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ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.
Barnada SM, Giner de Gracia A, Morenilla-Palao C, López-Cascales MT, Scopa C, Waltrich FJ Jr, Mikkers HMM, Cicardi ME, Karlin J, Trotti D, Peterson KA, Brugmann SA, Santen GWE, McMahon SB, Herrera E, Trizzino M. Barnada SM, et al. Among authors: brugmann sa. Am J Hum Genet. 2024 Oct 3;111(10):2232-2252. doi: 10.1016/j.ajhg.2024.07.022. Epub 2024 Sep 2. Am J Hum Genet. 2024. PMID: 39226899 Free PMC article.
Variants in BAF subunits cause Coffin-Siris syndrome (CSS), a congenital disorder characterized by coarse craniofacial features and intellectual disability. Approximately 50% of individuals with CSS harbor variants in one of the mutually exclusive BAF subunits, ARID1A/ARID …
Variants in BAF subunits cause Coffin-Siris syndrome (CSS), a congenital disorder characterized by coarse craniofacial features and i …
Genetic Analysis and Functional Assessment of a TGFBR2 Variant in Micrognathia and Cleft Palate.
Michaels JR, Husami A, Vontell AM, Brugmann SA, Stottmann RW. Michaels JR, et al. Among authors: brugmann sa. bioRxiv [Preprint]. 2024 Apr 11:2024.04.08.588524. doi: 10.1101/2024.04.08.588524. bioRxiv. 2024. PMID: 38645005 Free PMC article. Preprint.
Surprisingly, Tgfbr2(V387M) mice did not exhibit craniofacial anomalies or have reduced survival suggesting this is, in fact, not a causal variant for cleft palate/ micrognathia. ...We expect these findings will aid in interpretation of future variants seen in TGFBR2 from …
Surprisingly, Tgfbr2(V387M) mice did not exhibit craniofacial anomalies or have reduced survival suggesting this is, in fact, not a c …
The society for craniofacial genetics and developmental biology 46th annual meeting.
Brugmann SA, Clouthier DE, Fantauzzo KA, Harris MP, Jeong J, Saint-Jeannet JP, Stottmann RW, Merrill AE. Brugmann SA, et al. Am J Med Genet A. 2024 Aug;194(8):e63615. doi: 10.1002/ajmg.a.63615. Epub 2024 Apr 2. Am J Med Genet A. 2024. PMID: 38563316
The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 46th Annual Meeting at Cincinnati Children's Hospital Medical Center in Cincinnati, Ohio on October 10th-12th, 2023. ...Sally Moody and Justin Cotney were each honored with the SCGDB Distingui …
The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 46th Annual Meeting at Cincinnati Children's Hospita …
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.
Wilderman A, D'haene E, Baetens M, Yankee TN, Winchester EW, Glidden N, Roets E, Van Dorpe J, Janssens S, Miller DE, Galey M, Brown KM, Stottmann RW, Vergult S, Weaver KN, Brugmann SA, Cox TC, Cotney J. Wilderman A, et al. Among authors: brugmann sa. Nat Commun. 2024 Jan 2;15(1):136. doi: 10.1038/s41467-023-44506-2. Nat Commun. 2024. PMID: 38167838 Free PMC article.
Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. ...In this study we identified superenhance …
Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require …
The widely used Ucp1-CreEvdr transgene elicits complex developmental and metabolic phenotypes.
Halurkar MS, Inoue O, Mukherjee R, Paese CLB, Duszynski M, Brugmann SA, Lim HW, Sanchez-Gurmaches J. Halurkar MS, et al. Among authors: brugmann sa. bioRxiv [Preprint]. 2023 Oct 20:2023.10.20.563165. doi: 10.1101/2023.10.20.563165. bioRxiv. 2023. PMID: 37904917 Free PMC article. Preprint.
Ucp1-Cre(Evdr) homozygotes also show high mortality, growth defects, and craniofacial abnormalities. Mapping the transgene insertion site revealed insertion in chromosome 1 accompanied by large genomic alterations disrupting several genes expressed in a range of tissues. . …
Ucp1-Cre(Evdr) homozygotes also show high mortality, growth defects, and craniofacial abnormalities. Mapping the transgene insertion …
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.
The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting.
Brugmann SA, Merrill AE, Saint-Jeannet JP, Stottmann RW, Clouthier DE. Brugmann SA, et al. Am J Med Genet A. 2022 Jul;188(7):2258-2266. doi: 10.1002/ajmg.a.62731. Epub 2022 Mar 29. Am J Med Genet A. 2022. PMID: 35352468
The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 44th Annual Meeting in a virtual format on October 18-19, 2021. The SCGDB meeting included presentation of the SCGDB Distinguished Scientists in Craniofacial Research Awards to Drs. Pau …
The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 44th Annual Meeting in a virtual format on October 1 …
Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders.
Pagliaroli L, Porazzi P, Curtis AT, Scopa C, Mikkers HMM, Freund C, Daxinger L, Deliard S, Welsh SA, Offley S, Ott CA, Calabretta B, Brugmann SA, Santen GWE, Trizzino M. Pagliaroli L, et al. Among authors: brugmann sa. Nat Commun. 2021 Nov 9;12(1):6469. doi: 10.1038/s41467-021-26810-x. Nat Commun. 2021. PMID: 34753942 Free PMC article.
De novo ARID1B haploinsufficient mutations cause neurodevelopmental disorders, including Coffin-Siris syndrome, which is characterized by neurological and craniofacial features. Here, we leveraged ARID1B(+/-) Coffin-Siris patient-derived iPSCs and modeled cranial neural cr …
De novo ARID1B haploinsufficient mutations cause neurodevelopmental disorders, including Coffin-Siris syndrome, which is characterized by ne …
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.
Additional analyses of a conditional allelic series targeting C-terminal PKC-C2 domains or the N-terminal C2CD3N-C2 domain of C2cd3 revealed a variable degree of phenotypic severity, suggesting that while the N-terminal C2CD3N-C2 domain was critical for early embryonic developmen …
Additional analyses of a conditional allelic series targeting C-terminal PKC-C2 domains or the N-terminal C2CD3N-C2 domain of C2cd3 revealed …
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.
In addition to the well-known and previously reported limb and craniofacial malformations, we observed dorsal-ventral patterning defects in the neural tube, and a shortened gastrointestinal tract. ...
In addition to the well-known and previously reported limb and craniofacial malformations, we observed dorsal-ventral patterning defe …
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.
BACKGROUND: The naturally occurring chicken mutant talpid(2) (ta(2) ), best known for its limb and craniofacial defects, has long served as a valuable tool for developmental biologists studying growth and patterning of craniofacial structures and the limb. ...
BACKGROUND: The naturally occurring chicken mutant talpid(2) (ta(2) ), best known for its limb and craniofacial defects, has long ser …
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.
Approximately 30% of ciliopathies are characterized by craniofacial phenotypes such as craniosynostosis, cleft lip/palate and micrognathia. Patients with ciliopathic micrognathia experience a particular set of difficulties, including impaired feeding and breathing, and hav …
Approximately 30% of ciliopathies are characterized by craniofacial phenotypes such as craniosynostosis, cleft lip/palate and microgn …
Gli3 utilizes Hand2 to synergistically regulate tissue-specific transcriptional networks.
Elliott KH, Chen X, Salomone J, Chaturvedi P, Schultz PA, Balchand SK, Servetas JD, Zuniga A, Zeller R, Gebelein B, Weirauch MT, Peterson KA, Brugmann SA. Elliott KH, et al. Among authors: brugmann sa. Elife. 2020 Oct 2;9:e56450. doi: 10.7554/eLife.56450. Elife. 2020. PMID: 33006313 Free PMC article.
Despite a common understanding that Gli TFs are utilized to convey a Hh morphogen gradient, genetic analyses suggest craniofacial development does not completely fit this paradigm. Using the mouse model (Mus musculus), we demonstrated that rather than being driven by a Hh …
Despite a common understanding that Gli TFs are utilized to convey a Hh morphogen gradient, genetic analyses suggest craniofacial dev …
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.
Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm. ...Together, these data suggest specific spatiotemporal roles for intraflagellar t …
Development of the craniofacial complex is an intricate process that requires interactions between several different tissues includin …
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. ...
Ciliopathies commonly result in defective development of the craniofacial complex, causing midfacial defects, craniosynostosis, micro …
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. The link between the cilium and the face has proven significan …
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.
Ciliopathies represent a broad class of disorders that affect multiple organ systems. The craniofacial complex is among those most severely affected when primary cilia are not functional. ...Furthermore, these studies suggest a novel role for GLI2R in craniofacial d …
Ciliopathies represent a broad class of disorders that affect multiple organ systems. The craniofacial complex is among those most se …
Understanding Mechanisms of GLI-Mediated Transcription during Craniofacial Development and Disease Using the Ciliopathic Mutant, talpid(2).
Chang YT, Chaturvedi P, Schock EN, Brugmann SA. Chang YT, et al. Among authors: brugmann sa. Front Physiol. 2016 Oct 17;7:468. doi: 10.3389/fphys.2016.00468. eCollection 2016. Front Physiol. 2016. PMID: 27799912 Free PMC article.
The frequency and severity of craniofacial phenotypes in ciliopathies emphasizes the importance of the cilium during development of the craniofacial complex. ...These observations suggest that the craniofacial phenotypes of ciliary mutants like ta(2) are caus …
The frequency and severity of craniofacial phenotypes in ciliopathies emphasizes the importance of the cilium during development of t …
Utilizing the chicken as an animal model for human craniofacial ciliopathies.
Schock EN, Chang CF, Youngworth IA, Davey MG, Delany ME, Brugmann SA. Schock EN, et al. Among authors: brugmann sa. Dev Biol. 2016 Jul 15;415(2):326-337. doi: 10.1016/j.ydbio.2015.10.024. Epub 2015 Oct 24. Dev Biol. 2016. PMID: 26597494 Free PMC article. Review.
Several naturally occurring mutant lines with craniofacial anomalies also exist and have been heavily utilized by developmental biologist for several decades. ...Excitingly, both of these mutants have been classified as models for human craniofacial ciliopathies: Or …
Several naturally occurring mutant lines with craniofacial anomalies also exist and have been heavily utilized by developmental biolo …
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.
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. ...Our data suggest that, although the talpid(2) and talpid(3) mutations affect a common ciliogenesis pathway, they are c …
We set out to determine the etiology of the craniofacial phenotype of this mutant. We confirmed that primary cilia were disrupted in …
Epigenomic annotation of enhancers predicts transcriptional regulators of human neural crest.
Rada-Iglesias A, Bajpai R, Prescott S, Brugmann SA, Swigut T, Wysocka J. Rada-Iglesias A, et al. Among authors: brugmann sa. Cell Stem Cell. 2012 Nov 2;11(5):633-48. doi: 10.1016/j.stem.2012.07.006. Epub 2012 Sep 13. Cell Stem Cell. 2012. PMID: 22981823 Free PMC article.
Our results provide global insights into human NC chromatin landscapes and a rich resource for studies of craniofacial development and disease....
Our results provide global insights into human NC chromatin landscapes and a rich resource for studies of craniofacial development an …
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.
Indian hedgehog (Ihh) has been shown to be associated with craniofacial development and to be active in the palatine bone. The authors hypothesize that Indian hedgehog activity plays a role in osteogenesis within the secondary palate and that defects in this pathway may in …
Indian hedgehog (Ihh) has been shown to be associated with craniofacial development and to be active in the palatine bone. The author …
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.
Recently, interest has grown in these syndromes, particularly among craniofacial biologists, as many known and putative ciliopathies have severe craniofacial defects. Herein we discuss the current understanding of ciliary biology and craniofacial development …
Recently, interest has grown in these syndromes, particularly among craniofacial biologists, as many known and putative ciliopathies …
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.
Craniofacial anomalies are some of the most variable and common defects affecting the population. ...Based on the frequent appearance of craniofacial phenotypes in diseases born from defective primary cilia (ciliopathies) we propose a new class of craniofacial …
Craniofacial anomalies are some of the most variable and common defects affecting the population. ...Based on the frequent appearance …
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.
Comparative gene expression analysis of avian embryonic facial structures reveals new candidates for human craniofacial disorders.
Brugmann SA, Powder KE, Young NM, Goodnough LH, Hahn SM, James AW, Helms JA, Lovett M. Brugmann SA, et al. Hum Mol Genet. 2010 Mar 1;19(5):920-30. doi: 10.1093/hmg/ddp559. Epub 2009 Dec 16. Hum Mol Genet. 2010. PMID: 20015954 Free PMC article.
Twenty-two of these genes, including Fgfr2, Jagged2, Msx2, Satb2 and Tgfb3, have been previously implicated in a variety of mammalian craniofacial defects. Seventy-two of the differentially expressed genes overlap with un-cloned loci for human craniofacial disorders …
Twenty-two of these genes, including Fgfr2, Jagged2, Msx2, Satb2 and Tgfb3, have been previously implicated in a variety of mammalian cra …
The origins of species-specific facial morphology: the proof is in the pigeon.
Helms JA, Brugmann SA. Helms JA, et al. Among authors: brugmann sa. Integr Comp Biol. 2007 Sep;47(3):338-42. doi: 10.1093/icb/icm051. Epub 2007 Jun 22. Integr Comp Biol. 2007. PMID: 21672843
Our research interests center around exploiting the unique properties of domesticated pigeons to gain critical insights into the molecular and cellular basis for craniofacial variation....
Our research interests center around exploiting the unique properties of domesticated pigeons to gain critical insights into the molecular a …
Stage-dependent craniofacial defects resulting from Sprouty2 overexpression.
Goodnough LH, Brugmann SA, Hu D, Helms JA. Goodnough LH, et al. Among authors: brugmann sa. Dev Dyn. 2007 Jul;236(7):1918-28. doi: 10.1002/dvdy.21195. Dev Dyn. 2007. PMID: 17576140 Free article.
Although mice carrying null mutations in Sprouty genes exhibit craniofacial anomalies, the precise role of these regulatory proteins in facial development remains unclear. Here, we show that overexpression of spry2 at the initiation of craniofacial development resul …
Although mice carrying null mutations in Sprouty genes exhibit craniofacial anomalies, the precise role of these regulatory proteins …
Looking different: understanding diversity in facial form.
Brugmann SA, Kim J, Helms JA. Brugmann SA, et al. Am J Med Genet A. 2006 Dec 1;140(23):2521-9. doi: 10.1002/ajmg.a.31361. Am J Med Genet A. 2006. PMID: 16838331
Our primary goal is to elucidate the molecular origins of species-specific craniofacial morphogenesis. We examined one facial primordia, the frontonasal prominence, of phylogenetically related (chick vs. quail vs. duck) and distant (mouse vs. chick) embryos and asked how s …
Our primary goal is to elucidate the molecular origins of species-specific craniofacial morphogenesis. We examined one facial primord …
The molecular origins of species-specific facial pattern.
Brugmann SA, Tapadia MD, Helms JA. Brugmann SA, et al. Curr Top Dev Biol. 2006;73:1-42. doi: 10.1016/S0070-2153(05)73001-5. Curr Top Dev Biol. 2006. PMID: 16782454 Review.
The prevailing approach within the field of craniofacial development is focused on finding a balance between tissues (e.g., facial epithelia, neuroectoderm, and neural crest) and molecules (e.g., bone morphogenetic proteins, fibroblast growth factors, Wnts) that play a rol …
The prevailing approach within the field of craniofacial development is focused on finding a balance between tissues (e.g., facial ep …