+ All Categories
Home > Documents > Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient...

Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient...

Date post: 30-Mar-2019
Category:
Upload: trinhthuy
View: 219 times
Download: 0 times
Share this document with a friend
38
Bone development and skeletal growth Przemko Tylzanowski [email protected]
Transcript
Page 1: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Bone developmentand

skeletal growth

Przemko Tylzanowski

[email protected]

Page 2: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

http://tolweb.org/tree/

Page 3: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

http://www.hps.cam.ac.uk/people/hopwood/haeckel.pdf

Page 4: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 5: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

5

Page 6: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

6

Page 7: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

7

Page 8: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 9: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

9

Page 10: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 11: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 12: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 13: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 14: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

14

Collagen type II reporter

Page 15: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 16: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Weismann et al. Genetics 2015

Page 17: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 18: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

http://www.scientificamerican.com/slideshow/neurology-neural-cells-brain-in-psychedelic-relief/#9

Livet et al., Nature 2007

Page 19: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Histology

http://www.eurogrow.net/eug/Project+Information/Objectives

Page 20: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Li et al., eLife 2017

Page 21: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 22: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Li et al., FASEB J 2017

Page 23: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 24: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

http://pixgood.com/lateral-plate-mesoderm.html

Page 25: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

wt heterozygote

Human heterozygote

Human mutations in RUNX2 lead to cleidocranial dysplasia (CCD)

Otto et al. Cell, 1997 Mundlos et al. Cell, 1997

Page 26: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 27: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

27Ingo Arndt

Page 28: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Spielman et al. HMG 2016

Page 29: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 30: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

30

Page 31: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Lupianez et al, Cell 2015

Page 32: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Petit et al., NatRevGen 2017

Page 33: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 34: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Spielman et al. AJHG 2012

Liebenberg Syndrome

Page 35: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 36: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication
Page 37: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Ospelt et al, NatRevRheuma. 2017

Page 38: Bone development and skeletal growth - eiseverywhere.com · Brachydactyly Bl patient B2 patient F-syndrome Fl patient F2 patient Polvdactyly cen Il-IH - Inversion Fl - :WNT6 Duplication

Thank you


Recommended