Publications
Forman TE, Sajek MP, Larson ED, Mukherjee N, Fantauzzo KA. PDGFRalpha signaling regulates Srsf3 transcript binding to affect PI3K signaling and endosomal trafficking. bioRxiv 2024.04.03.587975.
Brugmann SA, Clouthier DE, Fantauzzo KA, Harris MP, Jeong J, Saint-Jeannet JP, Stottmann RW, Merrill AE. (2024) The society for craniofacial genetics and developmental biology 46th annual meeting. Am J Med Genet:e63615.
Campaña MB, Perkins MR, McCabe MC, Neumann A, Larson ED, Fantauzzo KA. PDGFRalpha/beta heterodimer activation negatively affects downstream ERK1/2 signaling and cellular proliferation. bioRxiv 2023.12.27.573428.
Waugh KA, Minter R, Baxter J, Chi C, Galbraith MD, Tuttle KD, Eduthan NP, Kinning KT, Andrysik Z, Araya P, Dougherty H, Dun LN, Ludwig M, Schade KA, Tracy D, Smith KP, Granrath RE, Busquet N, Khanal S, Anderson RD, Cox LL, Enriquez Estrada B, Rachubinski AL, Lyford HR, Britton EC, Fantauzzo KA, Orlicky DJ, Matsuda JL, Song K, Cox TC, Sullivan KD, Espinosa JM. (2023) Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model. Nat Genet 55:1034-1047.
Micke KC, Elfman HM, Fantauzzo KA, McGrath PS, Clouthier DE, McCandless SE, Larson A, Putra M,
Cuneo BF, Reynolds RM, Zaretsky MV. (2023) Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example. Prenat Diagn 43:544-552.
Rogers MA, Campana MB, Long R, Fantauzzo KA. (2022) PDGFR dimer-specific activation, trafficking and downstream signaling dynamics. J Cell Sci 135:259686.
Rogers MA, Dennison BJC, Fantauzzo KA. (2022) Isolation of Whole Cell Protein Lysates from Mouse Facial Processes and Cultured Palatal Mesenchyme Cells for Phosphoprotein Analysis. J Vis Exp 182:e63834.
Forman TE, Dennison BJC, Fantauzzo KA. (2021) The role of RNA-binding proteins in vertebrate neural crest and craniofacial development. J Dev Biol 9:34.
Dennison BJC, Larson ED, Fu R, Mo J, Fantauzzo KA. (2021) Srsf3 mediates alternative RNA splicing downstream of PDGFRalpha signaling in the facial mesenchyme. Development 148:199448.
Mo J, Long R, Fantauzzo KA. (2020) Pdgfra and Pdgfrb genetically interact in the murine neural crest cell lineage to regulate migration and proliferation. Front Physiol 11:588901.
Rogers MA, Fantauzzo KA. (2020) The emerging complexity of PDGFRs: activation, internalization and signal attenuation. Biochem Soc Trans 48:1167-1176.
Fantauzzo KA*, Soriano P. (2017) Generation of an immortalized mouse embryonic palatal mesenchyme cell line. PLoS One 12:e0179078.
*Corresponding author.
Fantauzzo KA, Soriano P. (2016) PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRα. Genes Dev 30:2443-2458.
Fantauzzo KA*, Soriano P. (2015) Receptor tyrosine kinase signaling: regulating neural crest development one phosphate at a time. In Curr Top Dev Biol, Vol 111, Neural Crest and Placodes (ed. Paul Trainor), pp. 135-182. UK: Academic Press. *Corresponding author.
Fantauzzo KA, Soriano P. (2014) PI3K-mediated PDGFRα signaling regulates survival and proliferation in skeletal development through p53-dependent intracellular pathways. Genes Dev 28:1005-1017.
DeStefano GM, Kurban M, Anyane-Yeboa K, Dall’Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, Lopez-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM. (2014) Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet 10:e1004333.
DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, Christiano AM. (2013) Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proc Natl Acad Sci U S A 110:7790-7795.
Fantauzzo KA, Kurban M, Levy B, Christiano AM. (2012) Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet 8:e1003002.
Fantauzzo KA, Christiano AM. (2012) Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis. Development 139:203-214.
Fantauzzo KA, Christiano AM. (2011) There and back again: hair follicle stem cell dynamics. Cell Stem Cell 8:8-9.
Richardson GD, Bazzi H, Fantauzzo KA, Waters JM, Crawford H, Hynd P, Christiano AM, Jahoda CA. (2009) KGF and EGF signaling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin. Development 136:2153-2164.
Richardson GD, Fantauzzo KA, Bazzi H, Maatta A, Jahoda CA. (2009) Dynamic expression of Syndecan-1 during hair follicle morphogenesis. Gene Expr Patterns 9:454-460.
Fantauzzo KA, Tadin-Strapps M, You Y, Mentzer SE, Baumeister FA, Cianfarani S, Van Maldergem L, Warburton D, Sundberg JP, Christiano AM. (2008) A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet 17:3539-3551.
Fantauzzo KA, Bazzi H, Jahoda CA, Christiano AM. (2008) Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling. Gene Expr Patterns 8:51-57.
Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam JS, Yoon JK, Kelsell DP, Christiano AM. (2008) Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. J Invest Dermatol 128:867-870.
Bazzi H, Fantauzzo KA, Richardson GD, Jahoda CA, Christiano AM. (2007) The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis. Dev Biol 305:498-507.
Bazzi H, Fantauzzo KA, Richardson GD, Jahoda CA, Christiano AM. (2007) Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression. Dev Dyn 236:961-970.
Kingsley PD, Malik J, Fantauzzo KA, Palis J. (2004) Yolk sac-derived primitive erythroblasts enucleate during mammalian embryogenesis. Blood 104:19-25.
Brugmann SA, Clouthier DE, Fantauzzo KA, Harris MP, Jeong J, Saint-Jeannet JP, Stottmann RW, Merrill AE. (2024) The society for craniofacial genetics and developmental biology 46th annual meeting. Am J Med Genet:e63615.
Campaña MB, Perkins MR, McCabe MC, Neumann A, Larson ED, Fantauzzo KA. PDGFRalpha/beta heterodimer activation negatively affects downstream ERK1/2 signaling and cellular proliferation. bioRxiv 2023.12.27.573428.
Waugh KA, Minter R, Baxter J, Chi C, Galbraith MD, Tuttle KD, Eduthan NP, Kinning KT, Andrysik Z, Araya P, Dougherty H, Dun LN, Ludwig M, Schade KA, Tracy D, Smith KP, Granrath RE, Busquet N, Khanal S, Anderson RD, Cox LL, Enriquez Estrada B, Rachubinski AL, Lyford HR, Britton EC, Fantauzzo KA, Orlicky DJ, Matsuda JL, Song K, Cox TC, Sullivan KD, Espinosa JM. (2023) Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model. Nat Genet 55:1034-1047.
Micke KC, Elfman HM, Fantauzzo KA, McGrath PS, Clouthier DE, McCandless SE, Larson A, Putra M,
Cuneo BF, Reynolds RM, Zaretsky MV. (2023) Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example. Prenat Diagn 43:544-552.
Rogers MA, Campana MB, Long R, Fantauzzo KA. (2022) PDGFR dimer-specific activation, trafficking and downstream signaling dynamics. J Cell Sci 135:259686.
Rogers MA, Dennison BJC, Fantauzzo KA. (2022) Isolation of Whole Cell Protein Lysates from Mouse Facial Processes and Cultured Palatal Mesenchyme Cells for Phosphoprotein Analysis. J Vis Exp 182:e63834.
Forman TE, Dennison BJC, Fantauzzo KA. (2021) The role of RNA-binding proteins in vertebrate neural crest and craniofacial development. J Dev Biol 9:34.
Dennison BJC, Larson ED, Fu R, Mo J, Fantauzzo KA. (2021) Srsf3 mediates alternative RNA splicing downstream of PDGFRalpha signaling in the facial mesenchyme. Development 148:199448.
Mo J, Long R, Fantauzzo KA. (2020) Pdgfra and Pdgfrb genetically interact in the murine neural crest cell lineage to regulate migration and proliferation. Front Physiol 11:588901.
Rogers MA, Fantauzzo KA. (2020) The emerging complexity of PDGFRs: activation, internalization and signal attenuation. Biochem Soc Trans 48:1167-1176.
Fantauzzo KA*, Soriano P. (2017) Generation of an immortalized mouse embryonic palatal mesenchyme cell line. PLoS One 12:e0179078.
*Corresponding author.
Fantauzzo KA, Soriano P. (2016) PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRα. Genes Dev 30:2443-2458.
Fantauzzo KA*, Soriano P. (2015) Receptor tyrosine kinase signaling: regulating neural crest development one phosphate at a time. In Curr Top Dev Biol, Vol 111, Neural Crest and Placodes (ed. Paul Trainor), pp. 135-182. UK: Academic Press. *Corresponding author.
Fantauzzo KA, Soriano P. (2014) PI3K-mediated PDGFRα signaling regulates survival and proliferation in skeletal development through p53-dependent intracellular pathways. Genes Dev 28:1005-1017.
DeStefano GM, Kurban M, Anyane-Yeboa K, Dall’Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, Lopez-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM. (2014) Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet 10:e1004333.
DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, Christiano AM. (2013) Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proc Natl Acad Sci U S A 110:7790-7795.
Fantauzzo KA, Kurban M, Levy B, Christiano AM. (2012) Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet 8:e1003002.
Fantauzzo KA, Christiano AM. (2012) Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis. Development 139:203-214.
Fantauzzo KA, Christiano AM. (2011) There and back again: hair follicle stem cell dynamics. Cell Stem Cell 8:8-9.
Richardson GD, Bazzi H, Fantauzzo KA, Waters JM, Crawford H, Hynd P, Christiano AM, Jahoda CA. (2009) KGF and EGF signaling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin. Development 136:2153-2164.
Richardson GD, Fantauzzo KA, Bazzi H, Maatta A, Jahoda CA. (2009) Dynamic expression of Syndecan-1 during hair follicle morphogenesis. Gene Expr Patterns 9:454-460.
Fantauzzo KA, Tadin-Strapps M, You Y, Mentzer SE, Baumeister FA, Cianfarani S, Van Maldergem L, Warburton D, Sundberg JP, Christiano AM. (2008) A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet 17:3539-3551.
Fantauzzo KA, Bazzi H, Jahoda CA, Christiano AM. (2008) Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling. Gene Expr Patterns 8:51-57.
Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam JS, Yoon JK, Kelsell DP, Christiano AM. (2008) Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. J Invest Dermatol 128:867-870.
Bazzi H, Fantauzzo KA, Richardson GD, Jahoda CA, Christiano AM. (2007) The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis. Dev Biol 305:498-507.
Bazzi H, Fantauzzo KA, Richardson GD, Jahoda CA, Christiano AM. (2007) Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression. Dev Dyn 236:961-970.
Kingsley PD, Malik J, Fantauzzo KA, Palis J. (2004) Yolk sac-derived primitive erythroblasts enucleate during mammalian embryogenesis. Blood 104:19-25.
