Publications:

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CRISPR/Cas9-engineering of HMC-1.2 cells renders a human mast cell line with a single D816V-KIT mutation: An improved preclinical model for research on mastocytosis.

Frontiers In Immunology

Bandara, Geethani G; Falduto, Guido H GH; Luker, Andrea A; Bai, Yun Y; Pfeiffer, Annika A; Lack, Justin J; Metcalfe, Dean D DD; Olivera, Ana A

Publication Date: 2023

Variant appearance in text: KIT: Y568F

PubMed Link: 37025992

Variant Present in the following documents:

• Main text
• fimmu-14-1078958.pdf

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: KIT: Y568F; rs749851557

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs749851557

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KIT: Y568F

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Stem cell factor and NSC87877 combine to enhance c-Kit mediated proliferation of human megakaryoblastic cells.

Plos One

Raghav, Pawan Kumar PK; Singh, Ajay Kumar AK; Gangenahalli, Gurudutta G

Publication Date: 2018

Variant appearance in text: CD117: Y568F

PubMed Link: 30388134

Variant Present in the following documents:

• Main text
• pone.0206364.pdf

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Activating c-KIT mutations confer oncogenic cooperativity and rescue RUNX1/ETO-induced DNA damage and apoptosis in human primary CD34+ hematopoietic progenitors.

Leukemia

Wichmann, C C; Quagliano-Lo Coco, I I; Yildiz, Ö Ö; Chen-Wichmann, L L; Weber, H H; Syzonenko, T T; Döring, C C; Brendel, C C; Ponnusamy, K K; Kinner, A A; Brandts, C C; Henschler, R R; Grez, M M

Publication Date: 2015-02

Variant appearance in text: KIT: Y568F

PubMed Link: 24897507

Variant Present in the following documents:

• Main text
• leu2014179a.pdf

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C-KIT signaling depends on microphthalmia-associated transcription factor for effects on cell proliferation.

Plos One

Phung, Bengt B; Sun, Jianmin J; Schepsky, Alexander A; Steingrimsson, Eirikur E; Rönnstrand, Lars L

Publication Date: 2011

Variant appearance in text: KIT: Y568F

PubMed Link: 21887372

Variant Present in the following documents:

• pone.0024064.pdf

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Direct binding of Cbl to Tyr568 and Tyr936 of the stem cell factor receptor/c-Kit is required for ligand-induced ubiquitination, internalization and degradation.

The Biochemical Journal

Masson, Kristina K; Heiss, Elke E; Band, Hamid H; Rönnstrand, Lars L

Publication Date: 2006-10-01

Variant appearance in text: CD117: Y568F

PubMed Link: 16780420

Variant Present in the following documents:

• Main text

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