Publications:

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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: IGF1R: 4040C>T; Ala1347Val

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Oncotarget

Gudernova, Iva I; Balek, Lukas L; Varecha, Miroslav M; Kucerova, Jana Fialova JF; Kunova Bosakova, Michaela M; Fafilek, Bohumil B; Palusova, Veronika V; Uldrijan, Stjepan S; Trantirek, Lukas L; Krejci, Pavel P

Publication Date: 2017-12-12

Variant appearance in text: IGF1R: A1347V

PubMed Link: 29312610

Variant Present in the following documents:

• Main text
• oncotarget-08-109319.pdf

View BVdb publication page

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One reporter for in-cell activity profiling of majority of protein kinase oncogenes.

Elife

Gudernova, Iva I; Foldynova-Trantirkova, Silvie S; Ghannamova, Barbora El BE; Fafilek, Bohumil B; Varecha, Miroslav M; Balek, Lukas L; Hruba, Eva E; Jonatova, Lucie L; Jelinkova, Iva I; Kunova Bosakova, Michaela M; Trantirek, Lukas L; Mayer, Jiri J; Krejci, Pavel P

Publication Date: 2017-02-15

Variant appearance in text: IGF1R: A1347V

PubMed Link: 28199182

Variant Present in the following documents:

• elife-21536-supp3.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: IGF1R: A1347V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Kopetz, Scott S; Desai, Jayesh J; Chan, Emily E; Hecht, Joel Randolph JR; O'Dwyer, Peter J PJ; Maru, Dipen D; Morris, Van V; Janku, Filip F; Dasari, Arvind A; Chung, Woonbook W; Issa, Jean-Pierre J JP; Gibbs, Peter P; James, Brian B; Powis, Garth G; Nolop, Keith B KB; Bhattacharya, Suman S; Saltz, Leonard L

Publication Date: 2015-12-01

Variant appearance in text: IGF1R: A1347V

PubMed Link: 26460303

Variant Present in the following documents:

• supp_33.34.4032_DS_2015.632497.pdf

View BVdb publication page

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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: IGF1R: A1347V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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A multiscale statistical mechanical framework integrates biophysical and genomic data to assemble cancer networks.

Nature Genetics

AlQuraishi, Mohammed M; Koytiger, Grigoriy G; Jenney, Anne A; MacBeath, Gavin G; Sorger, Peter K PK

Publication Date: 2014-12

Variant appearance in text: IGF1R: A1347V

PubMed Link: 25362484

Variant Present in the following documents:

• Main text
• nihms-634676.pdf

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Autophagy limits the cytotoxic effects of the AKT inhibitor AZ7328 in human bladder cancer cells.

Cancer Biology & Therapy

Dickstein, Rian J RJ; Nitti, Giovanni G; Dinney, Colin P CP; Davies, Barry R BR; Kamat, Ashish M AM; McConkey, David J DJ

Publication Date: 2012-11

Variant appearance in text: IGF1R: A1347V

PubMed Link: 22895070

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of somatic mutations in the C-terminus of insulin-like growth factor 1 receptor on activity and signaling.

Journal Of Signal Transduction

Craddock, Barbara P BP; Miller, W Todd WT

Publication Date: 2012

Variant appearance in text: IGF1R: A1347V

PubMed Link: 22778948

Variant Present in the following documents:

• Main text
• JST2012-804801.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: IGF1R: A1347V

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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