Publications:

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2272037

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: rs2272037

PubMed Link: 36432658

Variant Present in the following documents:

• Main text
• pharmaceutics-14-02468.pdf

View BVdb publication page

---

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: 1590-20T>C; rs2272037

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

---

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: 1590-20T>C; rs2272037

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: rs2272037

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: 1590-20T>C; rs2272037

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs2272037

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

---

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs2272037

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1590-20T>C; rs2272037

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

---

Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies

Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE

Publication Date: 2018-04

Variant appearance in text: IGF1R: 1590-20T>C; rs2272037

PubMed Link: 29449315

Variant Present in the following documents:

• supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1

View BVdb publication page

---

Growth hormone insensitivity: Mexican case report.

Endocrinology, Diabetes & Metabolism Case Reports

Castilla-Cortazar, I I; De Ita, J R JR; Aguirre, G A GA; García-Magariño, M M; Martín-Estal, I I; Lara-Diaz, V J VJ; Elizondo, M I MI

Publication Date: 2017

Variant appearance in text: IGF1R: 1590-20T>C; rs2272037

PubMed Link: 29147569

Variant Present in the following documents:

• Main text
• edmcr-2017-170126.pdf

View BVdb publication page

---

Targeted neurogenesis pathway-based gene analysis identifies ADORA2A associated with hippocampal volume in mild cognitive impairment and Alzheimer's disease.

Neurobiology Of Aging

Horgusluoglu-Moloch, Emrin E; Nho, Kwangsik K; Risacher, Shannon L SL; Kim, Sungeun S; Foroud, Tatiana T; Shaw, Leslie M LM; Trojanowski, John Q JQ; Aisen, Paul S PS; Petersen, Ronald C RC; Jack, Clifford R CR; Lovestone, Simon S; Simmons, Andrew A; Weiner, Michael W MW; Saykin, Andrew J AJ; ,

Publication Date: 2017-12

Variant appearance in text: rs2272037

PubMed Link: 28941407

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs2272037

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

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: rs2272037

PubMed Link: 27405474

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2437.pdf

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2272037

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

---

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs2272037

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---

Genetic variants of EGF and VEGF predict prognosis of patients with advanced esophageal squamous cell carcinoma.

Plos One

Yang, Pei-Wen PW; Hsieh, Min-Shu MS; Huang, Ya-Chuan YC; Hsieh, Ching-Yueh CY; Chiang, Tzu-Hsuan TH; Lee, Jang-Ming JM

Publication Date: 2014

Variant appearance in text: rs2272037

PubMed Link: 24945674

Variant Present in the following documents:

• Main text
• pone.0100326.pdf

View BVdb publication page

---

Germline polymorphisms in genes involved in the IGF1 pathway predict efficacy of cetuximab in wild-type KRAS mCRC patients.

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

Winder, Thomas T; Zhang, Wu W; Yang, Dongyun D; Ning, Yan Y; Bohanes, Pierre P; Gerger, Armin A; Wilson, Peter M PM; Pohl, Alexandra A; Mauro, David J DJ; Langer, Christiane C; Rowinsky, Eric K EK; Lenz, Heinz-Josef HJ

Publication Date: 2010-11-15

Variant appearance in text: rs2272037

PubMed Link: 20935157

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density.

Bmc Medical Genomics

Biong, Margarethe M; Gram, Inger T IT; Brill, Ilene I; Johansen, Fredrik F; Solvang, Hiroko K HK; Alnaes, Grethe I G GI; Fagerheim, Toril T; Bremnes, Yngve Y; Chanock, Stephen J SJ; Burdett, Laurie L; Yeager, Meredith M; Ursin, Giske G; Kristensen, Vessela N VN

Publication Date: 2010-03-19

Variant appearance in text: rs2272037

PubMed Link: 20302654

Variant Present in the following documents:

• Main text
• 1755-8794-3-9.pdf

View BVdb publication page

---

Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs2272037

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

---

Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity.

Aging Cell

Pawlikowska, Ludmila L; Hu, Donglei D; Huntsman, Scott S; Sung, Andrew A; Chu, Catherine C; Chen, Justin J; Joyner, Alexander H AH; Schork, Nicholas J NJ; Hsueh, Wen-Chi WC; Reiner, Alexander P AP; Psaty, Bruce M BM; Atzmon, Gil G; Barzilai, Nir N; Cummings, Steven R SR; Browner, Warren S WS; Kwok, Pui-Yan PY; Ziv, Elad E; ,

Publication Date: 2009-08

Variant appearance in text: rs2272037

PubMed Link: 19489743

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic variation in insulin-like growth factors and brain tumor risk.

Neuro-Oncology

Lönn, Stefan S; Rothman, Nathaniel N; Shapiro, William R WR; Fine, Howard A HA; Selker, Robert G RG; Black, Peter M PM; Loeffler, Jay S JS; Hutchinson, Amy A AA; Inskip, Peter D PD

Publication Date: 2008-08

Variant appearance in text: rs2272037

PubMed Link: 18562769

Variant Present in the following documents:

• Main text

View BVdb publication page

---