Publications:

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Causal relationship between type 1 diabetes mellitus and six high-frequency infectious diseases: A two-sample mendelian randomization study.

Frontiers In Endocrinology

Chen, Xiao-Hong XH; Liu, Hong-Qiong HQ; Nie, Qiong Q; Wang, Han H; Xiang, Tao T

Publication Date: 2023

Variant appearance in text: rs1131017

PubMed Link: 37065754

Variant Present in the following documents:

• Main text
• fendo-14-1135726.pdf

View BVdb publication page

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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: RPS26: -22C>G; rs1131017

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Whole genome DNA and RNA sequencing of whole blood elucidates the genetic architecture of gene expression underlying a wide range of diseases.

Scientific Reports

Liu, Chunyu C; Joehanes, Roby R; Ma, Jiantao J; Wang, Yuxuan Y; Sun, Xianbang X; Keshawarz, Amena A; Sooda, Meera M; Huan, Tianxiao T; Hwang, Shih-Jen SJ; Bui, Helena H; Tejada, Brandon B; Munson, Peter J PJ; Demirkale, Cumhur Y CY; Heard-Costa, Nancy L NL; Pitsillides, Achilleas N AN; Peloso, Gina M GM; Feolo, Michael M; Sharopova, Nataliya N; Vasan, Ramachandran S RS; Levy, Daniel D

Publication Date: 2022-11-23

Variant appearance in text: rs1131017

PubMed Link: 36424512

Variant Present in the following documents:

• Main text
• 41598_2022_Article_24611.pdf

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: RPS26: -22C>G; rs1131017

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

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: RPS26: -22C>G; rs1131017

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: rs1131017

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_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: rs1131017

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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Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration.

Nature Communications

Senabouth, Anne A; Daniszewski, Maciej M; Lidgerwood, Grace E GE; Liang, Helena H HH; Hernández, Damián D; Mirzaei, Mehdi M; Keenan, Stacey N SN; Zhang, Ran R; Han, Xikun X; Neavin, Drew D; Rooney, Louise L; Lopez Sanchez, Maria Isabel G MIG; Gulluyan, Lerna L; Paulo, Joao A JA; Clarke, Linda L; Kearns, Lisa S LS; Gnanasambandapillai, Vikkitharan V; Chan, Chia-Ling CL; Nguyen, Uyen U; Steinmann, Angela M AM; McCloy, Rachael A RA; Farbehi, Nona N; Gupta, Vivek K VK; Mackey, David A DA; Bylsma, Guy G; Verma, Nitin N; MacGregor, Stuart S; Watt, Matthew J MJ; Guymer, Robyn H RH; Powell, Joseph E JE; Hewitt, Alex W AW; Pébay, Alice A

Publication Date: 2022-07-26

Variant appearance in text: rs1131017

PubMed Link: 35882847

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single-cell RNA-sequencing of peripheral blood mononuclear cells reveals widespread, context-specific gene expression regulation upon pathogenic exposure.

Nature Communications

Oelen, Roy R; de Vries, Dylan H DH; Brugge, Harm H; Gordon, M Grace MG; Vochteloo, Martijn M; , ; , ; Ye, Chun J CJ; Westra, Harm-Jan HJ; Franke, Lude L; van der Wijst, Monique G P MGP

Publication Date: 2022-06-07

Variant appearance in text: rs1131017

PubMed Link: 35672358

Variant Present in the following documents:

• Main text
• 41467_2022_Article_30893.pdf

View BVdb publication page

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Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases.

Research Square

Liu, Chunyu C; Joehanes, Roby R; Ma, Jiantao J; Wang, Yuxuan Y; Sun, Xianbang X; Keshawarz, Amena A; Sooda, Meera M; Huan, Tianxiao T; Hwang, Shih-Jen SJ; Bui, Helena H; Tejada, Brandon B; Munson, Peter J PJ; Cumhur, Demirkale D; Heard-Costa, Nancy L NL; Pitsillides, Achilleas N AN; Peloso, Gina M GM; Feolo, Michael M; Sharopova, Nataliya N; Vasan, Ramachandran S RS; Levy, Daniel D

Publication Date: 2022-05-31

Variant appearance in text: rs1131017

PubMed Link: 35664994

Variant Present in the following documents:

• nihpp-rs1598646v1.pdf

View BVdb publication page

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Translational Analysis of Moderate to Severe Asthma GWAS Signals Into Candidate Causal Genes and Their Functional, Tissue-Dependent and Disease-Related Associations.

Frontiers In Allergy

Portelli, Michael A MA; Rakkar, Kamini K; Hu, Sile S; Guo, Yike Y; Adcock, Ian M IM; Sayers, Ian I

Publication Date: 2021

Variant appearance in text: rs1131017

PubMed Link: 35386986

Variant Present in the following documents:

• Main text
• falgy-02-738741.pdf

View BVdb publication page

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Non-Causal Effects of Asthma on COVID-19 Susceptibility and Severity.

Frontiers In Genetics

Qiu, Li-Juan LJ; Yin, Kang-Jia KJ; Pan, Gui-Xia GX; Ni, Jing J; Wang, Bin B

Publication Date: 2021

Variant appearance in text: rs1131017

PubMed Link: 35082829

Variant Present in the following documents:

• Main text
• fgene-12-762697.pdf

View BVdb publication page

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Mendelian Randomization Analysis Identified Potential Genes Pleiotropically Associated with Polycystic Ovary Syndrome.

Reproductive Sciences (Thousand Oaks, Calif.)

Sun, Qian Q; Gao, Yuan Y; Yang, Jingyun J; Lu, Jiayi J; Feng, Wen W; Yang, Wen W

Publication Date: 2021-10-26

Variant appearance in text: rs1131017

PubMed Link: 34704236

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mendelian Randomization Analysis Identified Potential Genes Pleiotropically Associated with Polycystic Ovary Syndrome.

Reproductive Sciences (Thousand Oaks, Calif.)

Sun, Qian Q; Gao, Yuan Y; Yang, Jingyun J; Lu, Jiayi J; Feng, Wen W; Yang, Wen W

Publication Date: 2022-03

Variant appearance in text: rs1131017

PubMed Link: 34704236

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-Wide Association Study of Korean Asthmatics: A Comparison With UK Asthmatics.

Allergy, Asthma & Immunology Research

An, Jin J; Do, Ah Ra AR; Kang, Hae Yeon HY; Kim, Woo Jin WJ; Lee, Sanghun S; Lee, Ji Hyang JH; Song, Woo Jung WJ; Kwon, Hyouk Soo HS; Cho, You Sook YS; Moon, Hee Bom HB; Hu, Sile S; Adcock, Ian M IM; Chung, Kian Fan KF; Won, Sungho S; Kim, Tae Bum TB

Publication Date: 2021-07

Variant appearance in text: rs1131017

PubMed Link: 34212547

Variant Present in the following documents:

• aair-13-609.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: rs1131017

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: rs1131017

PubMed Link: 34127860

Variant Present in the following documents:

• EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14

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: RPS26: -22C>G; rs1131017

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: rs1131017

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrative Analysis of Omics Data Reveals Regulatory Network of CDK10 in Vitiligo Risk.

Frontiers In Genetics

Cai, Minglong M; Yuan, Tao T; Huang, He H; Gui, Lan L; Zhang, Li L; Meng, Ziyuan Z; Wu, Wenjuan W; Sheng, Yujun Y; Zhang, Xuejun X

Publication Date: 2021

Variant appearance in text: rs1131017

PubMed Link: 33679896

Variant Present in the following documents:

• Main text
• fgene-12-634553.pdf

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: rs1131017

PubMed Link: 33420045

Variant Present in the following documents:

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

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs1131017

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Neonatal genetics of gene expression reveal potential origins of autoimmune and allergic disease risk.

Nature Communications

Huang, Qin Qin QQ; Tang, Howard H F HHF; Teo, Shu Mei SM; Mok, Danny D; Ritchie, Scott C SC; Nath, Artika P AP; Brozynska, Marta M; Salim, Agus A; Bakshi, Andrew A; Holt, Barbara J BJ; Khor, Chiea Chuen CC; Sly, Peter D PD; Holt, Patrick G PG; Holt, Kathryn E KE; Inouye, Michael M

Publication Date: 2020-07-28

Variant appearance in text: rs1131017

PubMed Link: 32724101

Variant Present in the following documents:

• Main text
• 41467_2020_Article_17477.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: RPS26: -22C>G; rs1131017

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: RPS26: -22C>G; rs1131017

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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: RPS26: -22C>G; rs1131017

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: RPS26: -22C>G; rs1131017

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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Integrating genome-wide association and eQTLs studies identifies the genes associated with age at menarche and age at natural menopause.

Plos One

Wang, Gang G; Lv, Jian J; Qiu, Xiaoxin X; An, Yujun Y

Publication Date: 2019

Variant appearance in text: rs1131017

PubMed Link: 31206546

Variant Present in the following documents:

• Main text
• pone.0213953.pdf

View BVdb publication page

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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: RPS26: -22C>G; rs1131017

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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Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.

The Lancet. Respiratory Medicine

Shrine, Nick N; Portelli, Michael A MA; John, Catherine C; Soler Artigas, María M; Bennett, Neil N; Hall, Robert R; Lewis, Jon J; Henry, Amanda P AP; Billington, Charlotte K CK; Ahmad, Azaz A; Packer, Richard J RJ; Shaw, Dominick D; Pogson, Zara E K ZEK; Fogarty, Andrew A; McKeever, Tricia M TM; Singapuri, Amisha A; Heaney, Liam G LG; Mansur, Adel H AH; Chaudhuri, Rekha R; Thomson, Neil C NC; Holloway, John W JW; Lockett, Gabrielle A GA; Howarth, Peter H PH; Djukanovic, Ratko R; Hankinson, Jenny J; Niven, Robert R; Simpson, Angela A; Chung, Kian Fan KF; Sterk, Peter J PJ; Blakey, John D JD; Adcock, Ian M IM; Hu, Sile S; Guo, Yike Y; Obeidat, Maen M; Sin, Don D DD; van den Berge, Maarten M; Nickle, David C DC; Bossé, Yohan Y; Tobin, Martin D MD; Hall, Ian P IP; Brightling, Christopher E CE; Wain, Louise V LV; Sayers, Ian I

Publication Date: 2019-01

Variant appearance in text: rs1131017

PubMed Link: 30552067

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exploring the Impact of Single-Nucleotide Polymorphisms on Translation.

Frontiers In Genetics

Robert, Francis F; Pelletier, Jerry J

Publication Date: 2018

Variant appearance in text: rs1131017

PubMed Link: 30425729

Variant Present in the following documents:

• Main text
• fgene-09-00507.pdf

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: RPS26: -22C>G; rs1131017

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome.

Scientific Reports

Fung, Jenny N JN; Mortlock, Sally S; Girling, Jane E JE; Holdsworth-Carson, Sarah J SJ; Teh, Wan Tinn WT; Zhu, Zhihong Z; Lukowski, Samuel W SW; McKinnon, Brett D BD; McRae, Allan A; Yang, Jian J; Healey, Martin M; Powell, Joseph E JE; Rogers, Peter A W PAW; Montgomery, Grant W GW

Publication Date: 2018-07-30

Variant appearance in text: rs1131017

PubMed Link: 30061686

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29462.pdf

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: RPS26: -22C>G; rs1131017

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

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: rs1131017

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells.

Plos Genetics

Kasela, Silva S; Kisand, Kai K; Tserel, Liina L; Kaleviste, Epp E; Remm, Anu A; Fischer, Krista K; Esko, Tõnu T; Westra, Harm-Jan HJ; Fairfax, Benjamin P BP; Makino, Seiko S; Knight, Julian C JC; Franke, Lude L; Metspalu, Andres A; Peterson, Pärt P; Milani, Lili L

Publication Date: 2017-03

Variant appearance in text: rs1131017

PubMed Link: 28248954

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-coding single nucleotide variants affecting estrogen receptor binding and activity.

Genome Medicine

Bahreini, Amir A; Levine, Kevin K; Santana-Santos, Lucas L; Benos, Panayiotis V PV; Wang, Peilu P; Andersen, Courtney C; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2016-12-13

Variant appearance in text: rs1131017

PubMed Link: 27964748

Variant Present in the following documents:

• Main text
• 13073_2016_Article_382.pdf

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: rs1131017

PubMed Link: 26549847

Variant Present in the following documents:

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

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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: rs1131017

PubMed Link: 25944692

Variant Present in the following documents:

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

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Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs.

Bmc Genomics

Zhang, Xiaoling X; Gierman, Hinco J HJ; Levy, Daniel D; Plump, Andrew A; Dobrin, Radu R; Goring, Harald H H HH; Curran, Joanne E JE; Johnson, Matthew P MP; Blangero, John J; Kim, Stuart K SK; O'Donnell, Christopher J CJ; Emilsson, Valur V; Johnson, Andrew D AD

Publication Date: 2014-06-27

Variant appearance in text: rs1131017

PubMed Link: 24973796

Variant Present in the following documents:

• Main text
• 12864_2013_Article_6258.pdf

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs1131017

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity.

Diabetes

Keildson, Sarah S; Fadista, Joao J; Ladenvall, Claes C; Hedman, Åsa K ÅK; Elgzyri, Targ T; Small, Kerrin S KS; Grundberg, Elin E; Nica, Alexandra C AC; Glass, Daniel D; Richards, J Brent JB; Barrett, Amy A; Nisbet, James J; Zheng, Hou-Feng HF; Rönn, Tina T; Ström, Kristoffer K; Eriksson, Karl-Fredrik KF; Prokopenko, Inga I; , ; , ; , ; Spector, Timothy D TD; Dermitzakis, Emmanouil T ET; Deloukas, Panos P; McCarthy, Mark I MI; Rung, Johan J; Groop, Leif L; Franks, Paul W PW; Lindgren, Cecilia M CM; Hansson, Ola O

Publication Date: 2014-03

Variant appearance in text: rs1131017

PubMed Link: 24306210

Variant Present in the following documents:

• supp_db13-1301_DB131301SupplementaryData.pdf

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Genome-wide search for exonic variants affecting translational efficiency.

Nature Communications

Li, Quan Q; Makri, Angeliki A; Lu, Yang Y; Marchand, Luc L; Grabs, Rosemarie R; Rousseau, Marylene M; Ounissi-Benkalha, Houria H; Pelletier, Jerry J; Robert, Francis F; Harmsen, Eef E; Hudson, Thomas J TJ; Pastinen, Tomi T; Polychronakos, Constantin C; Qu, Hui-Qi HQ

Publication Date: 2013

Variant appearance in text: rs1131017

PubMed Link: 23900168

Variant Present in the following documents:

• Main text
• nihms-502763.pdf

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Evidence for two independent associations with type 1 diabetes at the 12q13 locus.

Genes And Immunity

Keene, K L KL; Quinlan, A R AR; Hou, X X; Hall, I M IM; Mychaleckyj, J C JC; Onengut-Gumuscu, S S; Concannon, P P

Publication Date: 2012-01

Variant appearance in text: rs1131017

PubMed Link: 21850031

Variant Present in the following documents:

• Main text
• nihms352868.pdf

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Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk.

Plos One

Wang, Hongjie H; Jin, Yulan Y; Reddy, M V Prasad Linga MV; Podolsky, Robert R; Liu, Siyang S; Yang, Ping P; Bode, Bruce B; Reed, John Chip JC; Steed, R Dennis RD; Anderson, Stephen W SW; Steed, Leigh L; Hopkins, Diane D; Huang, Yihua Y; She, Jin-Xiong JX

Publication Date: 2010-07-26

Variant appearance in text: rs1131017

PubMed Link: 20668683

Variant Present in the following documents:

• Main text
• pone.0011789.pdf

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Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13.

Biostatistics (Oxford, England)

Plagnol, Vincent V; Smyth, Deborah J DJ; Todd, John A JA; Clayton, David G DG

Publication Date: 2009-04

Variant appearance in text: rs1131017

PubMed Link: 19039033

Variant Present in the following documents:

• Main text

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