Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: CEP152: K667R; rs200879436
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: CEP152: K667R; rs200879436
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Nature Genetics
Kalay, Ersan E; Yigit, Gökhan G; Aslan, Yakup Y; Brown, Karen E KE; Pohl, Esther E; Bicknell, Louise S LS; Kayserili, Hülya H; Li, Yun Y; Tüysüz, Beyhan B; Nürnberg, Gudrun G; Kiess, Wieland W; Koegl, Manfred M; Baessmann, Ingelore I; Buruk, Kurtulus K; Toraman, Bayram B; Kayipmaz, Saadettin S; Kul, Sibel S; Ikbal, Mevlit M; Turner, Daniel J DJ; Taylor, Martin S MS; Aerts, Jan J; Scott, Carol C; Milstein, Karen K; Dollfus, Helene H; Wieczorek, Dagmar D; Brunner, Han G HG; Hurles, Matthew M; Jackson, Andrew P AP; Rauch, Anita A; Nürnberg, Peter P; Karagüzel, Ahmet A; Wollnik, Bernd B
Publication Date: 2011-01
Variant appearance in text: CEP152: 2000A>G; Lys667Arg