Publications:

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OpenCustomDB: Integration of Unannotated Open Reading Frames and Genetic Variants to Generate More Comprehensive Customized Protein Databases.

Journal Of Proteome Research

Guilloy, Noé N; Brunet, Marie A MA; Leblanc, Sébastien S; Jacques, Jean-François JF; Hardy, Marie-Pierre MP; Ehx, Grégory G; Lanoix, Joël J; Thibault, Pierre P; Perreault, Claude C; Roucou, Xavier X

Publication Date: 2023-03-24

Variant appearance in text: MRPL28: Tyr139Tyr

PubMed Link: 36961377

Variant Present in the following documents:

• pr3c00054_si_002.xlsx, sheet 2

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: MRPL28: Y139Y

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.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: MRPL28: Y139Y; rs3830160

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: MRPL28: 417T>C; Tyr139Tyr; rs3830160

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: MRPL28: Y139Y

PubMed Link: 36241656

Variant Present in the following documents:

• 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_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_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: MRPL28: Y139Y; rs3830160

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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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: MRPL28: 417T>C; Y139Y; rs3830160

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: MRPL28: Y139Y; rs3830160

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: MRPL28: Y139Y; rs3830160

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: MRPL28: 417T>C; rs3830160

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_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: MRPL28: Y139Y; rs3830160

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs3830160

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.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: MRPL28: Y139Y; rs3830160

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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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: MRPL28: Y139Y; rs3830160

PubMed Link: 25944692

Variant Present in the following documents:

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

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: MRPL28: Y139Y; rs3830160

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: MRPL28: Y139Y

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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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: MRPL28: Y139Y; rs3830160

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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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: MRPL28: Y139Y; rs3830160

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

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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Nature Genetics

Estrada, Karol K; Styrkarsdottir, Unnur U; Evangelou, Evangelos E; Hsu, Yi-Hsiang YH; Duncan, Emma L EL; Ntzani, Evangelia E EE; Oei, Ling L; Albagha, Omar M E OM; Amin, Najaf N; Kemp, John P JP; Koller, Daniel L DL; Li, Guo G; Liu, Ching-Ti CT; Minster, Ryan L RL; Moayyeri, Alireza A; Vandenput, Liesbeth L; Willner, Dana D; Xiao, Su-Mei SM; Yerges-Armstrong, Laura M LM; Zheng, Hou-Feng HF; Alonso, Nerea N; Eriksson, Joel J; Kammerer, Candace M CM; Kaptoge, Stephen K SK; Leo, Paul J PJ; Thorleifsson, Gudmar G; Wilson, Scott G SG; Wilson, James F JF; Aalto, Ville V; Alen, Markku M; Aragaki, Aaron K AK; Aspelund, Thor T; Center, Jacqueline R JR; Dailiana, Zoe Z; Duggan, David J DJ; Garcia, Melissa M; Garcia-Giralt, Natàlia N; Giroux, Sylvie S; Hallmans, Göran G; Hocking, Lynne J LJ; Husted, Lise Bjerre LB; Jameson, Karen A KA; Khusainova, Rita R; Kim, Ghi Su GS; Kooperberg, Charles C; Koromila, Theodora T; Kruk, Marcin M; Laaksonen, Marika M; Lacroix, Andrea Z AZ; Lee, Seung Hun SH; Leung, Ping C PC; Lewis, Joshua R JR; Masi, Laura L; Mencej-Bedrac, Simona S; Nguyen, Tuan V TV; Nogues, Xavier X; Patel, Millan S MS; Prezelj, Janez J; Rose, Lynda M LM; Scollen, Serena S; Siggeirsdottir, Kristin K; Smith, Albert V AV; Svensson, Olle O; Trompet, Stella S; Trummer, Olivia O; van Schoor, Natasja M NM; Woo, Jean J; Zhu, Kun K; Balcells, Susana S; Brandi, Maria Luisa ML; Buckley, Brendan M BM; Cheng, Sulin S; Christiansen, Claus C; Cooper, Cyrus C; Dedoussis, George G; Ford, Ian I; Frost, Morten M; Goltzman, David D; González-Macías, Jesús J; Kähönen, Mika M; Karlsson, Magnus M; Khusnutdinova, Elza E; Koh, Jung-Min JM; Kollia, Panagoula P; Langdahl, Bente Lomholt BL; Leslie, William D WD; Lips, Paul P; Ljunggren, Östen Ö; Lorenc, Roman S RS; Marc, Janja J; Mellström, Dan D; Obermayer-Pietsch, Barbara B; Olmos, José M JM; Pettersson-Kymmer, Ulrika U; Reid, David M DM; Riancho, José A JA; Ridker, Paul M PM; Rousseau, François F; Slagboom, P Eline PE; Tang, Nelson L S NL; Urreizti, Roser R; Van Hul, Wim W; Viikari, Jorma J; Zarrabeitia, María T MT; Aulchenko, Yurii S YS; Castano-Betancourt, Martha M; Grundberg, Elin E; Herrera, Lizbeth L; Ingvarsson, Thorvaldur T; Johannsdottir, Hrefna H; Kwan, Tony T; Li, Rui R; Luben, Robert R; Medina-Gómez, Carolina C; Palsson, Stefan Th ST; Reppe, Sjur S; Rotter, Jerome I JI; Sigurdsson, Gunnar G; van Meurs, Joyce B J JB; Verlaan, Dominique D; Williams, Frances M K FM; Wood, Andrew R AR; Zhou, Yanhua Y; Gautvik, Kaare M KM; Pastinen, Tomi T; Raychaudhuri, Soumya S; Cauley, Jane A JA; Chasman, Daniel I DI; Clark, Graeme R GR; Cummings, Steven R SR; Danoy, Patrick P; Dennison, Elaine M EM; Eastell, Richard R; Eisman, John A JA; Gudnason, Vilmundur V; Hofman, Albert A; Jackson, Rebecca D RD; Jones, Graeme G; Jukema, J Wouter JW; Khaw, Kay-Tee KT; Lehtimäki, Terho T; Liu, Yongmei Y; Lorentzon, Mattias M; McCloskey, Eugene E; Mitchell, Braxton D BD; Nandakumar, Kannabiran K; Nicholson, Geoffrey C GC; Oostra, Ben A BA; Peacock, Munro M; Pols, Huibert A P HA; Prince, Richard L RL; Raitakari, Olli O; Reid, Ian R IR; Robbins, John J; Sambrook, Philip N PN; Sham, Pak Chung PC; Shuldiner, Alan R AR; Tylavsky, Frances A FA; van Duijn, Cornelia M CM; Wareham, Nick J NJ; Cupples, L Adrienne LA; Econs, Michael J MJ; Evans, David M DM; Harris, Tamara B TB; Kung, Annie Wai Chee AW; Psaty, Bruce M BM; Reeve, Jonathan J; Spector, Timothy D TD; Streeten, Elizabeth A EA; Zillikens, M Carola MC; Thorsteinsdottir, Unnur U; Ohlsson, Claes C; Karasik, David D; Richards, J Brent JB; Brown, Matthew A MA; Stefansson, Kari K; Uitterlinden, André G AG; Ralston, Stuart H SH; Ioannidis, John P A JP; Kiel, Douglas P DP; Rivadeneira, Fernando F

Publication Date: 2012-04-15

Variant appearance in text: rs3830160

PubMed Link: 22504420

Variant Present in the following documents:

• NIHMS364577-supplement-1.pdf

View BVdb publication page

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Tissue-specific genetic control of splicing: implications for the study of complex traits.

Plos Biology

Heinzen, Erin L EL; Ge, Dongliang D; Cronin, Kenneth D KD; Maia, Jessica M JM; Shianna, Kevin V KV; Gabriel, Willow N WN; Welsh-Bohmer, Kathleen A KA; Hulette, Christine M CM; Denny, Thomas N TN; Goldstein, David B DB

Publication Date: 2008-12-23

Variant appearance in text: rs3830160

PubMed Link: 19222302

Variant Present in the following documents:

• pbio.1000001.pdf

View BVdb publication page

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