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Page 1
Mutation in the Ciliary Protein C2CD3 Reveals Organ-Specific Mechanisms of Hedgehog Signal Transduction in Avian Embryos.
Brooks EC, Bonatto Paese CL, Carroll AH, Struve JN, Nagy N, Brugmann SA. Brooks EC, et al. Among authors: brugmann sa. J Dev Biol. 2021 Mar 25;9(2):12. doi: 10.3390/jdb9020012. J Dev Biol. 2021. PMID: 33805906 Free PMC article.
Primary cilia are ubiquitous microtubule-based organelles that serve as signaling hubs for numerous developmental pathways, most notably the Hedgehog (Hh) pathway. Defects in the structure or function of primary cilia result in a class of diseases called ciliopathies. ...
Primary cilia are ubiquitous microtubule-based organelles that serve as signaling hubs for numerous developmental pathways, most notably the …
A novel role for cilia-dependent sonic hedgehog signaling during submandibular gland development.
Elliott KH, Millington G, Brugmann SA. Elliott KH, et al. Among authors: brugmann sa. Dev Dyn. 2018 Jun;247(6):818-831. doi: 10.1002/dvdy.24627. Epub 2018 Apr 10. Dev Dyn. 2018. PMID: 29532549 Free PMC article.
Understanding the development of the SMG is important for developing therapeutic options for patients with impaired SMG function. Recent studies have suggested Sonic hedgehog (Shh) signaling in the epithelium plays an integral role in SMG development; however, the mechanis …
Understanding the development of the SMG is important for developing therapeutic options for patients with impaired SMG function. Recent stu …
Neural crest cells utilize primary cilia to regulate ventral forebrain morphogenesis via Hedgehog-dependent regulation of oriented cell division.
Schock EN, Brugmann SA. Schock EN, et al. Among authors: brugmann sa. Dev Biol. 2017 Nov 15;431(2):168-178. doi: 10.1016/j.ydbio.2017.09.026. Epub 2017 Sep 21. Dev Biol. 2017. PMID: 28941984 Free PMC article.
Development of the brain directly influences the development of the face via both physical growth and Sonic hedgehog (SHH) activity; however, little is known about how neural crest cells (NCCs), the mesenchymal population that comprise the developing facial prominences, in …
Development of the brain directly influences the development of the face via both physical growth and Sonic hedgehog (SHH) activity; …
Cilia-dependent GLI processing in neural crest cells is required for tongue development.
Millington G, Elliott KH, Chang YT, Chang CF, Dlugosz A, Brugmann SA. Millington G, et al. Among authors: brugmann sa. Dev Biol. 2017 Apr 15;424(2):124-137. doi: 10.1016/j.ydbio.2017.02.021. Epub 2017 Mar 9. Dev Biol. 2017. PMID: 28286175 Free PMC article.
We found that transduction of the Sonic hedgehog (Shh) pathway, rather than other pathways previously implicated in tongue development, was aberrant in Kif3a(f/f);Wnt1-Cre embryos. ...
We found that transduction of the Sonic hedgehog (Shh) pathway, rather than other pathways previously implicated in tongue developmen …
Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies.
Schock EN, Brugmann SA. Schock EN, et al. Among authors: brugmann sa. Cold Spring Harb Perspect Biol. 2017 Sep 1;9(9):a028258. doi: 10.1101/cshperspect.a028258. Cold Spring Harb Perspect Biol. 2017. PMID: 28213462 Free PMC article. Review.
Craniofacial Ciliopathies Reveal Specific Requirements for GLI Proteins during Development of the Facial Midline.
Chang CF, Chang YT, Millington G, Brugmann SA. Chang CF, et al. Among authors: brugmann sa. PLoS Genet. 2016 Nov 1;12(11):e1006351. doi: 10.1371/journal.pgen.1006351. eCollection 2016 Nov. PLoS Genet. 2016. PMID: 27802276 Free PMC article.
We previously reported that loss of primary cilia on cranial neural crest cells, via a conditional knockout of the intraflagellar transport protein KIF3a, resulted in midfacial widening due to a gain of Hedgehog (HH) activity. Here, we examine the molecular mechanism of ho …
We previously reported that loss of primary cilia on cranial neural crest cells, via a conditional knockout of the intraflagellar transport …
The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2.
Chang CF, Schock EN, O'Hare EA, Dodgson J, Cheng HH, Muir WM, Edelmann RE, Delany ME, Brugmann SA. Chang CF, et al. Among authors: brugmann sa. Development. 2014 Aug;141(15):3003-12. doi: 10.1242/dev.105924. Development. 2014. PMID: 25053433 Free PMC article.
We confirmed that primary cilia were disrupted in talpid(2) mutants. Molecularly, we found disruptions in Hedgehog signaling. Post-translational processing of GLI2 and GLI3 was aberrant in the developing facial prominences. ...
We confirmed that primary cilia were disrupted in talpid(2) mutants. Molecularly, we found disruptions in Hedgehog signaling. Post-tr …
Indian hedgehog positively regulates calvarial ossification and modulates bone morphogenetic protein signaling.
Lenton K, James AW, Manu A, Brugmann SA, Birker D, Nelson ER, Leucht P, Helms JA, Longaker MT. Lenton K, et al. Among authors: brugmann sa. Genesis. 2011 Oct;49(10):784-96. doi: 10.1002/dvg.20768. Epub 2011 Aug 24. Genesis. 2011. PMID: 21557453
Much is known regarding the role of Indian hedgehog (Ihh) in endochondral ossification, where Ihh regulates multiple steps of chondrocyte differentiation. ...In conjunction with the newly recognized roles of Hedgehog deregulation in craniosynostosis, our study defin …
Much is known regarding the role of Indian hedgehog (Ihh) in endochondral ossification, where Ihh regulates multiple steps of chondro …
Role of Indian hedgehog signaling in palatal osteogenesis.
Levi B, James AW, Nelson ER, Brugmann SA, Sorkin M, Manu A, Longaker MT. Levi B, et al. Among authors: brugmann sa. Plast Reconstr Surg. 2011 Mar;127(3):1182-1190. doi: 10.1097/PRS.0b013e3182043a07. Plast Reconstr Surg. 2011. PMID: 21364421 Free PMC article.
Contrarily, loss of Indian hedgehog by genetic knockout (Ihh-/-) resulted in decreased secondary palate ossification. CONCLUSIONS: The authors' results suggest a role for hedgehog signaling during palatal ossification. The hedgehog pathway is activated during …
Contrarily, loss of Indian hedgehog by genetic knockout (Ihh-/-) resulted in decreased secondary palate ossification. CONCLUSIONS: Th …
The emerging face of primary cilia.
Zaghloul NA, Brugmann SA. Zaghloul NA, et al. Among authors: brugmann sa. Genesis. 2011 Apr;49(4):231-46. doi: 10.1002/dvg.20728. Epub 2011 Apr 1. Genesis. 2011. PMID: 21305689 Free PMC article. Review.
Primary cilia are microtubule-based organelles that serve as hubs for the transduction of various developmental signaling pathways including Hedgehog, Wnt, FGF, and PDGF. Ciliary dysfunction contributes to a range of disorders, collectively known as the ciliopathies. ...
Primary cilia are microtubule-based organelles that serve as hubs for the transduction of various developmental signaling pathways including …
A primary cilia-dependent etiology for midline facial disorders.
Brugmann SA, Allen NC, James AW, Mekonnen Z, Madan E, Helms JA. Brugmann SA, et al. Hum Mol Genet. 2010 Apr 15;19(8):1577-92. doi: 10.1093/hmg/ddq030. Epub 2010 Jan 27. Hum Mol Genet. 2010. PMID: 20106874 Free PMC article.
When viewed in full, this spectrum ranges from cyclopia and hypotelorism to hypertelorism and facial duplications. Decreased Hedgehog pathway activity causes holoprosencephaly and hypotelorism. Here, we show that excessive Hedgehog activity, caused by truncating the …
When viewed in full, this spectrum ranges from cyclopia and hypotelorism to hypertelorism and facial duplications. Decreased Hedgehog …