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: rs2431663

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: DUSP1: Ile200Ile; rs2431663

PubMed Link: 36269797

Variant Present in the following documents:

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

View BVdb publication page

---

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: DUSP1: I200I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

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: DUSP1: I200I

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

---

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.

Nature Communications

Grosche, Sarah S; Marenholz, Ingo I; Esparza-Gordillo, Jorge J; Arnau-Soler, Aleix A; Pairo-Castineira, Erola E; Rüschendorf, Franz F; Ahluwalia, Tarunveer S TS; Almqvist, Catarina C; Arnold, Andreas A; , ; Baurecht, Hansjörg H; Bisgaard, Hans H; Bønnelykke, Klaus K; Brown, Sara J SJ; Bustamante, Mariona M; Curtin, John A JA; Custovic, Adnan A; Dharmage, Shyamali C SC; Esplugues, Ana A; Falchi, Mario M; Fernandez-Orth, Dietmar D; Ferreira, Manuel A R MAR; Franke, Andre A; Gerdes, Sascha S; Gieger, Christian C; Hakonarson, Hakon H; Holt, Patrick G PG; Homuth, Georg G; Hubner, Norbert N; Hysi, Pirro G PG; Jarvelin, Marjo-Riitta MR; Karlsson, Robert R; Koppelman, Gerard H GH; Lau, Susanne S; Lutz, Manuel M; Magnusson, Patrik K E PKE; Marks, Guy B GB; Müller-Nurasyid, Martina M; Nöthen, Markus M MM; Paternoster, Lavinia L; Pennell, Craig E CE; Peters, Annette A; Rawlik, Konrad K; Robertson, Colin F CF; Rodriguez, Elke E; Sebert, Sylvain S; Simpson, Angela A; Sleiman, Patrick M A PMA; Standl, Marie M; Stölzl, Dora D; Strauch, Konstantin K; Szwajda, Agnieszka A; Tenesa, Albert A; Thompson, Philip J PJ; Ullemar, Vilhelmina V; Visconti, Alessia A; Vonk, Judith M JM; Wang, Carol A CA; Weidinger, Stephan S; Wielscher, Matthias M; Worth, Catherine L CL; Xu, Chen-Jian CJ; Lee, Young-Ae YA

Publication Date: 2021-11-16

Variant appearance in text: rs2431663

PubMed Link: 34785669

Variant Present in the following documents:

• Main text
• 41467_2021_26783_MOESM1_ESM.pdf
• 41467_2021_Article_26783.pdf

View BVdb publication page

---

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.

Nature Communications

Grosche, Sarah S; Marenholz, Ingo I; Esparza-Gordillo, Jorge J; Arnau-Soler, Aleix A; Pairo-Castineira, Erola E; Rüschendorf, Franz F; Ahluwalia, Tarunveer S TS; Almqvist, Catarina C; Arnold, Andreas A; , ; Baurecht, Hansjörg H; Bisgaard, Hans H; Bønnelykke, Klaus K; Brown, Sara J SJ; Bustamante, Mariona M; Curtin, John A JA; Custovic, Adnan A; Dharmage, Shyamali C SC; Esplugues, Ana A; Falchi, Mario M; Fernandez-Orth, Dietmar D; Ferreira, Manuel A R MAR; Franke, Andre A; Gerdes, Sascha S; Gieger, Christian C; Hakonarson, Hakon H; Holt, Patrick G PG; Homuth, Georg G; Hubner, Norbert N; Hysi, Pirro G PG; Jarvelin, Marjo-Riitta MR; Karlsson, Robert R; Koppelman, Gerard H GH; Lau, Susanne S; Lutz, Manuel M; Magnusson, Patrik K E PKE; Marks, Guy B GB; Müller-Nurasyid, Martina M; Nöthen, Markus M MM; Paternoster, Lavinia L; Pennell, Craig E CE; Peters, Annette A; Rawlik, Konrad K; Robertson, Colin F CF; Rodriguez, Elke E; Sebert, Sylvain S; Simpson, Angela A; Sleiman, Patrick M A PMA; Standl, Marie M; Stölzl, Dora D; Strauch, Konstantin K; Szwajda, Agnieszka A; Tenesa, Albert A; Thompson, Philip J PJ; Ullemar, Vilhelmina V; Visconti, Alessia A; Vonk, Judith M JM; Wang, Carol A CA; Weidinger, Stephan S; Wielscher, Matthias M; Worth, Catherine L CL; Xu, Chen-Jian CJ; Lee, Young-Ae YA

Publication Date: 2021-11-16

Variant appearance in text: rs2431663

PubMed Link: 34785669

Variant Present in the following documents:

• Main text
• 41467_2021_26783_MOESM1_ESM.pdf
• 41467_2021_Article_26783.pdf

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: DUSP1: I200I; rs2431663

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: DUSP1: I200I; rs2431663

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: DUSP1: I200I; rs2431663

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

---

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: DUSP1: I200I; rs2431663

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

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

Communications Biology

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

Publication Date: 2020-04-20

Variant appearance in text: rs2431663

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_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: DUSP1: I200I; rs2431663

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 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

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2431663

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

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

Publication Date: 2017-11-10

Variant appearance in text: DUSP1: I200I; rs2431663

PubMed Link: 29221171

Variant Present in the following documents:

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

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: rs2431663

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Pharmacogenetics of steroid-responsive acute graft-versus-host disease.

Clinical Transplantation

Arora, Mukta M; Weisdorf, Daniel J DJ; Shanley, Ryan M RM; Thyagarajan, Bharat B

Publication Date: 2017-05

Variant appearance in text: rs2431663

PubMed Link: 28266732

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of Genetic and Epigenetic Variants Associated with Breast Cancer Prognosis by Integrative Bioinformatics Analysis.

Cancer Informatics

Shilpi, Arunima A; Bi, Yingtao Y; Jung, Segun S; Patra, Samir K SK; Davuluri, Ramana V RV

Publication Date: 2017

Variant appearance in text: rs2431663

PubMed Link: 28096648

Variant Present in the following documents:

• Main text
• cin-16-2017-001.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: DUSP1: I200I; rs2431663

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

---

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: DUSP1: I200I; rs2431663

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

---

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: DUSP1: I200I

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

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: DUSP1: I200I; rs2431663

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: DUSP1: I200I

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3

View BVdb publication page

---

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: DUSP1: I200I; rs2431663

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

---

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: DUSP1: I200I; rs2431663

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

---

DUSP1 Gene Polymorphisms Are Associated with Obesity-Related Metabolic Complications among Severely Obese Patients and Impact on Gene Methylation and Expression.

International Journal Of Genomics

Guénard, F F; Bouchard, L L; Tchernof, A A; Deshaies, Y Y; Hould, F S FS; Lebel, S S; Marceau, P P; Pérusse, L L; Vohl, M C MC

Publication Date: 2013

Variant appearance in text: DUSP1: Ile200Ile; rs2431663

PubMed Link: 23986905

Variant Present in the following documents:

• Main text
• IJG2013-609748.pdf

View BVdb publication page

---

Dual-specificity phosphatase 1 as a pharmacogenetic modifier of inhaled steroid response among asthmatic patients.

The Journal Of Allergy And Clinical Immunology

Jin, Ying Y; Hu, Donglei D; Peterson, Edward L EL; Eng, Celeste C; Levin, Albert M AM; Wells, Karen K; Beckman, Kenneth K; Kumar, Rajesh R; Seibold, Max A MA; Karungi, Gloria G; Zoratti, Amanda A; Gaggin, John J; Campbell, Janis J; Galanter, Joshua J; Chapela, Rocío R; Rodríguez-Santana, José R JR; Watson, H Geoffrey HG; Meade, Kelley K; Lenoir, Michael M; Rodríguez-Cintrón, William W; Avila, Pedro C PC; Lanfear, David E DE; Burchard, Esteban G EG; Williams, L Keoki LK

Publication Date: 2010-09

Variant appearance in text: rs2431663

PubMed Link: 20673984

Variant Present in the following documents:

• Main text

View BVdb publication page

---