Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.
International Journal Of Molecular Sciences
Palma-Lara, Icela I; García Alonso-Themann, Patricia P; Pérez-Durán, Javier J; Godínez-Aguilar, Ricardo R; Bonilla-Delgado, José J; Gómez-Archila, Damián D; Espinosa-García, Ana María AM; Nolasco-Quiroga, Manuel M; Victoria-Acosta, Georgina G; López-Ornelas, Adolfo A; Serrano-Bello, Juan Carlos JC; Olguín-García, María Guadalupe MG; Palacios-Reyes, Carmen C
Publication Date: 2023-05-17
Variant appearance in text: FAM20C: 1228T>A; Ser410Thr
FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.
International Journal Of Molecular Sciences
Palma-Lara, Icela I; Pérez-Ramírez, Monserrat M; García Alonso-Themann, Patricia P; Espinosa-García, Ana María AM; Godinez-Aguilar, Ricardo R; Bonilla-Delgado, José J; López-Ornelas, Adolfo A; Victoria-Acosta, Georgina G; Olguín-García, María Guadalupe MG; Moreno, José J; Palacios-Reyes, Carmen C
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: FAM20C: 1228T>A; Ser410Thr; rs148276213
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: FAM20C: S410T; rs148276213
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.
American Journal Of Medical Genetics. Part A
Clarke, Christine M CM; Fok, Vincent T VT; Gustafson, Jennifer A JA; Smyth, Matthew D MD; Timms, Andrew E AE; Frazar, Chris D CD; Smith, Joshua D JD; Birgfeld, Craig B CB; Lee, Amy A; Ellenbogen, Richard G RG; Gruss, Joseph S JS; Hopper, Richard A RA; Cunningham, Michael L ML
Publication Date: 2018-02
Variant appearance in text: FAM20C: 1228T>A; Ser410Thr
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
Bmc Medical Genetics
Bagnall, Richard D RD; Molloy, Laura K LK; Kalman, Jonathan M JM; Semsarian, Christopher C