Publications:

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: IGF1R: N857S

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: IGF1R: N857S

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: IGF1R: N857S; rs45611935

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical Features and Genomic Characterization of Post-Colonoscopy Colorectal Cancer.

Clinical And Translational Gastroenterology

Tanaka, Hidenori H; Urabe, Yuji Y; Oka, Shiro S; Shimohara, Yasutsugu Y; Nishimura, Tomoyuki T; Inagaki, Katsuaki K; Okamoto, Yuki Y; Matsumoto, Kenta K; Yamashita, Ken K; Sumimoto, Kyoku K; Ninomiya, Yuki Y; Yuge, Ryo R; Tanaka, Shinji S; Chayama, Kazuaki K

Publication Date: 2020-10

Variant appearance in text: IGF1R: N857S

PubMed Link: 33031197

Variant Present in the following documents:

• ct9-11-e00246-s003.xlsx, sheet 1

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: IGF1R: 2570A>G; N857S; rs45611935

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Bmc Medical Genetics

Sha, Yanwei Y; Ma, Ding D; Zhang, Ning N; Wei, Xiaoli X; Liu, Wensheng W; Wang, Xiong X

Publication Date: 2019-08-01

Variant appearance in text: IGF1R: N857S; rs45611935

PubMed Link: 31370824

Variant Present in the following documents:

• 12881_2019_864_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: IGF1R: 2570A>G; N857S; rs45611935

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Plastic And Reconstructive Surgery

Ye, Xiaoqian X; Guilmatre, Audrey A; Reva, Boris B; Peter, Inga I; Heuzé, Yann Y; Richtsmeier, Joan T JT; Fox, Deborah J DJ; Goedken, Rhinda J RJ; Jabs, Ethylin Wang EW; Romitti, Paul A PA

Publication Date: 2016-03

Variant appearance in text: IGF1R: 2570A>G; N857S

PubMed Link: 26910679

Variant Present in the following documents:

• Main text

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: N857S; rs45611935

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: N857S

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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Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Current Genetic Medicine Reports

Heuzé, Yann Y; Holmes, Gregory G; Peter, Inga I; Richtsmeier, Joan T JT; Jabs, Ethylin Wang EW

Publication Date: 2014-09-01

Variant appearance in text: IGF1R: N857S

PubMed Link: 26146596

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: IGF1R: N857S; rs45611935

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

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IGF1R variants associated with isolated single suture craniosynostosis.

American Journal Of Medical Genetics. Part A

Cunningham, Michael L ML; Horst, Jeremy A JA; Rieder, Mark J MJ; Hing, Anne V AV; Stanaway, Ian B IB; Park, Sarah S SS; Samudrala, Ram R; Speltz, Matthew L ML

Publication Date: 2011-01

Variant appearance in text: IGF1R: N857S; rs45611935

PubMed Link: 21204214

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene.

Journal Of Biomedicine & Biotechnology

de Alencar, S A SA; Lopes, Julio C D JC

Publication Date: 2010

Variant appearance in text: rs45611935

PubMed Link: 20625407

Variant Present in the following documents:

• Main text
• JBB2010-715139.pdf

View BVdb publication page

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