Irfan Saadi Anatomy and Cell Biology University of Kansas Medical Center Biography Publications Institution JoVE Articles Irfan Saadi Dr. Irfan Saadi has always been interested in understanding the etiology of congenital malformations. He received his B.Sc. (Hon.) and M.Sc. degrees in Biology from McGill University in Montreal, Canada, where he began his research career in Dr. Rima Rozen’s laboratory working on genotype-phenotype correlation in patients with congenital renal disease. He then earned his Ph.D. in Genetics from the University of Iowa in Dr. Andrew Russo’s laboratory studying the molecular consequences of disease-causing mutations in Axenfeld-Rieger syndrome, which primarily affects craniofacial and ocular development. His postdoctoral training at Harvard was in developmental genetic analyses of palate and tooth development with Dr. Richard Maas, a preeminent scholar of craniofacial morphogenesis. Dr. Saadi joined the Department of Anatomy and Cell Biology at the University of Kansas Medical Center in 2011 as an Assistant Professor. He is currently an Associate Professor with Tenure. His research is focused on understanding the molecular mechanisms underlying the dynamics of embryonic morphogenesis and how changes in these dynamics can lead to congenital anomalies of the craniofacial region. Publications SPECC1L-deficient Primary Mouse Embryonic Palatal Mesenchyme Cells Show Speed and Directionality Defects Scientific Reports. Jan, 2021 | Pubmed ID: 33446878 SPECC1L Regulates Palate Development Downstream of IRF6 Human Molecular Genetics. 03, 2020 | Pubmed ID: 31943082 Six2 Regulates Pax9 Expression, Palatogenesis and Craniofacial Bone Formation Developmental Biology. 02, 2020 | Pubmed ID: 31765609 A Systematic Genetic Analysis and Visualization of Phenotypic Heterogeneity Among Orofacial Cleft GWAS Signals Genetic Epidemiology. 09, 2019 | Pubmed ID: 31172578 Phenotypic Spectrum Associated with SPECC1L Pathogenic Variants: New Families and Critical Review of the Nosology of Teebi, Opitz GBBB, and Baraitser-Winter Syndromes European Journal of Medical Genetics. Dec, 2019 | Pubmed ID: 30472488 RNA Sequencing-based Transcriptomic Profiles of Embryonic Lens Development for Cataract Gene Discovery Human Genetics. Dec, 2018 | Pubmed ID: 30417254 SPECC1L Deficiency Results in Increased Adherens Junction Stability and Reduced Cranial Neural Crest Cell Delamination Scientific Reports. Jan, 2016 | Pubmed ID: 26787558 THPO-MPL Pathway and Bone Marrow Failure Hematology/oncology and Stem Cell Therapy. Mar, 2015 | Pubmed ID: 25482588 Mutations in SPECC1L, Encoding Sperm Antigen with Calponin Homology and Coiled-coil Domains 1-like, Are Found in Some Cases of Autosomal Dominant Opitz G/BBB Syndrome Journal of Medical Genetics. Feb, 2015 | Pubmed ID: 25412741 Confirmation and Further Delineation of the 3q26.33-3q27.2 Microdeletion Syndrome European Journal of Medical Genetics. Feb, 2014 | Pubmed ID: 24462885 Exome Sequencing Reveals a Thrombopoietin Ligand Mutation in a Micronesian Family with Autosomal Recessive Aplastic Anemia Blood. Nov, 2013 | Pubmed ID: 24085763 Msx1 and Tbx2 Antagonistically Regulate Bmp4 Expression During the Bud-to-cap Stage Transition in Tooth Development Development (Cambridge, England). Jul, 2013 | Pubmed ID: 23720046 Exome Sequencing Provides Additional Evidence for the Involvement of ARHGAP29 in Mendelian Orofacial Clefting and Extends the Phenotypic Spectrum to Isolated Cleft Palate Birth Defects Research. Month, | Pubmed ID: 28029220 Isolamento e imaging time-lapse di cellule mesenchimiche palatali embrionali di topo primarie per analizzare gli attributi del movimento collettivo Jeremy P. Goering*1, Dona Greta Isai*1, Andras Czirok1,2, Irfan Saadi1 1Department of Anatomy and Cell Biology, University of Kansas Medical Center, 2Department of Biological Physics, Eotvos University JoVE 62151 Developmental Biology
Isolamento e imaging time-lapse di cellule mesenchimiche palatali embrionali di topo primarie per analizzare gli attributi del movimento collettivo Jeremy P. Goering*1, Dona Greta Isai*1, Andras Czirok1,2, Irfan Saadi1 1Department of Anatomy and Cell Biology, University of Kansas Medical Center, 2Department of Biological Physics, Eotvos University JoVE 62151 Developmental Biology