Publications:

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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: CHIA: N45D

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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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine

El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W

Publication Date: 2023-03-14

Variant appearance in text: CHIA: 133A>G; Asn45Asp

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

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: CHIA: N45D; rs41282492

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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Differences in the chitinolytic activity of mammalian chitinases on soluble and insoluble substrates.

Protein Science : A Publication Of The Protein Society

Barad, Benjamin A BA; Liu, Lin L; Diaz, Roberto E RE; Basilio, Ralp R; Van Dyken, Steven J SJ; Locksley, Richard M RM; Fraser, James S JS

Publication Date: 2020-04

Variant appearance in text: AMCase: N45D

PubMed Link: 31930591

Variant Present in the following documents:

• Main text
• PRO-29-966.pdf

View BVdb publication page

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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: CHIA: N45D; rs41282492

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: CHIA: N45D; rs41282492

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: CHIA: N45D; rs41282492

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

View BVdb publication page

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Genetic variants including markers from the exome chip and metabolite traits of type 2 diabetes.

Scientific Reports

Jäger, Susanne S; Wahl, Simone S; Kröger, Janine J; Sharma, Sapna S; Hoffmann, Per P; Floegel, Anna A; Pischon, Tobias T; Prehn, Cornelia C; Adamski, Jerzy J; Müller-Nurasyid, Martina M; Waldenberger, Melanie M; Strauch, Konstantin K; Peters, Annette A; Gieger, Christian C; Suhre, Karsten K; Grallert, Harald H; Boeing, Heiner H; Schulze, Matthias B MB; Meidtner, Karina K

Publication Date: 2017-07-20

Variant appearance in text: CHIA: Asn45Asp; rs41282492

PubMed Link: 28729637

Variant Present in the following documents:

• Main text
• 41598_2017_Article_6158.pdf
• 41598_2017_6158_MOESM1_ESM.pdf

View BVdb publication page

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Loss and Gain of Human Acidic Mammalian Chitinase Activity by Nonsynonymous SNPs.

Molecular Biology And Evolution

Okawa, Kazuaki K; Ohno, Misa M; Kashimura, Akinori A; Kimura, Masahiro M; Kobayashi, Yuki Y; Sakaguchi, Masayoshi M; Sugahara, Yasusato Y; Kamaya, Minori M; Kino, Yoshihiro Y; Bauer, Peter O PO; Oyama, Fumitaka F

Publication Date: 2016-12

Variant appearance in text: AMCase: N45D

PubMed Link: 27702777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analysis of advanced glycation end products in the DHS MIND study.

Gene

Adams, Jeremy N JN; Raffield, Laura M LM; Martelle, Susan E SE; Freedman, Barry I BI; Langefeld, Carl D CD; Carr, J Jeffrey JJ; Cox, Amanda J AJ; Bowden, Donald W DW

Publication Date: 2016-06-15

Variant appearance in text: CHIA: N45D; rs41282492

PubMed Link: 26915486

Variant Present in the following documents:

• Main text

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: rs41282492

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: CHIA: N45D; rs41282492

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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A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma--A Retrospective Study.

Plos Neglected Tropical Diseases

Verwer, Patricia E B PE; Notenboom, Charlotte C CC; Eadie, Kimberly K; Fahal, Ahmed H AH; Verbrugh, Henri A HA; van de Sande, Wendy W J WW

Publication Date: 2015

Variant appearance in text: rs41282492

PubMed Link: 26332238

Variant Present in the following documents:

• Main text
• pntd.0004061.pdf

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: CHIA: N45D; rs41282492

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The chitinase and chitinase-like proteins: a review of genetic and functional studies in asthma and immune-mediated diseases.

Current Opinion In Allergy And Clinical Immunology

Ober, Carole C; Chupp, Geoffrey L GL

Publication Date: 2009-10

Variant appearance in text: CHIA: Asn45Asp

PubMed Link: 19644363

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential enzymatic activity of common haplotypic versions of the human acidic Mammalian chitinase protein.

The Journal Of Biological Chemistry

Seibold, Max A MA; Reese, Tiffany A TA; Choudhry, Shweta S; Salam, Muhammad T MT; Beckman, Kenny K; Eng, Celeste C; Atakilit, Amha A; Meade, Kelley K; Lenoir, Michael M; Watson, H Geoffrey HG; Thyne, Shannon S; Kumar, Rajesh R; Weiss, Kevin B KB; Grammer, Leslie C LC; Avila, Pedro P; Schleimer, Robert P RP; Fahy, John V JV; Rodriguez-Santana, Jose J; Rodriguez-Cintron, William W; Boot, Rolf G RG; Sheppard, Dean D; Gilliland, Frank D FD; Locksley, Richard M RM; Burchard, Esteban G EG

Publication Date: 2009-07-17

Variant appearance in text: AMCase: N45D

PubMed Link: 19435888

Variant Present in the following documents:

• Main text

View BVdb publication page

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