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Identification of a heterogeneous and dynamic ciliome during embryonic development and cell differentiation.
Elliott KH, Balchand SK, Bonatto Paese CL, Chang CF, Yang Y, Brown KM, Rasicci DT, He H, Thorner K, Chaturvedi P, Murray SA, Chen J, Porollo A, Peterson KA, Brugmann SA. Elliott KH, et al. Among authors: brugmann sa. Development. 2023 Apr 15;150(8):dev201237. doi: 10.1242/dev.201237. Epub 2023 Apr 27. Development. 2023. PMID: 36971348 Free PMC article.
Primary cilia are nearly ubiquitous organelles that transduce molecular and mechanical signals. ...The biological relevance of ciliary heterogeneity was functionally validated by using Cas9 gene-editing to disrupt ciliary genes that displayed dynamic gene expression profil …
Primary cilia are nearly ubiquitous organelles that transduce molecular and mechanical signals. ...The biological relevance of ciliar …
Centriolar Protein C2cd3 Is Required for Craniofacial Development.
Chang CF, Brown KM, Yang Y, Brugmann SA. Chang CF, et al. Among authors: brugmann sa. Front Cell Dev Biol. 2021 Jun 15;9:647391. doi: 10.3389/fcell.2021.647391. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34211969 Free PMC article.
The primary cilium is a ubiquitous, microtubule-based cellular organelle. Primary cilia dysfunction results in a group of disorders termed ciliopathies. ...
The primary cilium is a ubiquitous, microtubule-based cellular organelle. Primary cilia dysfunction results in a group of disorders t …
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 ciliopathie …
Primary cilia are ubiquitous microtubule-based organelles that serve as signaling hubs for numerous developmental pathways, most nota …
Atavisms in the avian hindlimb and early developmental polarity of the limb.
Bonatto Paese CL, Hawkins MB, Brugmann SA, Harris MP. Bonatto Paese CL, et al. Among authors: brugmann sa. Dev Dyn. 2021 Sep;250(9):1358-1367. doi: 10.1002/dvdy.318. Epub 2021 Mar 1. Dev Dyn. 2021. PMID: 33605505 Free PMC article.
CONCLUSION: As the ta(2) phenotype arises as a result of mutation in C2CD3 and disrupted cilia function, this mutant provides genetic and developmental insight into the causes of asymmetry in the limb and also a model for the evolution of the avian hindlimb....
CONCLUSION: As the ta(2) phenotype arises as a result of mutation in C2CD3 and disrupted cilia function, this mutant provides genetic …
Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling.
Bonatto Paese CL, Brooks EC, Aarnio-Peterson M, Brugmann SA. Bonatto Paese CL, et al. Among authors: brugmann sa. Development. 2021 Feb 15;148(4):dev194175. doi: 10.1242/dev.194175. Development. 2021. PMID: 33589509 Free PMC article.
Ciliopathies represent a growing class of diseases caused by defects in microtubule-based organelles called primary cilia. Approximately 30% of ciliopathies are characterized by craniofacial phenotypes such as craniosynostosis, cleft lip/palate and micrognathia. ...
Ciliopathies represent a growing class of diseases caused by defects in microtubule-based organelles called primary cilia. Approximat …
Sending mixed signals: Cilia-dependent signaling during development and disease.
Elliott KH, Brugmann SA. Elliott KH, et al. Among authors: brugmann sa. Dev Biol. 2019 Mar 1;447(1):28-41. doi: 10.1016/j.ydbio.2018.03.007. Epub 2018 Mar 13. Dev Biol. 2019. PMID: 29548942 Free PMC article. Review.
The mechanisms by which a cell can receive and transduce these signals into measurable actions remains a 'black box' in developmental biology. Primary cilia are ubiquitous, microtubule-based organelles that dynamically extend from a cell to receive and process molecular an …
The mechanisms by which a cell can receive and transduce these signals into measurable actions remains a 'black box' in developmental biolog …
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.
RESULTS: Using the Kif3a(f/f) ;Wnt1-Cre ciliopathic mouse model to prevent Shh signal transduction by means of the loss of primary cilia in neural crest cells, we report that mesenchymal Shh activity is necessary for gland development. ...
RESULTS: Using the Kif3a(f/f) ;Wnt1-Cre ciliopathic mouse model to prevent Shh signal transduction by means of the loss of primary cilia …
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.
We utilized the conditional ciliary mutant Wnt1-Cre;Kif3a(fl/fl) to demonstrate that loss of primary cilia on NCCs resulted in a widened ventral forebrain. We found that neuroectodermal Shh expression, dorsal/ventral patterning, and amount of proliferation in the ventral n …
We utilized the conditional ciliary mutant Wnt1-Cre;Kif3a(fl/fl) to demonstrate that loss of primary cilia on NCCs resulted in a wide …
A tissue-specific role for intraflagellar transport genes during craniofacial development.
Schock EN, Struve JN, Chang CF, Williams TJ, Snedeker J, Attia AC, Stottmann RW, Brugmann SA. Schock EN, et al. Among authors: brugmann sa. PLoS One. 2017 Mar 27;12(3):e0174206. doi: 10.1371/journal.pone.0174206. eCollection 2017. PLoS One. 2017. PMID: 28346501 Free PMC article.
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. ...Furthermore, analysis of basic cellular behaviors in these mutants suggests that loss of primary cilia in a distinct tissue has unique effec …
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. ...Further …
Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development.
Snedeker J, Schock EN, Struve JN, Chang CF, Cionni M, Tran PV, Brugmann SA, Stottmann RW. Snedeker J, et al. Among authors: brugmann sa. PLoS One. 2017 Mar 14;12(3):e0173258. doi: 10.1371/journal.pone.0173258. eCollection 2017. PLoS One. 2017. PMID: 28291836 Free PMC article.
Primary cilia are organelles extended from virtually all cells and are required for the proper regulation of a number of canonical developmental pathways. ...Secondly, some of the most striking phenotypes are from ablations in the neural crest cells and the adjacent surfac …
Primary cilia are organelles extended from virtually all cells and are required for the proper regulation of a number of canonical de …
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.
Ciliopathies commonly result in defective development of the craniofacial complex, causing midfacial defects, craniosynostosis, micrognathia and aglossia. Herein, we explored how the conditional loss of primary cilia on neural crest cells (Kif3a(f/f);Wnt1-Cre) generated ag …
Ciliopathies commonly result in defective development of the craniofacial complex, causing midfacial defects, craniosynostosis, micrognathia …
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.
A significant link between craniofacial malformations and primary cilia arose several years ago with the determination that 30% of ciliopathies could be primarily defined by their craniofacial phenotype. ...
A significant link between craniofacial malformations and primary cilia arose several years ago with the determination that 30% of ci …
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.
The craniofacial complex is among those most severely affected when primary cilia are not functional. We previously reported that loss of primary cilia on cranial neural crest cells, via a conditional knockout of the intraflagellar transport protein KIF3a, resulted …
The craniofacial complex is among those most severely affected when primary cilia are not functional. We previously reported that los …
The ciliary baton: orchestrating neural crest cell development.
Chang CF, Schock EN, Attia AC, Stottmann RW, Brugmann SA. Chang CF, et al. Among authors: brugmann sa. Curr Top Dev Biol. 2015;111:97-134. doi: 10.1016/bs.ctdb.2014.11.004. Epub 2015 Jan 22. Curr Top Dev Biol. 2015. PMID: 25662259 Free PMC article. Review.
Primary cilia are cell surface, microtubule-based organelles that dynamically extend from cells to receive and process molecular and mechanical signaling cues. ...A growing field of data suggests that various tissues utilize and interpret the loss of cilia in differ …
Primary cilia are cell surface, microtubule-based organelles that dynamically extend from cells to receive and process molecular and …
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 set out to determine the etiology of the craniofacial phenotype of this mutant. We confirmed that primary cilia were disrupted in talpid(2) mutants. Molecularly, we found disruptions in Hedgehog signaling. ...
We set out to determine the etiology of the craniofacial phenotype of this mutant. We confirmed that primary cilia were disrupted in …
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. ...
Primary cilia are microtubule-based organelles that serve as hubs for the transduction of various developmental signaling pathways in …
Craniofacial ciliopathies: A new classification for craniofacial disorders.
Brugmann SA, Cordero DR, Helms JA. Brugmann SA, et al. Am J Med Genet A. 2010 Dec;152A(12):2995-3006. doi: 10.1002/ajmg.a.33727. Am J Med Genet A. 2010. PMID: 21108387 Free PMC article. Review.
Herein, we examine a group of craniofacial disorders that are the result of defects in primary cilia; ubiquitous, microtubule-based organelles that transduce molecular signals and facilitate the interactions between the cell and its environment. Based on the frequent appea …
Herein, we examine a group of craniofacial disorders that are the result of defects in primary cilia; ubiquitous, microtubule-based o …
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.
Here, we show that excessive Hedgehog activity, caused by truncating the primary cilia on cranial neural crest cells, causes hypertelorism and frontonasal dysplasia (FND). ...Furthermore, broader domains of Gli1 expression correspond to areas of enhanced neural crest cell …
Here, we show that excessive Hedgehog activity, caused by truncating the primary cilia on cranial neural crest cells, causes hypertel …
Primary cilia: cellular sensors for the skeleton.
Anderson CT, Castillo AB, Brugmann SA, Helms JA, Jacobs CR, Stearns T. Anderson CT, et al. Among authors: brugmann sa. Anat Rec (Hoboken). 2008 Sep;291(9):1074-8. doi: 10.1002/ar.20754. Anat Rec (Hoboken). 2008. PMID: 18727074 Free PMC article.
The primary cilium is a solitary, immotile cilium that is present in almost every mammalian cell type. Primary cilia are thought to function as chemosensors, mechanosensors, or both, depending on cell type, and have been linked to several developmental signaling pathways. …
The primary cilium is a solitary, immotile cilium that is present in almost every mammalian cell type. Primary cilia are thought to f …