Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: CALR: 1092_1143del; Leu367Thrfs
Essential thrombocythaemia progression to the fibrotic phase is associated with a decrease in JAK2 and PDL1 levels.
Annals Of Hematology
Lewandowski, Krzysztof K; Kanduła, Zuzanna Z; Gniot, Michał M; Paczkowska, Edyta E; Nawrocka, Paulina Maria PM; Wojtaszewska, Marzena M; Janowski, Michał M; Mariak, Magdalena M; Handschuh, Luiza L; Kozlowski, Piotr P
Publication Date: 2022-12
Variant appearance in text: CALR: 1099_1150del; Leu367Thrfs*46
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.
Geroscience
Del Pozo-Valero, Marta M; Corton, Marta M; López-Rodríguez, Rosario R; Mahillo-Fernández, Ignacio I; Ruiz-Hornillos, Javier J; Minguez, Pablo P; Villaverde, Cristina C; Pérez-Tomás, María Elena ME; Barreda-Sánchez, María M; Mancebo, Esther E; , ; Paz-Artal, Estela E; Guillén-Navarro, Encarna E; Almoguera, Berta B; Ayuso, Carmen C
Publication Date: 2022-10-03
Variant appearance in text: CALR: 1099_1150del; Leu367Thrfs
Distinguishing STAT3/STAT5B Mutated Large Granular Lymphocyte Leukemia from Myeloid Neoplasms by Genetic Profiling.
Blood Advances
Kavesh, Mark M; Mohebnasab, Maedeh M; Angel, Marcela Riveros MR; Xie, Wei W; Raess, Philipp W PW; Cui, Wei W; Press, Richard D RD; Yang, Guang G; Li, Peng P
Publication Date: 2022-08-08
Variant appearance in text: CALR: 1099_1150del; L367fs
Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.
Ejhaem
Cheng, Chi-Keung CK; Lai, Jennifer W Y JWY; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Wong, Raymond S M RSM; Chan, Natalie P H NPH; Cheung, Joyce S JS; Luo, Xi X; Pitts, Herbert-Augustus HA; Ng, Margaret H L MHL
Publication Date: 2022-02
Variant appearance in text: CALR: 1099_1150del; L367Tfs*46
Targeting human CALR-mutated MPN progenitors with a neoepitope-directed monoclonal antibody.
Embo Reports
Tvorogov, Denis D; Thompson-Peach, Chloe A L CAL; Foßelteder, Johannes J; Dottore, Mara M; Stomski, Frank F; Onnesha, Suraiya A SA; Lim, Kelly K; Moretti, Paul A B PAB; Pitson, Stuart M SM; Ross, David M DM; Reinisch, Andreas A; Thomas, Daniel D; Lopez, Angel F AF
Publication Date: 2022-04-05
Variant appearance in text: CALR: 1099_1150del; Leu367Thrfs*46
Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.
Clinical performance and utility of a comprehensive next-generation sequencing DNA panel for the simultaneous analysis of variants, TMB and MSI for myeloid neoplasms.
Plos One
Sahajpal, Nikhil Shri NS; Mondal, Ashis K AK; Ananth, Sudha S; Njau, Allan A; Ahluwalia, Pankaj P; Jones, Kimya K; Ahluwalia, Meenakshi M; Okechukwu, Nwogbo N; Savage, Natasha M NM; Kota, Vamsi V; Rojiani, Amyn M AM; Kolhe, Ravindra R
Portal Thrombosis in Cirrhosis: Role of Thrombophilic Disorders.
Journal Of Clinical Medicine
Fortea, José Ignacio JI; Carrera, Inés García IG; Puente, Ángela Á; Cuadrado, Antonio A; Huelin, Patricia P; Tato, Carmen Álvarez CÁ; Fernández, Paloma Álvarez PÁ; Montes, María Del Rocío Pérez MDRP; Céspedes, Javier Nuñez JN; López, Ana Batlle AB; Sanchez, Francisco José González FJG; Hoyos, Marcos López ML; Crespo, Javier J; Fábrega, Emilio E
STAT5 is Expressed in CD34+/CD38- Stem Cells and Serves as a Potential Molecular Target in Ph-Negative Myeloproliferative Neoplasms.
Cancers
Hadzijusufovic, Emir E; Keller, Alexandra A; Berger, Daniela D; Greiner, Georg G; Wingelhofer, Bettina B; Witzeneder, Nadine N; Ivanov, Daniel D; Pecnard, Emmanuel E; Nivarthi, Harini H; Schur, Florian K M FKM; Filik, Yüksel Y; Kornauth, Christoph C; Neubauer, Heidi A HA; Müllauer, Leonhard L; Tin, Gary G; Park, Jisung J; de Araujo, Elvin D ED; Gunning, Patrick T PT; Hoermann, Gregor G; Gouilleux, Fabrice F; Kralovics, Robert R; Moriggl, Richard R; Valent, Peter P
Publication Date: 2020-04-21
Variant appearance in text: CALR: 1099_1150del; Leu367Thrfs*46
Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design.
Plos One
Aguilera-Diaz, Almudena A; Vazquez, Iria I; Ariceta, Beñat B; Mañú, Amagoia A; Blasco-Iturri, Zuriñe Z; Palomino-Echeverría, Sara S; Larrayoz, María José MJ; García-Sanz, Ramón R; Prieto-Conde, María Isabel MI; Del Carmen Chillón, María M; Alfonso-Pierola, Ana A; Prosper, Felipe F; Fernandez-Mercado, Marta M; Calasanz, María José MJ
Publication Date: 2020
Variant appearance in text: CALR: 1099_1150del; Leu367Thrfs
Single-cell analysis based dissection of clonality in myelofibrosis.
Nature Communications
Mylonas, Elena E; Yoshida, Kenichi K; Frick, Mareike M; Hoyer, Kaja K; Christen, Friederike F; Kaeda, Jaspal J; Obenaus, Matthias M; Noerenberg, Daniel D; Hennch, Cornelius C; Chan, Willy W; Ochi, Yotaro Y; Shiraishi, Yuichi Y; Shiozawa, Yusuke Y; Zenz, Thorsten T; Oakes, Christopher C CC; Sawitzki, Birgit B; Schwarz, Michaela M; Bullinger, Lars L; le Coutre, Philipp P; Rose-Zerilli, Matthew J J MJJ; Ogawa, Seishi S; Damm, Frederik F
Detection of CALR Mutations Using High Resolution Melting Curve Analysis (HRM-A); Application on a Large Cohort of Greek ET and MF Patients.
Mediterranean Journal Of Hematology And Infectious Diseases
Giannopoulos, Andreas A; Rougkala, Niki N; Loupis, Theodoros T; Mantzourani, Marina M; Viniou, Nora-Athina NA; Variami, Eleni E; Vassilakopoulos, Theodoros P TP; Dryllis, George G; Kotsianidis, Ioannis I; Gougopoulou, Theodora T; Politou, Marianna M; Konstantopoulos, Kostas K; Vassilopoulos, George G
Publication Date: 2019
Variant appearance in text: CALR: 1092_1143del; L367fs
Detection and characterization of homozygosity of mutated CALR by copy neutral loss of heterozygosity in myeloproliferative neoplasms among cases with high CALR mutation loads or with progressive disease.
Haematologica
Stengel, Anna A; Jeromin, Sabine S; Haferlach, Torsten T; Meggendorfer, Manja M; Kern, Wolfgang W; Haferlach, Claudia C
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: CALR: 1099_1150delCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG; Leu367fs
[Clinical significance of JAK2、CALR and MPL gene mutations in 1 648 Philadelphia chromosome negative myeloproliferative neoplasms patients from a single center].
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Li, M Y MY; Chao, H Y HY; Sun, A N AN; Qiu, H Y HY; Jin, Z M ZM; Tang, X W XW; Han, Y Y; Fu, C C CC; Chen, S N SN; Wu, D P DP