Macrophage Activation Syndrome Versus Hemophagocytic Lymphohistiocytosis: A Diagnostic Dilemma in a Patient With Still's Disease and Epstein-Barr Virus Viremia.
Journal Of Hematology
Gomez, Roberta R; Maakaron, Joseph J; Baiocchi, Robert R
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: PRF1: N252S; rs28933375
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: PRF1: N252S; rs28933375
Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia.
Leukemia
Cross, Nicholas C P NCP; Hoade, Yvette Y; Tapper, William J WJ; Carreno-Tarragona, Gonzalo G; Fanelli, Tiziana T; Jawhar, Mohamad M; Naumann, Nicole N; Pieniak, Iwo I; Lübke, Johannes J; Ali, Sahra S; Bhuller, Kaljit K; Burgstaller, Sonja S; Cargo, Catherine C; Cavenagh, Jamie J; Duncombe, Andrew S AS; Das-Gupta, Emma E; Evans, Paul P; Forsyth, Peter P; George, Philip P; Grimley, Charlotte C; Jack, Fergus F; Munro, Laura L; Mehra, Varun V; Patel, Kavita K; Rismani, Ali A; Sciuccati, Gabriela G; Thomas-Dewing, Rowena R; Thornton, Patrick P; Virchis, Andres A; Watt, Simon S; Wallis, Louise L; Whiteway, Alastair A; Zegocki, Kris K; Bain, Barbara J BJ; Reiter, Andreas A; Chase, Andrew A
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: PRF1: N252S; rs28933375
The population genetics of human disease: The case of recessive, lethal mutations.
Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09
Variant appearance in text: PRF1: 755A>G; Asn252Ser; rs28933375
Heterogeneous Tumor-Immune Microenvironments among Differentially Growing Metastases in an Ovarian Cancer Patient.
Cell
Jiménez-Sánchez, Alejandro A; Memon, Danish D; Pourpe, Stephane S; Veeraraghavan, Harini H; Li, Yanyun Y; Vargas, Hebert Alberto HA; Gill, Michael B MB; Park, Kay J KJ; Zivanovic, Oliver O; Konner, Jason J; Ricca, Jacob J; Zamarin, Dmitriy D; Walther, Tyler T; Aghajanian, Carol C; Wolchok, Jedd D JD; Sala, Evis E; Merghoub, Taha T; Snyder, Alexandra A; Miller, Martin L ML
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: PRF1: N252S; rs28933375
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.
The Journal Of Allergy And Clinical Immunology
Cetica, Valentina V; Sieni, Elena E; Pende, Daniela D; Danesino, Cesare C; De Fusco, Carmen C; Locatelli, Franco F; Micalizzi, Concetta C; Putti, Maria Caterina MC; Biondi, Andrea A; Fagioli, Franca F; Moretta, Lorenzo L; Griffiths, Gillian M GM; Luzzatto, Lucio L; Aricò, Maurizio M
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: PRF1: N252S; rs28933375
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.
Frontiers In Immunology
Sieni, Elena E; Cetica, Valentina V; Hackmann, Yvonne Y; Coniglio, Maria Luisa ML; Da Ros, Martina M; Ciambotti, Benedetta B; Pende, Daniela D; Griffiths, Gillian G; Aricò, Maurizio M
Human perforin mutations and susceptibility to multiple primary cancers.
Oncoimmunology
Trapani, Joseph A JA; Thia, Kevin Y T KY; Andrews, Miles M; Davis, Ian D ID; Gedye, Craig C; Parente, Philip P; Svobodova, Suzanne S; Chia, Jenny J; Browne, Kylie K; Campbell, Ian G IG; Phillips, Wayne A WA; Voskoboinik, Ilia I; Cebon, Jonathan S JS