Course in facial development for European Course in Neuroradiology in Tarragona, Spain, on 12 octobre 2008. For questions, e-mail to etchevers at free dot fr. Download to play the animations (especially as some pictures are covered by others)
12. Cephalic neural crest mesectodermal derivatives Support tissues for pituitary , salivary and lachrymal glands Tendons for cephalic muscles dermis adipose tissue cartilage bone periost dura mater pia mater pericytes brain epidermis
22. Tbx1 knockout mouse phenocopies DGS patients Jerome and Papaioannou, 2001 Binding site Target gene RNA, then protein Transcription factor
23. Del22q11.2 – often but not always TBX1 itself: distant regulation from S. Lyonnet Aided and abetted by a polymorphism 1Kb upstream of VEGF ! Stalmans et al., 2003
24. The holoprosencephaly spectrum Wilkie and Morris-Kay, 2001; image from Muenke, M. & Beachy, P. A. in The Metabolic and Molecular Bases of Inherited Disease 8th edn (eds Scriver, C. R. et al .) 6203–6230 (McGraw–Hill, New York, 2001). proboscis Single median incisor No philtrum
25. Cell signaling via hedgehog family after van Tuyl et Post., 2002 Patched Sonic/Indian hedgehog Gli and Zic TF genes cyclopamine
26. Neural crest ablation can phenocopy lack of Shh Normal 8d chicken embryo Neural crest-ablated chicken embryos
27. Primary cilia transduce Sonic hedgehog signaling Rohatgi, R., Milenkovic, L. and Scott, M.P. (2007). Science, 317, 372–376. Photo from PKD group, Mayo Clinic; figure adapted from Kibar et al., Clin Genet 2007 Cilium PK VANGL FZ WNTs INV DVL SCRIB DAAM RHOA JNK FY IN ROCK SHH PTCH Cytoskeletal changes Transcriptional changes PTK7 actins BBS CELSR
28. Midline facial disorders arise from defects in primary cilia Figure 9 from Brugmann et al., Human Molecular Genetics 2010, Vol. 19, No. 8 1577–1592 doi:10.1093/hmg/ddq030 After Wilder
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30. I will make this Powerpoint presentation available and downloadable as of next week on SlideShare, but you also have it available as part of this course. http://www.slideshare.net/Alethea Please comply with fair use (cf Wikipedia if you need to) as the images and photographs are copyrighted by their authors. I will correct any lacunae in attributions if you leave a comment.