Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: IGF1R: E1043E

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Characteristics of circulating small noncoding RNAs in plasma and serum during human aging.

Aging Medicine (Milton (N.S.W))

Xiao, Ping P; Shi, Zhangyue Z; Liu, Chenang C; Hagen, Darren E DE

Publication Date: 2023-03

Variant appearance in text: rs2229765

PubMed Link: 36911092

Variant Present in the following documents:

• AGM2-6-35-s002.xlsx, sheet 3

View BVdb publication page

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Hemangioma-related gene polymorphisms in the pathogenesis of intraventricular hemorrhage in preterm infants.

Child'S Nervous System : Chns : Official Journal Of The International Society For Pediatric Neurosurgery

Kosik, Katarzyna K; Szpecht, Dawid D; Karbowski, Łukasz Ł; Al-Saad, Salwan R SR; Chmielarz-Czarnocińska, Anna A; Minta, Marcin M; Sowińska, Anna A; Strauss, Ewa E

Publication Date: 2023-01-19

Variant appearance in text: rs2229765

PubMed Link: 36656337

Variant Present in the following documents:

• Main text
• 381_2023_Article_5824.pdf

View BVdb publication page

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Pharmacogenetics Role of Genetic Variants in Immune-Related Factors: A Systematic Review Focusing on mCRC.

Pharmaceutics

Scarabel, Lucia L; Bignucolo, Alessia A; Toffoli, Giuseppe G; Cecchin, Erika E; De Mattia, Elena E

Publication Date: 2022-11-15

Variant appearance in text: rs2229765

PubMed Link: 36432658

Variant Present in the following documents:

• Main text
• pharmaceutics-14-02468.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs2229765

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs2229765

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2229765

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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The Insulin-like Growth Factor System and Colorectal Cancer.

Life (Basel, Switzerland)

Gligorijević, Nikola N; Dobrijević, Zorana Z; Šunderić, Miloš M; Robajac, Dragana D; Četić, Danilo D; Penezić, Ana A; Miljuš, Goran G; Nedić, Olgica O

Publication Date: 2022-08-20

Variant appearance in text: rs2229765

PubMed Link: 36013453

Variant Present in the following documents:

• Main text
• life-12-01274.pdf

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: IGF1R: 3129G>A; Glu1043Glu; rs2229765

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: IGF1R: E1043E

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases.

International Journal Of Molecular Sciences

Oton-Gonzalez, Lucia L; Mazziotta, Chiara C; Iaquinta, Maria Rosa MR; Mazzoni, Elisa E; Nocini, Riccardo R; Trevisiol, Lorenzo L; D'Agostino, Antonio A; Tognon, Mauro M; Rotondo, John Charles JC; Martini, Fernanda F

Publication Date: 2022-01-28

Variant appearance in text: rs2229765

PubMed Link: 35163424

Variant Present in the following documents:

• Main text
• ijms-23-01500.pdf

View BVdb publication page

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Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases.

International Journal Of Molecular Sciences

Oton-Gonzalez, Lucia L; Mazziotta, Chiara C; Iaquinta, Maria Rosa MR; Mazzoni, Elisa E; Nocini, Riccardo R; Trevisiol, Lorenzo L; D'Agostino, Antonio A; Tognon, Mauro M; Rotondo, John Charles JC; Martini, Fernanda F

Publication Date: 2022-01-28

Variant appearance in text: rs2229765

PubMed Link: 35163424

Variant Present in the following documents:

• Main text
• ijms-23-01500.pdf

View BVdb publication page

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Let's talk about sex: A biological variable in immune response against melanoma.

Pigment Cell & Melanoma Research

Dakup, Panshak P PP; Greer, Adam J AJ; Gaddameedhi, Shobhan S

Publication Date: 2022-03

Variant appearance in text: rs2229765

PubMed Link: 35076986

Variant Present in the following documents:

• Main text
• PCMR-35-268.pdf

View BVdb publication page

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Sjogren's Syndrome: Recent Updates.

Journal Of Clinical Medicine

Skarlis, Charalampos C; Raftopoulou, Sylvia S; Mavragani, Clio P CP

Publication Date: 2022-01-13

Variant appearance in text: rs2229765

PubMed Link: 35054094

Variant Present in the following documents:

• Main text
• jcm-11-00399.pdf

View BVdb publication page

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Sjogren's Syndrome: Recent Updates.

Journal Of Clinical Medicine

Skarlis, Charalampos C; Raftopoulou, Sylvia S; Mavragani, Clio P CP

Publication Date: 2022-01-13

Variant appearance in text: rs2229765

PubMed Link: 35054094

Variant Present in the following documents:

• Main text
• jcm-11-00399.pdf

View BVdb publication page

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Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions.

Molecular Oncology

Ottaiano, Alessandro A; Circelli, Luisa L; Santorsola, Mariachiara M; Savarese, Giovanni G; Fontanella, Daniela D; Gigantino, Valerio V; Di Mauro, Annabella A; Capuozzo, Maurizio M; Zappavigna, Silvia S; Lombardi, Angela A; Perri, Francesco F; Cascella, Marco M; Granata, Vincenza V; Capuozzo, Maurizio M; Nasti, Guglielmo G; Caraglia, Michele M

Publication Date: 2021-10-20

Variant appearance in text: IGF1R: 3129G>A; rs2229765

PubMed Link: 34668636

Variant Present in the following documents:

• Main text
• MOL2-16-319.pdf

View BVdb publication page

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Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions.

Molecular Oncology

Ottaiano, Alessandro A; Circelli, Luisa L; Santorsola, Mariachiara M; Savarese, Giovanni G; Fontanella, Daniela D; Gigantino, Valerio V; Di Mauro, Annabella A; Capuozzo, Maurizio M; Zappavigna, Silvia S; Lombardi, Angela A; Perri, Francesco F; Cascella, Marco M; Granata, Vincenza V; Capuozzo, Maurizio M; Nasti, Guglielmo G; Caraglia, Michele M

Publication Date: 2022-01

Variant appearance in text: IGF1R: 3129G>A; rs2229765

PubMed Link: 34668636

Variant Present in the following documents:

• Main text
• MOL2-16-319.pdf

View BVdb publication page

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Comparisons of +3179G/A insulin-like growth factor 1 receptor gene distribution between two inflammatory arthritides and healthy adults.

Archives Of Rheumatology

Ivanova, Mariana M; Manolova, Irena I; Stoilov, Rumen R; Stanilova, Spaska S

Publication Date: 2021-06

Variant appearance in text: rs2229765

PubMed Link: 34527927

Variant Present in the following documents:

• Main text

View BVdb publication page

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+3179G/A Insulin-Like Growth Factor-1 Receptor Polymorphism: A Novel Susceptibility Contributor in Anti-Ro/SSA Positive Patients with Sjögren's Syndrome: Potential Clinical and Pathogenetic Implications.

Journal Of Clinical Medicine

Skarlis, Charalampos C; Marketos, Nikolaos N; Nezos, Adrianos A; Papanikolaou, Asimina A; Voulgarelis, Michael M; Koutsilieris, Michael M; Moutsopoulos, Haralampos M HM; Mavragani, Clio P CP

Publication Date: 2021-08-31

Variant appearance in text: rs2229765

PubMed Link: 34501407

Variant Present in the following documents:

• Main text
• jcm-10-03960.pdf

View BVdb publication page

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Insulin-Like Growth Factor 1 (IGF-1) Signaling in Glucose Metabolism in Colorectal Cancer.

International Journal Of Molecular Sciences

Kasprzak, Aldona A

Publication Date: 2021-06-16

Variant appearance in text: rs2229765

PubMed Link: 34208601

Variant Present in the following documents:

• Main text
• ijms-22-06434.pdf

View BVdb publication page

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Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes.

Npj Genomic Medicine

Bhattacharjee, Esha E; Maitra, Arindam A

Publication Date: 2021-06-08

Variant appearance in text: rs2229765

PubMed Link: 34103530

Variant Present in the following documents:

• Main text
• 41525_2021_Article_209.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: IGF1R: 3129G>A; E1043E; rs2229765

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: IGF1R: Glu1043Glu; rs2229765

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: IGF1R: 3129G>A; Glu1043Glu; rs2229765

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma.

Carcinogenesis

Dighe, Shruti G SG; Chen, Jianhong J; Yan, Li L; He, Qianchuan Q; Gharahkhani, Puya P; Onstad, Lynn L; Levine, David M DM; Palles, Claire C; Ye, Weimin W; Gammon, Marilie D MD; Iyer, Prasad G PG; Anderson, Lesley A LA; Liu, Geoffrey G; Wu, Anna H AH; Dai, James Y JY; Chow, Wong-Ho WH; Risch, Harvey A HA; Lagergren, Jesper J; Shaheen, Nicholas J NJ; Bernstein, Leslie L; Corley, Douglas A DA; Prenen, Hans H; deCaestecker, John J; MacDonald, David D; Moayyedi, Paul P; Barr, Hugh H; Love, Sharon B SB; Chegwidden, Laura L; Attwood, Stephen S; Watson, Peter P; Harrison, Rebecca R; Ott, Katja K; Moebus, Susanne S; Venerito, Marino M; Lang, Hauke H; Mayershofer, Rupert R; Knapp, Michael M; Veits, Lothar L; Gerges, Christian C; Weismüller, Josef J; Gockel, Ines I; Vashist, Yogesh Y; Nöthen, Markus M MM; Izbicki, Jakob R JR; Manner, Hendrik H; Neuhaus, Horst H; Rösch, Thomas T; Böhmer, Anne C AC; Hölscher, Arnulf H AH; Anders, Mario M; Pech, Oliver O; Schumacher, Brigitte B; Schmidt, Claudia C; Schmidt, Thomas T; Noder, Tania T; Lorenz, Dietmar D; Vieth, Michael M; May, Andrea A; Hess, Timo T; Kreuser, Nicole N; Becker, Jessica J; Ell, Christian C; Ambrosone, Christine B CB; Moysich, Kirsten B KB; MacGregor, Stuart S; Tomlinson, Ian I; Whiteman, David C DC; Jankowski, Janusz J; Schumacher, Johannes J; Vaughan, Thomas L TL; Madeleine, Margaret M MM; Hardie, Laura J LJ; Buas, Matthew F MF

Publication Date: 2021-04-17

Variant appearance in text: rs2229765

PubMed Link: 33300568

Variant Present in the following documents:

• Main text

View BVdb publication page

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IGF Bioregulation System in Benign and Malignant Thyroid Nodular Disease: A Systematic Review.

In Vivo (Athens, Greece)

Karagiannis, Apostolos A; Kassi, Eva E; Chatzigeorgiou, Antonios A; Koutsilieris, Michael M

Publication Date: 2020

Variant appearance in text: IGFR: Glu1043Glu; rs2229765

PubMed Link: 33144411

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of High-Order Single-Nucleotide Polymorphism Barcodes in Breast Cancer Using a Hybrid Taguchi-Genetic Algorithm: Case-Control Study.

Jmir Medical Informatics

Chuang, Li-Yeh LY; Yang, Cheng-San CS; Yang, Huai-Shuo HS; Yang, Cheng-Hong CH

Publication Date: 2020-06-17

Variant appearance in text: rs2229765

PubMed Link: 32554381

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2229765

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: IGF1R: 3129G>A; Glu1043=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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A Possible Link of Genetic Variations in ER/IGF1R Pathway and Risk of Melanoma.

International Journal Of Molecular Sciences

Yuan, Tze-An TA; Yourk, Vandy V; Farhat, Ali A; Guo, Katherine L KL; Garcia, Angela A; Meyskens, Frank L FL; Liu-Smith, Feng F

Publication Date: 2020-03-05

Variant appearance in text: rs2229765

PubMed Link: 32150843

Variant Present in the following documents:

• Main text
• ijms-21-01776.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: IGF1R: 3129G>A; Glu1043=; rs2229765

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: IGF1R: E1043E; rs2229765

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: IGF1R: 3129G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: IGF1R: 3129G>A; Glu1043Glu; rs2229765

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: IGF1R: 3129G>A; rs2229765

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing reveals genetic variants associated with sensitivity of 79 human cancer xenografts to anticancer drugs.

Experimental And Therapeutic Medicine

Udagawa, Chihiro C; Sasaki, Yasushi Y; Suemizu, Hiroshi H; Ohnishi, Yasuyuki Y; Ohnishi, Hiroshi H; Tokino, Takashi T; Zembutsu, Hitoshi H

Publication Date: 2018-02

Variant appearance in text: rs2229765

PubMed Link: 29434720

Variant Present in the following documents:

• Main text
• etm-15-02-1339.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: IGF1R: E1043E; rs2229765

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Discovery of targetable genetic alterations in advanced non-small cell lung cancer using a next-generation sequencing-based circulating tumor DNA assay.

Scientific Reports

Hou, Helei H; Yang, Xiaonan X; Zhang, Jinping J; Zhang, Zhe Z; Xu, Xiaomei X; Zhang, Xiaoping X; Zhang, Chuantao C; Liu, Dong D; Yan, Weihua W; Zhou, Na N; Zhu, Hongmei H; Qian, Zhaoyang Z; Li, Zhuokun Z; Zhang, Xiaochun X

Publication Date: 2017-11-06

Variant appearance in text: IGF1R: 3129G>A

PubMed Link: 29097733

Variant Present in the following documents:

• 41598_2017_14962_MOESM1_ESM.pdf

View BVdb publication page

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Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium.

British Journal Of Cancer

Lophatananon, Artitaya A; Stewart-Brown, Sarah S; Kote-Jarai, Zsofia Z; Olama, Ali Amin Al AAA; Garcia, Sara Benlloch SB; Neal, David E DE; Hamdy, Freddie C FC; Donovan, Jenny L JL; Giles, Graham G GG; Fitzgerald, Liesel M LM; Southey, Melissa C MC; Pharoah, Paul P; Pashayan, Nora N; Gronberg, Henrik H; Wiklund, Fredrik F; Aly, Markus M; Stanford, Janet L JL; Brenner, Hermann H; Dieffenbach, Aida K AK; Arndt, Volker V; Park, Jong Y JY; Lin, Hui-Yi HY; Sellers, Thomas T; Slavov, Chavdar C; Kaneva, Radka R; Mitev, Vanio V; Batra, Jyotsna J; Spurdle, Amanda A; Clements, Judith A JA; , ; , ; Easton, Douglas D; Eeles, Rosalind A RA; Muir, Kenneth K

Publication Date: 2017-08-22

Variant appearance in text: rs2229765

PubMed Link: 28765617

Variant Present in the following documents:

• Main text
• bjc2017231a.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2229765

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: IGF1R: E1043E; rs2229765

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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Maternal IGF1 and IGF1R polymorphisms and the risk of spontaneous preterm birth.

Journal Of Clinical Laboratory Analysis

He, Jian-Rong JR; Lai, Yu-Mian YM; Liu, Hui-Hui HH; Liu, Guang-Jian GJ; Li, Wei-Dong WD; Fan, Xue-Jiao XJ; Wei, Xue-Ling XL; Xia, Xiao-Yan XY; Kuang, Ya-Shu YS; Liu, Xiao-Dan XD; Chen, Nian-Nian NN; Lu, Jin-Hua JH; Chen, Qiao-Zhu QZ; Mai, Wei-Bi WB; Xia, Hui-Min HM; Qiu, Xiu X

Publication Date: 2017-11

Variant appearance in text: rs2229765

PubMed Link: 28213921

Variant Present in the following documents:

• Main text

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Association study between growth hormone receptor (GHR ) gene polymorphisms and obesity in Korean population.

Journal Of Exercise Rehabilitation

Yang, Seung-Ae SA

Publication Date: 2016-12

Variant appearance in text: rs2229765

PubMed Link: 28119888

Variant Present in the following documents:

• Main text

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Brain insulin resistance deteriorates cognition by altering the topological features of brain networks.

Neuroimage. Clinical

Su, Fan F; Shu, Hao H; Ye, Qing Q; Wang, Zan Z; Xie, Chunming C; Yuan, Baoyu B; Zhang, Zhijun Z; Bai, Feng F

Publication Date: 2017

Variant appearance in text: rs2229765

PubMed Link: 28050343

Variant Present in the following documents:

• Main text
• main.pdf

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Genetic susceptibility to Barrett's oesophagus: Lessons from early studies.

United European Gastroenterology Journal

Findlay, John M JM; Middleton, Mark R MR; Tomlinson, Ian I

Publication Date: 2016-08

Variant appearance in text: rs2229765

PubMed Link: 27536357

Variant Present in the following documents:

• Main text
• 10.1177_2050640615611018.pdf

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: IGF1R: E1043E; rs2229765

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 2

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Insulin-like growth factor-1 signaling in renal cell carcinoma.

Bmc Cancer

Tracz, Adam F AF; Szczylik, Cezary C; Porta, Camillo C; Czarnecka, Anna M AM

Publication Date: 2016-07-12

Variant appearance in text: rs2229765

PubMed Link: 27405474

Variant Present in the following documents:

• Main text

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Polymorphisms of Insulin-Like Growth Factor 1 Pathway Genes and Breast Cancer Risk.

Frontiers In Oncology

Shi, Joy J; Aronson, Kristan J KJ; Grundy, Anne A; Kobayashi, Lindsay C LC; Burstyn, Igor I; Schuetz, Johanna M JM; Lohrisch, Caroline A CA; SenGupta, Sandip K SK; Lai, Agnes S AS; Brooks-Wilson, Angela A; Spinelli, John J JJ; Richardson, Harriet H

Publication Date: 2016

Variant appearance in text: rs2229765

PubMed Link: 27376028

Variant Present in the following documents:

• Main text

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The Clinical Significance of the Insulin-Like Growth Factor-1 Receptor Polymorphism in Non-Small-Cell Lung Cancer with Epidermal Growth Factor Receptor Mutation.

International Journal Of Molecular Sciences

Liu, Tu-Chen TC; Hsieh, Ming-Ju MJ; Liu, Ming-Che MC; Chiang, Whei-Ling WL; Tsao, Thomas Chang-Yao TC; Yang, Shun-Fa SF

Publication Date: 2016-05-18

Variant appearance in text: rs2229765

PubMed Link: 27213344

Variant Present in the following documents:

• Main text

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