Publications:

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Recent advances in diagnosis and therapy in systemic mastocytosis.

Blood Research

Lee, Hyun Jung HJ

Publication Date: 2023-04-30

Variant appearance in text: KIT: D816F

PubMed Link: 37105564

Variant Present in the following documents:

• br-58-s1-s96.pdf

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Emerging Targeted Therapeutic Strategies to Overcome Imatinib Resistance of Gastrointestinal Stromal Tumors.

International Journal Of Molecular Sciences

Masucci, Maria Teresa MT; Motti, Maria Letizia ML; Minopoli, Michele M; Di Carluccio, Gioconda G; Carriero, Maria Vincenza MV

Publication Date: 2023-03-23

Variant appearance in text: KIT: D816F

PubMed Link: 37046997

Variant Present in the following documents:

• Main text
• ijms-24-06026.pdf

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: KIT: D816F

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

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Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.

Cancers

El Hussein, Siba S; Chifotides, Helen T HT; Khoury, Joseph D JD; Verstovsek, Srdan S; Thakral, Beenu B

Publication Date: 2022-07-17

Variant appearance in text: KIT: D816F

PubMed Link: 35884535

Variant Present in the following documents:

• Main text
• cancers-14-03474.pdf

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Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.

Blood

Zhou, Yifan Y; Shalhoub, Ruba R; Rogers, Stephanie N SN; Yu, Shiqin S; Gu, Muxin M; Fabre, Margarete A MA; Quiros, Pedro M PM; Shin, Tae-Hoon TH; Diangson, Arch A; Deng, Wenhan W; Anand, Shubha S; Lu, Wenhua W; Cullen, Matthew M; Godfrey, Anna L AL; Preller, Jacobus J; Hadjadj, Jerome J; Jouanguy, Emmanuelle E; Cobat, Aurélie A; Abel, Laurent L; Rieux-Laucat, Frederic F; Terrier, Benjamin B; Fischer, Alain A; Novik, Lara L; Gordon, Ingelise J IJ; Strom, Larisa L; Gaudinski, Martin R MR; Lisco, Andrea A; Sereti, Irini I; Gniadek, Thomas J TJ; Biondi, Andrea A; Bonfanti, Paolo P; Imberti, Luisa L; Dalgard, Clifton L CL; Zhang, Yu Y; Dobbs, Kerry K; Su, Helen C HC; Notarangelo, Luigi D LD; Wu, Colin O CO; Openshaw, Peter J M PJM; Semple, Malcolm G MG; Mallat, Ziad Z; Baillie, Kenneth K; Dunbar, Cynthia E CE; Vassiliou, George S GS

Publication Date: 2022-10-06

Variant appearance in text: KIT: D816F

PubMed Link: 35839449

Variant Present in the following documents:

• mmc1.pdf

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: KIT: D816F

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

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Target Therapies for Systemic Mastocytosis: An Update.

Pharmaceuticals (Basel, Switzerland)

Sciumè, Mariarita M; De Magistris, Claudio C; Galli, Nicole N; Ferretti, Eleonora E; Milesi, Giulia G; De Roberto, Pasquale P; Fabris, Sonia S; Grifoni, Federica Irene FI

Publication Date: 2022-06-11

Variant appearance in text: KIT: D816F

PubMed Link: 35745657

Variant Present in the following documents:

• Main text
• pharmaceuticals-15-00738.pdf

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Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

International Journal Of Molecular Sciences

Katagiri, Seiichiro S; Chi, SungGi S; Minami, Yosuke Y; Fukushima, Kentaro K; Shibayama, Hirohiko H; Hosono, Naoko N; Yamauchi, Takahiro T; Morishita, Takanobu T; Kondo, Takeshi T; Yanada, Masamitsu M; Yamamoto, Kazuhito K; Kuroda, Junya J; Usuki, Kensuke K; Akahane, Daigo D; Gotoh, Akihiko A

Publication Date: 2022-04-23

Variant appearance in text: KIT: D816F

PubMed Link: 35563085

Variant Present in the following documents:

• Main text

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: KIT: D816F

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12

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Newly Developed Psoriasis in a Patient with Telangiectasia Macularis Eruptiva Perstans and Systemic Mastocytosis Treated with Interferon.

Case Reports In Dermatology

Péčová, Tatiana T; Burjanivová, Tatiana T; Malicherová, Bibiana B; Péč, Martin Jozef MJ; Rohoň, Igor I; Madleňák, Matúš M; Adamicová, Katarína K; Péč, Juraj J

Publication Date: 2021

Variant appearance in text: KIT: D816F

PubMed Link: 35082619

Variant Present in the following documents:

• cde-0013-0558.pdf

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Precision Medicine in Systemic Mastocytosis.

Medicina (Kaunas, Lithuania)

Nicolosi, Maura M; Patriarca, Andrea A; Andorno, Annalisa A; Mahmoud, Abdurraouf Mokhtar AM; Gennari, Alessandra A; Boldorini, Renzo R; Gaidano, Gianluca G; Crisà, Elena E

Publication Date: 2021-10-20

Variant appearance in text: KIT: D816F

PubMed Link: 34833353

Variant Present in the following documents:

• Main text
• medicina-57-01135.pdf

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The Role of Avapritinib for the Treatment of Systemic Mastocytosis.

Cureus

Sumbly, Vikram V; Landry, Ian I; Iqbal, Saba S; Bhatti, Zamaraq Z; Alshamam, Mohsen S MS; Ashfaq, Salman S; Rizzo, Vincent V

Publication Date: 2021-09

Variant appearance in text: KIT: D816F

PubMed Link: 34729266

Variant Present in the following documents:

• Main text
• cureus-0013-00000018385.pdf

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: KIT: D816F

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.

Mediterranean Journal Of Hematology And Infectious Diseases

Monaldi, Cecilia C; De Santis, Sara S; Mancini, Manuela M; Bruno, Samantha S; Cavo, Michele M; Soverini, Simona S

Publication Date: 2021

Variant appearance in text: KIT: D816F

PubMed Link: 34276915

Variant Present in the following documents:

• Main text
• mjhid-13-1-e2021046.pdf

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New Insights into the Pathogenesis of Systemic Mastocytosis.

International Journal Of Molecular Sciences

Li, Zhixiong Z

Publication Date: 2021-05-05

Variant appearance in text: KIT: D816F

PubMed Link: 34063170

Variant Present in the following documents:

• Main text
• ijms-22-04900.pdf

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Protein tyrosine phosphatase receptor type E (PTPRE) regulates the activation of wild-type KIT and KIT mutants differently.

Biochemistry And Biophysics Reports

Zhang, Shaoting S; Zhang, Liangying L; Jiang, Zongying Z; Guo, Yue Y; Zhao, Hui H; Sun, Jianmin J

Publication Date: 2021-07

Variant appearance in text: KIT: D816F

PubMed Link: 33732906

Variant Present in the following documents:

• Main text
• main.pdf

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: KIT: D816F

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review.

The Journal Of International Medical Research

Li, Yanfang Y; Li, Xiaoying X; Liu, Xianghong X; Kang, Lili L; Liu, Xinjie X

Publication Date: 2020-09

Variant appearance in text: KIT: D816F

PubMed Link: 32883129

Variant Present in the following documents:

• Main text
• 10.1177_0300060520952621.pdf

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Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy.

International Journal Of Molecular Sciences

Martelli, Margherita M; Monaldi, Cecilia C; De Santis, Sara S; Bruno, Samantha S; Mancini, Manuela M; Cavo, Michele M; Soverini, Simona S

Publication Date: 2020-06-02

Variant appearance in text: KIT: D816F

PubMed Link: 32498255

Variant Present in the following documents:

• Main text
• ijms-21-03987.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: KIT: D816F

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: D816F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Case Reports In Oncology

Orlova, Kristina V KV; Yanus, Grigory A GA; Aleksakhina, Svetlana N SN; Venina, Aigul R AR; Iyevleva, Aglaya G AG; Demidov, Lev V LV; Imyanitov, Evgeny N EN

Publication Date: 2019

Variant appearance in text: KIT: D816F

PubMed Link: 31043947

Variant Present in the following documents:

• cro-0012-0109-s01.pdf

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The new tool "KIT" in advanced systemic mastocytosis.

Hematology. American Society Of Hematology. Education Program

Shomali, William W; Gotlib, Jason J

Publication Date: 2018-11-30

Variant appearance in text: KIT: D816F

PubMed Link: 30504301

Variant Present in the following documents:

• Main text

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Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Genome Medicine

Heim, Daniel D; Montavon, Grégoire G; Hufnagl, Peter P; Müller, Klaus-Robert KR; Klauschen, Frederick F

Publication Date: 2018-11-15

Variant appearance in text: KIT: D816F

PubMed Link: 30442178

Variant Present in the following documents:

• 13073_2018_591_MOESM4_ESM.xlsx, sheet 1

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Molecular characterization and pathogenesis of gastrointestinal stromal tumor.

Translational Gastroenterology And Hepatology

Niinuma, Takeshi T; Suzuki, Hiromu H; Sugai, Tamotsu T

Publication Date: 2018

Variant appearance in text: KIT: D816F

PubMed Link: 29441367

Variant Present in the following documents:

• Main text

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Targeted Treatment Options in Mastocytosis.

Frontiers In Medicine

Vaes, Mélanie M; Benghiat, Fleur Samantha FS; Hermine, Olivier O

Publication Date: 2017

Variant appearance in text: KIT: D816F

PubMed Link: 28775983

Variant Present in the following documents:

• Main text

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: KIT: D816F

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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Mastocytosis: from a Molecular Point of View.

Clinical Reviews In Allergy & Immunology

Komi, Daniel Elieh Ali DEA; Rambasek, Todd T; Wöhrl, Stefan S

Publication Date: 2018-06

Variant appearance in text: KIT: D816F

PubMed Link: 28725969

Variant Present in the following documents:

• Main text

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Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology

Conde-Fernandes, Iolanda I; Sampaio, Rita R; Moreno, Filipa F; Palla-Garcia, José J; Teixeira, Maria Dos Anjos MDA; Freitas, Inês I; Neves, Esmeralda E; Jara-Acevedo, Maria M; Escribano, Luis L; Lima, Margarida M

Publication Date: 2017

Variant appearance in text: KIT: D816F

PubMed Link: 28439288

Variant Present in the following documents:

• Main text
• 13223_2017_Article_193.pdf

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: KIT: D816F

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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Sunitinib in the treatment of gastrointestinal stromal tumor: patient selection and perspectives.

Oncotargets And Therapy

Mulet-Margalef, Nuria N; Garcia-Del-Muro, Xavier X

Publication Date: 2016

Variant appearance in text: KIT: D816F

PubMed Link: 28008275

Variant Present in the following documents:

• Main text
• ott-9-7573.pdf

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Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.

Cell & Bioscience

Ke, Hengning H; Kazi, Julhash U JU; Zhao, Hui H; Sun, Jianmin J

Publication Date: 2016

Variant appearance in text: KIT: D816F

PubMed Link: 27777718

Variant Present in the following documents:

• Main text

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Receptor tyrosine kinase (c-Kit) inhibitors: a potential therapeutic target in cancer cells.

Drug Design, Development And Therapy

Abbaspour Babaei, Maryam M; Kamalidehghan, Behnam B; Saleem, Mohammad M; Huri, Hasniza Zaman HZ; Ahmadipour, Fatemeh F

Publication Date: 2016

Variant appearance in text: CD117: D816F

PubMed Link: 27536065

Variant Present in the following documents:

• Main text
• dddt-10-2443.pdf

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: KIT: D816F

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KIT: D816F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: KIT: D816F

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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A novel melting curve-based method for detecting c-kit mutations in acute myeloid leukemia.

Oncology Letters

Lu, Quanyi Q; Huang, Xiao X; Chen, Huaying H; Zhao, Xiaomin X

Publication Date: 2014-07

Variant appearance in text: KIT: D816F

PubMed Link: 24959227

Variant Present in the following documents:

• ol-08-01-0099.pdf

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Mastocytosis.

Immunology And Allergy Clinics Of North America

Carter, Melody C MC; Metcalfe, Dean D DD; Komarow, Hirsh D HD

Publication Date: 2014-02

Variant appearance in text: KIT: D816F

PubMed Link: 24262698

Variant Present in the following documents:

• Main text

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: KIT: D816F

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Cell cycle-dependent activity of the novel dual PI3K-MTORC1/2 inhibitor NVP-BGT226 in acute leukemia.

Molecular Cancer

Kampa-Schittenhelm, Kerstin Maria KM; Heinrich, Michael Charles MC; Akmut, Figen F; Rasp, Katharina Henriette KH; Illing, Barbara B; Döhner, Hartmut H; Döhner, Konstanze K; Schittenhelm, Marcus Matthias MM

Publication Date: 2013-05-24

Variant appearance in text: KIT: D816F

PubMed Link: 23705826

Variant Present in the following documents:

• Main text

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Mastocytosis: a paradigmatic example of a rare disease with complex biology and pathology.

American Journal Of Cancer Research

Valent, Peter P

Publication Date: 2013

Variant appearance in text: KIT: D816F

PubMed Link: 23593539

Variant Present in the following documents:

• Main text

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Quizartinib (AC220) is a potent second generation class III tyrosine kinase inhibitor that displays a distinct inhibition profile against mutant-FLT3, -PDGFRA and -KIT isoforms.

Molecular Cancer

Kampa-Schittenhelm, Kerstin Maria KM; Heinrich, Michael Charles MC; Akmut, Figen F; Döhner, Hartmut H; Döhner, Konstanze K; Schittenhelm, Marcus Matthias MM

Publication Date: 2013-03-07

Variant appearance in text: KIT: D816F

PubMed Link: 23497317

Variant Present in the following documents:

• Main text

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Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression.

European Journal Of Haematology

Verstovsek, Srdan S

Publication Date: 2013-02

Variant appearance in text: KIT: D816F

PubMed Link: 23181448

Variant Present in the following documents:

• Main text
• ejh0090-0089.pdf

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Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology

Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF

Publication Date: 2012-02

Variant appearance in text: KIT: D816F

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

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