

FGFR

Back 1

- Plays an important role in the skeletogenesis of long bones and calvarial suture.
- Causes craniosynostosis

Front 2

- An example of FGFR2 disorder is

Back 2

o Crouzan syndrome
 Upper dental arch is narrowed and retruded.
 Skull is soft
 The eyes are two far apart
 Ears have failed to come up

Front 3

o Another FGFR2 disorder is

Back 3

 Alpert’s Syndrome
• Nasion is underdeveloped, the ears have failed to come up.
• Thumb is broad and apoptosis did not occur between fingers
o Resulting webbed fingers.

Front 4

- FGFR facilitates

Back 4

o Proliferation/apoptosis

Front 5

Twist (named after the dorosphoila mutant in which a twisted larve is caused by gastrulation defects and a lack of mesoderm).

Back 5

- Basic helix-loop-helix transcription factor expressed in neural crest cells.
- Twist1 loss of unction mutations causes
o Saethre-Chotzen syndrome, which causes
 Craniocynostosis.

Front 6

Ephrin B1 (EFNB1) regulated Cell/cell interactions during

Back 6

- Patterning hindbrain segmentation and skeletal formation
- Ephrin is expressed in complementary to Eph, since interactions cause repulsion at the suture lines to create boundaries.
- Binding initiates a bi-directional signaling cascade necessary for sorting.

Front 7

- Loss of function mutations of ephrin B1?

Back 7

o X-linked craniofrontonasal dysplaia
o Females have frontonsal dysplasia, craniofacial asymmetry, craniosynostosis and bifid nasal tip.
o Males only have hyeprtelorism (DUE TO THE x INACTIVATION).

Front 8

MSX 2 is a homeodomain transcription factor expressed in

Back 8

- It is directly regulated by bone morphogenic proteins
- It represses
o Osteoblast differentiation.
o Increased function of MSX2 function leads to
 Craniosynostosis

Front 9

RUNX2 is

Back 9

- Transcriptional regulator of
o Osteoblast differentiation (bone matrix proteins)
o It is essential for the commitment of multipotent mesenchymal cells in neural crest cells into osteoblast lineate.
o A loss of function mutation in Runt class transcription factor causes
 Cleido cranial dysplasia

Front 10

TCOF-1 is a

Back 10

- Regulator of ribosome biogenesis required for neural crest cell generation and proliferation.
- Loss of function leads to treacher Collins syndrome
o Due to decreased in proliferation and increased in apoptosis of neaural cres cell.

Front 11

Sonic Hedgehod (SHH) is a secreted growth factor expressed in pharyngeal arch epithelium.

Back 11

Loss of function mutation cause holoprosencephaly, with defects raning from mild to moderate to severe

Front 12

MSX1

Back 12

homoedomain transcription factor expressed in neural crest cells.
Loss of function mutations result in - nonsyncromic cleft lip palate
- tooth agenisis.