Articles amb requisits d'accés públic - Irfan SaadiMés informació
Disponibles en algun lloc: 28
Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood
XP Wang, DJ O'Connell, JJ Lund, I Saadi, M Kuraguchi, A Turbe-Doan, ...
Oxford University Press for The Company of Biologists Limited 136 (11), 1939 …, 2009
Requisits: US National Institutes of Health
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
SA Lachke, FS Alkuraya, SC Kneeland, T Ohn, A Aboukhalil, GR Howell, ...
Science 331 (6024), 1571-1576, 2011
Requisits: US National Institutes of Health, Howard Hughes Medical Institute
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
I Saadi, FS Alkuraya, SS Gisselbrecht, W Goessling, R Cavallesco, ...
The American Journal of Human Genetics 89 (1), 44-55, 2011
Requisits: US National Institutes of Health, Canadian Institutes of Health Research
Genomic analyses in African populations identify novel risk loci for cleft palate
A Butali, PA Mossey, WL Adeyemo, MA Eshete, LJJ Gowans, TD Busch, ...
Human molecular genetics 28 (6), 1038-1051, 2019
Requisits: US National Institutes of Health
Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia
MJ Dasouki, SK Rafi, AJ Olm-Shipman, NR Wilson, S Abhyankar, ...
Blood, The Journal of the American Society of Hematology 122 (20), 3440-3449, 2013
Requisits: US National Institutes of Health
The cell adhesion gene PVRL3 is associated with congenital ocular defects
SA Lachke, AW Higgins, M Inagaki, I Saadi, Q Xi, M Long, BJ Quade, ...
Human genetics 131, 235-250, 2012
Requisits: US National Institutes of Health
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate
H Liu, T Busch, S Eliason, D Anand, S Bullard, LJJ Gowans, N Nidey, ...
Birth defects research 109 (1), 27-37, 2017
Requisits: US National Institutes of Health, National Health and Medical Research …
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
P Kruszka, D Li, MH Harr, NR Wilson, D Swarr, EM McCormick, ...
Journal of medical genetics 52 (2), 104-110, 2015
Requisits: US National Institutes of Health
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals
JC Carlson, D Anand, A Butali, CJ Buxo, K Christensen, F Deleyiannis, ...
Genetic epidemiology 43 (6), 704-716, 2019
Requisits: US National Institutes of Health, Robert Wood Johnson Foundation
SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination
NR Wilson, AJ Olm-Shipman, DS Acevedo, K Palaniyandi, EG Hall, ...
Scientific reports 6 (1), 17735, 2016
Requisits: US National Institutes of Health
Msx1 and Tbx2 antagonistically regulate Bmp4 expression during the bud-to-cap stage transition in tooth development
I Saadi, P Das, M Zhao, L Raj, I Ruspita, Y Xia, VE Papaioannou, M Bei
Development 140 (13), 2697-2702, 2013
Requisits: US National Institutes of Health
RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery
D Anand, A Kakrana, AD Siddam, H Huang, I Saadi, SA Lachke
Human genetics 137, 941-954, 2018
Requisits: US National Institutes of Health
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
EJ Bhoj, D Haye, A Toutain, D Bonneau, IK Nielsen, IB Lund, P Bogaard, ...
European journal of medical genetics 62 (12), 103588, 2019
Requisits: US National Institutes of Health
SPECC1L regulates palate development downstream of IRF6
EG Hall, LW Wenger, NR Wilson, SS Undurty-Akella, J Standley, ...
Human molecular genetics 29 (5), 845-858, 2020
Requisits: US National Institutes of Health, Robert Wood Johnson Foundation
Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation
YY Sweat, M Sweat, M Mansaray, H Cao, S Eliason, WL Adeyemo, ...
Developmental biology 458 (2), 246-256, 2020
Requisits: US National Institutes of Health
TWIST1 interacts with β/δ-catenins during neural tube development and regulates fate transition in cranial neural crest cells
JW Bertol, S Johnston, R Ahmed, VK Xie, KM Hubka, L Cruz, L Nitschke, ...
Development 149 (15), dev200068, 2022
Requisits: US National Institutes of Health
In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events
JP Goering, LW Wenger, M Stetsiv, M Moedritzer, EG Hall, DG Isai, ...
Human Molecular Genetics 31 (1), 18-31, 2022
Requisits: US National Institutes of Health
SPECC1L-deficient primary mouse embryonic palatal mesenchyme cells show speed and directionality defects
JP Goering, DG Isai, EG Hall, NR Wilson, E Kosa, LW Wenger, Z Umar, ...
Scientific Reports 11 (1), 1452, 2021
Requisits: US National Institutes of Health
Protein inhibitors of activated STAT (Pias1 and Piasy) differentially regulate pituitary homeobox 2 (PITX2) transcriptional activity
J Wang, Z Sun, Z Zhang, I Saadi, J Wang, X Li, S Gao, JJ Engle, ...
Journal of Biological Chemistry 288 (18), 12580-12595, 2013
Requisits: US National Institutes of Health
Anti-epileptic drug topiramate upregulates TGFβ1 and SOX9 expression in primary embryonic palatal mesenchyme cells: implications for teratogenicity
SK Rafi, JP Goering, AJ Olm-Shipman, LA Hipp, NJ Ernst, NR Wilson, ...
Plos one 16 (2), e0246989, 2021
Requisits: US National Institutes of Health
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