Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs841718

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: rs841718

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Biomarkers associated with the development of comorbidities in patients with atopic dermatitis: a systematic review.

Allergy

Broderick, Conor C; Ziehfreund, Stefanie S; van Bart, Karin K; Arents, Bernd B; Eyerich, Kilian K; Weidinger, Stephan S; Rastrick, Joseph J; Zink, Alexander A; Flohr, Carsten C; ,

Publication Date: 2022-11-10

Variant appearance in text: rs841718

PubMed Link: 36366871

Variant Present in the following documents:

• Main text
• ALL-78-84.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: rs841718

PubMed Link: 36241656

Variant Present in the following documents:

• 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: rs841718

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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Genetic and Clinical Factors Associated with Opioid Response in Chinese Han Patients with Cancer Pain: An Exploratory Cross-Sectional Study.

Pain And Therapy

Shi, Chen C; Liu, Jinmei J; Hu, Jianli J; Chen, Xu X; Xie, Jiyi J; Luo, Juan J; Wang, Cong C; Wang, Hanxiang H; Yuan, Qi Q; Zhu, Haixia H; Gong, Weijing W; Li, Shijun S; Zhou, Hong H; Wang, Leiyun L; Wang, Hui H; Zhang, Yu Y

Publication Date: 2022-03

Variant appearance in text: rs841718

PubMed Link: 35107781

Variant Present in the following documents:

• Main text
• 40122_2022_Article_353.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: STAT6: 1891+81C>T; rs841718

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: STAT6: 1891+81C>T; rs841718

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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CYP2C19 and STAT6 Variants Influence the Outcome of Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis.

Journal Of Pediatric Gastroenterology And Nutrition

Mougey, Edward B EB; Williams, Andre A; Coyne, Ashlan J Kunz AJK; Gutiérrez-Junquera, Carolina C; Fernández-Fernández, Sonia S; Cilleruelo, Maria Luz ML; Rayo, Ana A; Echeverría, Luis L; Román, Enriqueta E; González Lois, Carmen C; Chao, Montserrat M; Al-Atrash, Hadeel H; Lima, John J JJ; Franciosi, James P JP

Publication Date: 2019-11

Variant appearance in text: rs841718

PubMed Link: 31490856

Variant Present in the following documents:

• Main text
• jpga-69-0581.pdf

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs841718

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Immunomodulatory germline variation associated with the development of multiple primary melanoma (MPM).

Scientific Reports

Ferguson, Robert R; Archambault, Alexi A; Simpson, Danny D; Morales, Leah L; Chat, Vylyny V; Kazlow, Esther E; Lax, Rebecca R; Yoon, Garrett G; Moran, Una U; Shapiro, Richard R; Pavlick, Anna A; Polsky, David D; Osman, Iman I; Kirchhoff, Tomas T

Publication Date: 2019-07-15

Variant appearance in text: rs841718

PubMed Link: 31308438

Variant Present in the following documents:

• Main text
• 41598_2019_Article_46665.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: STAT6: 1891+81C>T; rs841718

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon.

British Journal Of Haematology

Wonkam, Ambroise A; Mnika, Khuthala K; Ngo Bitoungui, Valentina J VJ; Chetcha Chemegni, Bernard B; Chimusa, Emile R ER; Dandara, Collet C; Kengne, Andre P AP

Publication Date: 2018-01

Variant appearance in text: rs841718

PubMed Link: 29205277

Variant Present in the following documents:

• Main text

View BVdb publication page

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An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine.

Omics : A Journal Of Integrative Biology

Mnika, Khuthala K; Pule, Gift D GD; Dandara, Collet C; Wonkam, Ambroise A

Publication Date: 2016-10

Variant appearance in text: rs841718

PubMed Link: 27636225

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Expression Quantitative Trait Loci in Immune Pathways and their Effect on Cutaneous Melanoma Prognosis.

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

Vogelsang, Matjaz M; Martinez, Carlos N CN; Rendleman, Justin J; Bapodra, Anuj A; Malecek, Karolina K; Romanchuk, Artur A; Kazlow, Esther E; Shapiro, Richard L RL; Berman, Russell S RS; Krogsgaard, Michelle M; Osman, Iman I; Kirchhoff, Tomas T

Publication Date: 2016-07-01

Variant appearance in text: rs841718

PubMed Link: 26733611

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of pain-related single nucleotide polymorphisms in patients of African origin with sickle cell disease.

Pharmacogenomics

Jhun, Ellie H EH; Yao, Yingwei Y; He, Ying Y; Mack, A Kyle AK; Wilkie, Diana J DJ; Molokie, Robert E RE; Wang, Zaijie Jim ZJ

Publication Date: 2015-11

Variant appearance in text: rs841718

PubMed Link: 26555434

Variant Present in the following documents:

• Main text

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: rs841718

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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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: rs841718

PubMed Link: 24973796

Variant Present in the following documents:

• Main text
• 12864_2013_Article_6258.pdf

View BVdb publication page

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Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population.

Plos One

Yatagai, Yohei Y; Sakamoto, Tohru T; Masuko, Hironori H; Kaneko, Yoshiko Y; Yamada, Hideyasu H; Iijima, Hiroaki H; Naito, Takashi T; Noguchi, Emiko E; Hirota, Tomomitsu T; Tamari, Mayumi M; Imoto, Yoshimasa Y; Tokunaga, Takahiro T; Fujieda, Shigeharu S; Konno, Satoshi S; Nishimura, Masaharu M; Hizawa, Nobuyuki N

Publication Date: 2013

Variant appearance in text: rs841718

PubMed Link: 24324648

Variant Present in the following documents:

• Main text
• pone.0080941.pdf

View BVdb publication page

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Association of polymorphisms in pharmacogenetic candidate genes (OPRD1, GAL, ABCB1, OPRM1) with opioid dependence in European population: a case-control study.

Plos One

Beer, Beate B; Erb, Robert R; Pavlic, Marion M; Ulmer, Hanno H; Giacomuzzi, Salvatore S; Riemer, Yvonne Y; Oberacher, Herbert H

Publication Date: 2013

Variant appearance in text: rs841718

PubMed Link: 24086514

Variant Present in the following documents:

• Main text

View BVdb publication page

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Wheezing and itching: The requirement for STAT proteins in allergic inflammation.

Jak-Stat

Glosson, Nicole L NL; Bruns, Heather A HA; Kaplan, Mark H MH

Publication Date: 2012-01-01

Variant appearance in text: rs841718

PubMed Link: 24058746

Variant Present in the following documents:

• Main text

View BVdb publication page

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DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.

Plos Genetics

Zhernakova, Daria V DV; de Klerk, Eleonora E; Westra, Harm-Jan HJ; Mastrokolias, Anastasios A; Amini, Shoaib S; Ariyurek, Yavuz Y; Jansen, Rick R; Penninx, Brenda W BW; Hottenga, Jouke J JJ; Willemsen, Gonneke G; de Geus, Eco J EJ; Boomsma, Dorret I DI; Veldink, Jan H JH; van den Berg, Leonard H LH; Wijmenga, Cisca C; den Dunnen, Johan T JT; van Ommen, Gert-Jan B GJ; 't Hoen, Peter A C PA; Franke, Lude L

Publication Date: 2013-06

Variant appearance in text: rs841718

PubMed Link: 23818875

Variant Present in the following documents:

• Main text
• pgen.1003594.pdf

View BVdb publication page

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STAT6 and LRP1 polymorphisms are associated with food allergen sensitization in Mexican children.

The Journal Of Allergy And Clinical Immunology

Hancock, Dana B DB; Romieu, Isabelle I; Chiu, Grace Y GY; Sienra-Monge, Juan-Jose JJ; Li, Huiling H; Estela Del Rio-Navarro, Blanca B; London, Stephanie J SJ

Publication Date: 2012-06

Variant appearance in text: rs841718

PubMed Link: 22534531

Variant Present in the following documents:

• Main text

View BVdb publication page

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The signal transducer and activator of transcription 6 gene (STAT6) increases the propensity of patients with atopic dermatitis toward disseminated viral skin infections.

The Journal Of Allergy And Clinical Immunology

Howell, Michael D MD; Gao, Peisong P; Kim, Byung Eui BE; Lesley, Leighann J LJ; Streib, Joanne E JE; Taylor, Patricia A PA; Zaccaro, Daniel J DJ; Boguniewicz, Mark M; Beck, Lisa A LA; Hanifin, Jon M JM; Schneider, Lynda C LC; Hata, Tissa R TR; Gallo, Richard L RL; Kaplan, Mark H MH; Barnes, Kathleen C KC; Leung, Donald Y M DY

Publication Date: 2011-11

Variant appearance in text: rs841718

PubMed Link: 21762972

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent advances in the use of opioids for cancer pain.

Journal Of Pain Research

Droney, Joanne J; Riley, Julia J

Publication Date: 2009-09-23

Variant appearance in text: rs841718

PubMed Link: 21197301

Variant Present in the following documents:

• Main text
• jpr-2-135.pdf

View BVdb publication page

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An association study of the signal transducer and activator of transcription 6 gene with periodic psychosis.

Psychiatry Investigation

Kawashige, Seiya S; Kanazawa, Tetsufumi T; Tsutsumi, Atsushi A; Kikuyama, Hiroki H; Uenishi, Hiroyuki H; Koh, Jun J; Yoneda, Hiroshi H

Publication Date: 2008-03

Variant appearance in text: rs841718

PubMed Link: 20046407

Variant Present in the following documents:

• Main text
• pi-5-41.pdf

View BVdb publication page

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Association of single-nucleotide polymorphisms in JAK3, STAT4, and STAT6 with new cardiovascular events in incident dialysis patients.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation

Sperati, C John CJ; Parekh, Rulan S RS; Berthier-Schaad, Yvette Y; Jaar, Bernard G BG; Plantinga, Laura L; Fink, Nancy N; Powe, Neil R NR; Smith, Michael W MW; Coresh, Josef J; Kao, W H Linda WH

Publication Date: 2009-05

Variant appearance in text: rs841718

PubMed Link: 19282076

Variant Present in the following documents:

• Main text

View BVdb publication page

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