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: CALR: 1154_1155insTTGTC
Transcriptomic Analysis Reveals JAK2/MPL-Independent Effects of Calreticulin Mutations in a C. elegans Model.
Cells
Guijarro-Hernández, Ana A; Eder-Azanza, Laura L; Hurtado, Cristina C; Navarro-Herrera, David D; Ezcurra, Begoña B; Novo, Francisco Javier FJ; Cabello, Juan J; Vizmanos, José Luis JL
Publication Date: 2023-01-02
Variant appearance in text: CALR: 1154_1155insTTGTC
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: 1154_1155insTTGTC; Lys385Asnfs*47
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: 1154_1155insTTGTC; K385Nfs*47
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06
Variant appearance in text: CALR: 1154_1155insTTGTC
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
Publication Date: 2020
Variant appearance in text: CALR: 1154_1155insTTGTC
Monitoring of clonal evolution of acute myeloid leukemia identifies the leukemia subtype, clinical outcome and potential new drug targets for post-remission strategies or relapse.
Haematologica
Onecha, Esther E; Rapado, Inmaculada I; Luz Morales, María M; Carreño-Tarragona, Gonzalo G; Martinez-Sanchez, Pilar P; Gutierrez, Xabier X; Sáchez Pina, José María JM; Linares, María M; Gallardo, Miguel M; Martinez-López, Joaquín J; Ayala, Rosa R
Publication Date: 2021-09-01
Variant appearance in text: CALR: 1154insTTGTC; Lys385fs
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: 1154_1155insTTGTC; Lys385Asnfs*47
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: 1154_1155insTTGTC; Lys385Asnfs
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
Publication Date: 2020-01-07
Variant appearance in text: CALR: 1154_1155insTTGTC; K385fs
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: 1154_1155insTTGTC
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
Publication Date: 2019-05
Variant appearance in text: CALR: 1154_1155insTTGTC
Characteristics of myeloproliferative neoplasms in patients exposed to ionizing radiation following the Chernobyl nuclear accident.
American Journal Of Hematology
Poluben, Larysa L; Puligandla, Maneka M; Neuberg, Donna D; Bryke, Christine R CR; Hsu, Yahsuan Y; Shumeiko, Oleksandr O; Yuan, Xin X; Voznesensky, Olga O; Pihan, German G; Adam, Miriam M; Fraenkel, Ernest E; Rasnic, Roni R; Linial, Michal M; Klymenko, Sergiy S; Balk, Steven P SP; Fraenkel, Paula G PG
Publication Date: 2019-01
Variant appearance in text: CALR: 1154_1155insTTGTC; K385fs
Prediction of acute myeloid leukaemia risk in healthy individuals.
Nature
Abelson, Sagi S; Collord, Grace G; Ng, Stanley W K SWK; Weissbrod, Omer O; Mendelson Cohen, Netta N; Niemeyer, Elisabeth E; Barda, Noam N; Zuzarte, Philip C PC; Heisler, Lawrence L; Sundaravadanam, Yogi Y; Luben, Robert R; Hayat, Shabina S; Wang, Ting Ting TT; Zhao, Zhen Z; Cirlan, Iulia I; Pugh, Trevor J TJ; Soave, David D; Ng, Karen K; Latimer, Calli C; Hardy, Claire C; Raine, Keiran K; Jones, David D; Hoult, Diana D; Britten, Abigail A; McPherson, John D JD; Johansson, Mattias M; Mbabaali, Faridah F; Eagles, Jenna J; Miller, Jessica K JK; Pasternack, Danielle D; Timms, Lee L; Krzyzanowski, Paul P; Awadalla, Philip P; Costa, Rui R; Segal, Eran E; Bratman, Scott V SV; Beer, Philip P; Behjati, Sam S; Martincorena, Inigo I; Wang, Jean C Y JCY; Bowles, Kristian M KM; Quirós, J Ramón JR; Karakatsani, Anna A; La Vecchia, Carlo C; Trichopoulou, Antonia A; Salamanca-Fernández, Elena E; Huerta, José M JM; Barricarte, Aurelio A; Travis, Ruth C RC; Tumino, Rosario R; Masala, Giovanna G; Boeing, Heiner H; Panico, Salvatore S; Kaaks, Rudolf R; Krämer, Alwin A; Sieri, Sabina S; Riboli, Elio E; Vineis, Paolo P; Foll, Matthieu M; McKay, James J; Polidoro, Silvia S; Sala, Núria N; Khaw, Kay-Tee KT; Vermeulen, Roel R; Campbell, Peter J PJ; Papaemmanuil, Elli E; Minden, Mark D MD; Tanay, Amos A; Balicer, Ran D RD; Wareham, Nicholas J NJ; Gerstung, Moritz M; Dick, John E JE; Brennan, Paul P; Vassiliou, George S GS; Shlush, Liran I LI
[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
Publication Date: 2017-04-14
Variant appearance in text: CALR: 1154_1155insTTGTC
Calreticulin-mutant proteins induce megakaryocytic signaling to transform hematopoietic cells and undergo accelerated degradation and Golgi-mediated secretion.
Journal Of Hematology & Oncology
Han, Lijuan L; Schubert, Claudia C; Köhler, Johanna J; Schemionek, Mirle M; Isfort, Susanne S; Brümmendorf, Tim H TH; Koschmieder, Steffen S; Chatain, Nicolas N
Publication Date: 2016-05-13
Variant appearance in text: CALR: 1154_1155insTTGTC
Screening PCR Versus Sanger Sequencing: Detection of CALR Mutations in Patients With Thrombocytosis.
Annals Of Laboratory Medicine
Jeong, Ji Hun JH; Lee, Hwan Tae HT; Seo, Ja Young JY; Seo, Yiel Hea YH; Kim, Kyung Hee KH; Kim, Moon Jin MJ; Lee, Jae Hoon JH; Park, Jinny J; Hong, Jun Shik JS; Park, Pil Whan PW; Ahn, Jeong Yeal JY
Publication Date: 2016-07
Variant appearance in text: CALR: 1154_1155insTTGTC
Acute Lymphoblastic Leukemia Arising in CALR Mutated Essential Thrombocythemia.
Case Reports In Hematology
Langabeer, Stephen E SE; Haslam, Karl K; O'Brien, David D; Kelly, Johanna J; Andrews, Claire C; Ryan, Ciara C; Flavin, Richard R; Hayden, Patrick J PJ; Bacon, Christopher L CL