Publications:

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs3194051

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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<i>IL7RA</i> single nucleotide polymorphisms are associated with the size and function of the MAIT cell population in treated HIV-1 infection.

Frontiers In Immunology

Han, Fei F; Gulam, Muhammad Yaaseen MY; Zheng, Yichao Y; Zulhaimi, Nurul Syuhada NS; Sia, Wan Rong WR; He, Dan D; Ho, Amanda A; Hadadi, Leila L; Liu, Zhenyu Z; Qin, Peiwu P; Lobie, Peter E PE; Kamarulzaman, Adeeba A; Wang, Lin-Fa LF; Sandberg, Johan K JK; Lewin, Sharon R SR; Rajasuriar, Reena R; Leeansyah, Edwin E

Publication Date: 2022

Variant appearance in text: rs3194051

PubMed Link: 36341446

Variant Present in the following documents:

• Main text
• fimmu-13-985385.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: IL7R: 1066A>G; Ile356Val; rs3194051

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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: IL7R: I356V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

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: IL7R: I356V

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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IL-7/IL7R axis dysfunction in adults with severe community-acquired pneumonia (CAP): a cross-sectional study.

Scientific Reports

Ampuero, Sandra S; Bahamonde, Guillermo G; Tempio, Fabián F; Garmendia, María Luisa ML; Ruiz, Mauricio M; Pizarro, Rolando R; Rossi, Patricio P; Huenchur, Lucía L; Lizama, Luis L; López, Mercedes M; Avendaño, Luis F LF; Luchsinger, Vivian V

Publication Date: 2022-07-30

Variant appearance in text: IL7R: Ile356Val; rs3194051

PubMed Link: 35907923

Variant Present in the following documents:

• Main text
• 41598_2022_Article_13063.pdf

View BVdb publication page

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Transcriptome-Wide m6A Methylome and m6A-Modified Gene Analysis in Asthma.

Frontiers In Cell And Developmental Biology

Sun, Deyang D; Cai, Xiaolu X; Shen, Fenglin F; Fan, Liming L; Yang, Huan H; Zheng, Suqun S; Zhou, Linshui L; Chen, Ke K; Wang, Zhen Z

Publication Date: 2022

Variant appearance in text: rs3194051

PubMed Link: 35712670

Variant Present in the following documents:

• Main text
• fcell-10-799459.pdf

View BVdb publication page

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Gauging the role and impact of drug interactions and repurposing in neurodegenerative disorders.

Current Research In Pharmacology And Drug Discovery

Khatri, Dharmendra Kumar DK; Kadbhane, Amey A; Patel, Monica M; Nene, Shweta S; Atmakuri, Srividya S; Srivastava, Saurabh S; Singh, Shashi Bala SB

Publication Date: 2021

Variant appearance in text: rs3194051

PubMed Link: 34909657

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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m6A regulator-mediated RNA methylation modification patterns and immune microenvironment infiltration characterization in severe asthma.

Journal Of Cellular And Molecular Medicine

Sun, Deyang D; Yang, Huan H; Fan, Liming L; Shen, Fenglin F; Wang, Zhen Z

Publication Date: 2021-11

Variant appearance in text: rs3194051

PubMed Link: 34647423

Variant Present in the following documents:

• Main text
• JCMM-25-10236.pdf

View BVdb publication page

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

View BVdb publication page

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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics

Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS

Publication Date: 2021-07

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

View BVdb publication page

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Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia

Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE

Publication Date: 2021-09

Variant appearance in text: IL7R: Ile356Val

PubMed Link: 33580203

Variant Present in the following documents:

• 41375_2021_1153_MOESM4_ESM.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: rs3194051

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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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 21
• CTM2-11-e285-s003.xlsx, sheet 17

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules.

Thoracic Cancer

Jiang, Ning N; Zhou, Jie J; Zhang, Wenhao W; Li, Peichao P; Liu, Yu Y; Shi, Hubo H; Zhang, Chengke C; Wang, Yunshan Y; Zhou, Chengjun C; Peng, Chuanliang C; Zhang, Weiquan W; Hao, Yingtao Y; Sun, Qifeng Q; Li, Yuliang Y; Zhao, Xiaogang X

Publication Date: 2021-01

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 33200540

Variant Present in the following documents:

• TCA-12-181-s002.xlsx, sheet 1

View BVdb publication page

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A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

The Journal Of Experimental Medicine

Bonnard, Carine C; Navaratnam, Naveenan N; Ghosh, Kakaly K; Chan, Puck Wee PW; Tan, Thong Teck TT; Pomp, Oz O; Ng, Alvin Yu Jin AYJ; Tohari, Sumanty S; Changede, Rishita R; Carling, David D; Venkatesh, Byrappa B; Altunoglu, Umut U; Kayserili, Hülya H; Reversade, Bruno B

Publication Date: 2020-12-07

Variant appearance in text: IL7R: 1066A>G; Ile356Val; rs3194051

PubMed Link: 32845958

Variant Present in the following documents:

• JEM_20191561_TableS1.xlsx, sheet 3
• JEM_20191561_TableS1.xlsx, sheet 4

View BVdb publication page

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Association of rs12487066, rs12044852, rs10735781, rs3135388, rs6897932, rs1321172, rs10492972, and rs9657904 Polymorphisms with Multiple Sclerosis in Iranian Population.

Oman Medical Journal

Razavian, Takavar T; Shakib, Mahdieh Ebrahimi ME; Gharagozli, Kurosh K; Maghsoudi, Hossein H; Bidoki, Seyed Kazem SK; Sadeghi, Soha S; Houshmand, Massoud M

Publication Date: 2020-07

Variant appearance in text: rs3194051

PubMed Link: 32760600

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identifying the culprits in neurological autoimmune diseases.

Journal Of Translational Autoimmunity

Acosta-Ampudia, Yeny Y; Monsalve, Diana M DM; Ramírez-Santana, Carolina C

Publication Date: 2019-12

Variant appearance in text: rs3194051

PubMed Link: 32743503

Variant Present in the following documents:

• Main text

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: IL7R: 1066A>G; Ile356Val

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Association of Multiple Sclerosis Phenotypes with Single Nucleotide Polymorphisms of IL7R, LAG3, and CD40 Genes in a Jordanian Population: A Genotype-Phenotype Study.

Biomolecules

Al-Eitan, Laith L; Qudah, Malak Al MA; Qawasmeh, Majdi Al MA

Publication Date: 2020-02-26

Variant appearance in text: rs3194051

PubMed Link: 32111053

Variant Present in the following documents:

• Main text
• biomolecules-10-00356.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: IL7R: I356V

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Deleterious and Oncogenic Mutations in the IL7RA.

Cancers

Campos, Lívia Weijenborg LW; Pissinato, Leonardo Granato LG; Yunes, José Andrés JA

Publication Date: 2019-12-05

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 31817502

Variant Present in the following documents:

• Main text

View BVdb publication page

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IL-7/IL-7R gene variants impact circulating IL-7/IL-7R homeostasis and ART-associated immune recovery status.

Scientific Reports

Ceausu, Andra A; Rodríguez-Gallego, Esther E; Peraire, Joaquim J; López-Dupla, Miguel M; Domingo, Pere P; Viladés, Consuelo C; Vidal-Gonzalez, Judit J; Peraire, Maria M; Perpiñán, Carles C; Pacheco, Yolanda María YM; Veloso, Sergi S; Alba, Verónica V; Vargas, Montserrat M; Castellano, Alfonso J AJ; Ruiz-Mateos, Ezequiel E; Mallolas, Josep J; Vidal, Francesc F; Rull, Anna A

Publication Date: 2019-10-31

Variant appearance in text: rs3194051

PubMed Link: 31673011

Variant Present in the following documents:

• Main text
• 41598_2019_Article_52025.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: IL7R: 1066A>G; Ile356Val; rs3194051

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: IL7R: I356V; rs3194051

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.

Nature Communications

Katayama, Ryohei R; Gong, Bo B; Togashi, Noriko N; Miyamoto, Masaya M; Kiga, Masaki M; Iwasaki, Shiho S; Kamai, Yasuki Y; Tominaga, Yuichi Y; Takeda, Yasuyuki Y; Kagoshima, Yoshiko Y; Shimizu, Yuki Y; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Nakao, Naoki N; Hanzawa, Hiroyuki H; Watanabe, Kengo K; Yoda, Satoshi S; Yanagitani, Noriko N; Hata, Aaron N AN; Shaw, Alice T AT; Nishio, Makoto M; Fujita, Naoya N; Isoyama, Takeshi T

Publication Date: 2019-08-09

Variant appearance in text: IL7R: 1066A>G; Ile356Val; rs3194051

PubMed Link: 31399568

Variant Present in the following documents:

• 41467_2019_11496_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: IL7R: 1066A>G; Ile356Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

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: IL7R: 1066A>G; Ile356Val; rs3194051

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

---

Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics

,

Publication Date: 2018-11-27

Variant appearance in text: rs3194051

PubMed Link: 30482208

Variant Present in the following documents:

• 12920_2018_423_MOESM1_ESM.pdf

View BVdb publication page

---

Antiretroviral therapy immunologic non-response in a Brazilian population: association study using pharmaco- and immunogenetic markers.

The Brazilian Journal Of Infectious Diseases : An Official Publication Of The Brazilian Society Of Infectious Diseases

Coelho, Antonio V C AVC; Moura, Ronald R de RR; Guimarães, Rafael L RL; Brandão, Lucas A C LAC; Crovella, Sergio S

Publication Date: 2018

Variant appearance in text: rs3194051

PubMed Link: 30392849

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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: IL7R: 1066A>G; Ile356Val; rs3194051

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Tumorigenicity-associated characteristics of human iPS cell lines.

Plos One

Yasuda, Satoshi S; Kusakawa, Shinji S; Kuroda, Takuya T; Miura, Takumi T; Tano, Keiko K; Takada, Nozomi N; Matsuyama, Satoko S; Matsuyama, Akifumi A; Nasu, Michiyo M; Umezawa, Akihiro A; Hayakawa, Takao T; Tsutsumi, Hideki H; Sato, Yoji Y

Publication Date: 2018

Variant appearance in text: IL7R: I356V

PubMed Link: 30286143

Variant Present in the following documents:

• pone.0205022.s006.xlsx, sheet 1
• pone.0205022.s007.xlsx, sheet 1

View BVdb publication page

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The IL7RA rs6897932 polymorphism is associated with progression of liver fibrosis in patients with chronic hepatitis C: Repeated measurements design.

Plos One

Jiménez-Sousa, María Ángeles MÁ; Gómez-Moreno, Ana Zaida AZ; Pineda-Tenor, Daniel D; Medrano, Luz Maria LM; Sánchez-Ruano, Juan José JJ; Fernández-Rodríguez, Amanda A; Artaza-Varasa, Tomas T; Saura-Montalbán, José J; Vázquez-Morón, Sonia S; Ryan, Pablo P; Resino, Salvador S

Publication Date: 2018

Variant appearance in text: rs3194051

PubMed Link: 29742149

Variant Present in the following documents:

• Main text
• pone.0197115.pdf

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South-south collaboration on HIV/AIDS prevention and treatment research: when birds of a feather rarely flock together.

Globalization And Health

Fonseca, Bruna de Paula Fonseca E BPFE; Albuquerque, Priscila Costa PC; Noyons, Ed E; Zicker, Fabio F

Publication Date: 2018-03-01

Variant appearance in text: rs3194051

PubMed Link: 29490665

Variant Present in the following documents:

• 12992_2018_341_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Spatial Tissue Proteomics Quantifies Inter- and Intratumor Heterogeneity in Hepatocellular Carcinoma (HCC).

Molecular & Cellular Proteomics : Mcp

Buczak, Katarzyna K; Ori, Alessandro A; Kirkpatrick, Joanna M JM; Holzer, Kerstin K; Dauch, Daniel D; Roessler, Stephanie S; Endris, Volker V; Lasitschka, Felix F; Parca, Luca L; Schmidt, Alexander A; Zender, Lars L; Schirmacher, Peter P; Krijgsveld, Jeroen J; Singer, Stephan S; Beck, Martin M

Publication Date: 2018-04

Variant appearance in text: IL7R: Ile356Val; rs3194051

PubMed Link: 29363612

Variant Present in the following documents:

• supp_RA117.000189_4790_2_supp_58832_p2t92h.xlsx, sheet 1

View BVdb publication page

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Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies.

International Journal Of Molecular Medicine

Yamada, Yoshiji Y; Sakuma, Jun J; Takeuchi, Ichiro I; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Muramatsu, Masaaki M; Sawabe, Motoji M; Fujiwara, Yoshinori Y; Taniguchi, Yu Y; Obuchi, Shuichi S; Kawai, Hisashi H; Shinkai, Shoji S; Mori, Seijiro S; Arai, Tomio T; Tanaka, Masashi M

Publication Date: 2017-06

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 28487959

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in the IL7RA gene confer susceptibility to multiple sclerosis in Caucasians: evidence based on 9734 cases and 10436 controls.

Scientific Reports

Liu, Hong H; Huang, Jian J; Dou, Mengmeng M; Liu, Yong Y; Xiao, Biying B; Liu, Xu X; Huang, Zunnan Z

Publication Date: 2017-04-26

Variant appearance in text: rs3194051

PubMed Link: 28446795

Variant Present in the following documents:

• Main text
• 41598_2017_Article_1345.pdf

View BVdb publication page

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Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports

Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V

Publication Date: 2017-03-03

Variant appearance in text: IL7R: I356V

PubMed Link: 28256603

Variant Present in the following documents:

• srep42980-s2.xls, sheet 7

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: IL7R: I356V

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies

Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD

Publication Date: 2016-01

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 27148581

Variant Present in the following documents:

• supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1

View BVdb publication page

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Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Clinical Immunology (Orlando, Fla.)

Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY

Publication Date: 2016-02

Variant appearance in text: IL7R: 1066A>G; Ile356Val; rs3194051

PubMed Link: 26680607

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

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: rs3194051

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: IL7R: I356V; rs3194051

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

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Pharmacogenomics of estrogens on changes in carotid artery intima-medial thickness and coronary arterial calcification: Kronos Early Estrogen Prevention Study.

Physiological Genomics

Miller, Virginia M VM; Jenkins, Gregory D GD; Biernacka, Joanna M JM; Heit, John A JA; Huggins, Gordon S GS; Hodis, Howard N HN; Budoff, Matthew J MJ; Lobo, Rogerio A RA; Taylor, Hugh S HS; Manson, JoAnn E JE; Black, Dennis M DM; Naftolin, Frederick F; Harman, S Mitchell SM; de Andrade, Mariza M

Publication Date: 2016-01

Variant appearance in text: rs3194051

PubMed Link: 26508701

Variant Present in the following documents:

• Main text

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: IL7R: I356V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Association between IL7R polymorphisms and severe liver disease in HIV/HCV coinfected patients: a cross-sectional study.

Journal Of Translational Medicine

Guzmán-Fulgencio, María M; Berenguer, Juan J; Jiménez-Sousa, María A MA; Pineda-Tenor, Daniel D; Aldámiz-Echevarria, Teresa T; García-Broncano, Pilar P; Carrero, Ana A; García-Álvarez, Mónica M; Tejerina, Francisco F; Diez, Cristina C; Vazquez-Morón, Sonia S; Resino, Salvador S

Publication Date: 2015-06-30

Variant appearance in text: rs3194051

PubMed Link: 26123260

Variant Present in the following documents:

• Main text
• 12967_2015_Article_577.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs3194051

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: IL7R: I356V

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20

View BVdb publication page

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Integrated microRNA and mRNA transcriptome sequencing reveals the potential roles of miRNAs in stage I endometrioid endometrial carcinoma.

Plos One

Xiong, Hanzhen H; Li, Qiulian Q; Liu, Shaoyan S; Wang, Fang F; Xiong, Zhongtang Z; Chen, Juan J; Chen, Hui H; Yang, Yuexin Y; Tan, Xuexian X; Luo, Qiuping Q; Peng, Juan J; Xiao, Guohong G; Jiang, Qingping Q

Publication Date: 2014

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 25329664

Variant Present in the following documents:

• pone.0110163.s001.xlsx, sheet 1

View BVdb publication page

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Allele-specific methylation occurs at genetic variants associated with complex disease.

Plos One

Hutchinson, John N JN; Raj, Towfique T; Fagerness, Jes J; Stahl, Eli E; Viloria, Fernando T FT; Gimelbrant, Alexander A; Seddon, Johanna J; Daly, Mark M; Chess, Andrew A; Plenge, Robert R

Publication Date: 2014

Variant appearance in text: rs3194051

PubMed Link: 24911414

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression.

Neurogenetics

Traboulsee, Anthony L AL; Bernales, Cecily Q CQ; Ross, Jay P JP; Lee, Joshua D JD; Sadovnick, A Dessa AD; Vilariño-Güell, Carles C

Publication Date: 2014-08

Variant appearance in text: IL7R: I356V; rs3194051

PubMed Link: 24770783

Variant Present in the following documents:

• Main text

View BVdb publication page

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