Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: TP53: 1135C>T; Arg379Cys
The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.
Bmc Genomics
Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T
The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.
Bmc Genomics
Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.
Esmo Open
De Falco, Vincenzo V; Poliero, Luca L; Vitello, Pietro Paolo PP; Ciardiello, Davide D; Vitale, Pasquale P; Zanaletti, Nicoletta N; Giunta, Emilio Francesco EF; Terminiello, Marinella M; Caputo, Vincenza V; Carlino, Francesca F; Di Liello, Raimondo R; Ventriglia, Anna A; Famiglietti, Vincenzo V; Martinelli, Erika E; Morgillo, Floriana F; Orditura, Michele M; De Vita, Ferdinando F; Fasano, Morena M; Napolitano, Stefania S; Martini, Giulia G; Della Corte, Carminia Maria CM; Franco, Renato R; Altucci, Lucia L; Ciardiello, Fortunato F; Troiani, Teresa T
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08
Variant appearance in text: TP53: 1135C>T; Arg379Cys
Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.
Nature Genetics
Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T