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: GRN: T182M

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

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Frontotemporal Dementia and Glucose Metabolism.

Frontiers In Neuroscience

Garrett, Liam Rodney LR; Niccoli, Teresa T

Publication Date: 2022

Variant appearance in text: GRN: T182M

PubMed Link: 35281504

Variant Present in the following documents:

• Main text
• fnins-16-812222.pdf

View BVdb publication page

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CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors.

Theranostics

Shi, Zhiwen Z; Shen, Jianfeng J; Qiu, Junjun J; Zhao, Qingguo Q; Hua, Keqin K; Wang, Hongyan H

Publication Date: 2021

Variant appearance in text: GRN: 545C>T; T182M

PubMed Link: 34158843

Variant Present in the following documents:

• thnov11p7175s3.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: GRN: T182M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Bmc Medical Genetics

Oluwole, Oluwafemi G OG; Kuivaniemi, Helena H; Abrahams, Shameemah S; Haylett, William L WL; Vorster, Alvera A AA; van Heerden, Carel J CJ; Kenyon, Colin P CP; Tabb, David L DL; Fawale, Michael B MB; Sunmonu, Taofiki A TA; Ajose, Abiodun A; Olaogun, Matthew O MO; Rossouw, Anastasia C AC; van Hillegondsberg, Ludo S LS; Carr, Jonathan J; Ross, Owen A OA; Komolafe, Morenikeji A MA; Tromp, Gerard G; Bardien, Soraya S

Publication Date: 2020-02-04

Variant appearance in text: GRN: 545C>T; Thr182Met

PubMed Link: 32019516

Variant Present in the following documents:

• 12881_2020_953_MOESM8_ESM.xlsx, sheet 1
• 12881_2020_953_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: GRN: T182M; rs63750479

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Frontiers In Molecular Neuroscience

Krüger, Stefanie S; Battke, Florian F; Sprecher, Andrea A; Munz, Marita M; Synofzik, Matthis M; Schöls, Ludger L; Gasser, Thomas T; Grehl, Torsten T; Prudlo, Johannes J; Biskup, Saskia S

Publication Date: 2016

Variant appearance in text: GRN: 545C>T; rs63750479

PubMed Link: 27790088

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.

Plos One

Guven, Gamze G; Lohmann, Ebba E; Bras, Jose J; Gibbs, J Raphael JR; Gurvit, Hakan H; Bilgic, Basar B; Hanagasi, Hasmet H; Rizzu, Patrizia P; Heutink, Peter P; Emre, Murat M; Erginel-Unaltuna, Nihan N; Just, Walter W; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R

Publication Date: 2016

Variant appearance in text: GRN: 545C>T; rs63750479

PubMed Link: 27632209

Variant Present in the following documents:

• Main text
• pone.0162592.pdf

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: rs63750479

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.

Frontiers In Aging Neuroscience

Benussi, Alberto A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2015

Variant appearance in text: GRN: T182M

PubMed Link: 26388768

Variant Present in the following documents:

• Main text
• fnagi-07-00171.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GRN: T182M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: GRN: T182M; rs63750479

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Archives Of Neurology

Yu, Chang-En CE; Bird, Thomas D TD; Bekris, Lynn M LM; Montine, Thomas J TJ; Leverenz, James B JB; Steinbart, Ellen E; Galloway, Nichole M NM; Feldman, Howard H; Woltjer, Randall R; Miller, Carol A CA; Wood, Elisabeth McCarty EM; Grossman, Murray M; McCluskey, Leo L; Clark, Christopher M CM; Neumann, Manuela M; Danek, Adrian A; Galasko, Douglas R DR; Arnold, Steven E SE; Chen-Plotkin, Alice A; Karydas, Anna A; Miller, Bruce L BL; Trojanowski, John Q JQ; Lee, Virginia M-Y VM; Schellenberg, Gerard D GD; Van Deerlin, Vivianna M VM

Publication Date: 2010-02

Variant appearance in text: GRN: 545C>T

PubMed Link: 20142524

Variant Present in the following documents:

• Main text

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A thorough assessment of benign genetic variability in GRN and MAPT.

Human Mutation

Guerreiro, Rita J RJ; Washecka, Nicole N; Hardy, John J; Singleton, Andrew A

Publication Date: 2010-02

Variant appearance in text: GRN: T182M

PubMed Link: 20020531

Variant Present in the following documents:

• Main text

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Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes.

Journal Of Neurology, Neurosurgery, And Psychiatry

Schymick, J C JC; Yang, Y Y; Andersen, P M PM; Vonsattel, J P JP; Greenway, M M; Momeni, P P; Elder, J J; Chiò, A A; Restagno, G G; Robberecht, W W; Dahlberg, C C; Mukherjee, O O; Goate, A A; Graff-Radford, N N; Caselli, R J RJ; Hutton, M M; Gass, J J; Cannon, A A; Rademakers, R R; Singleton, A B AB; Hardiman, O O; Rothstein, J J; Hardy, J J; Traynor, B J BJ

Publication Date: 2007-07

Variant appearance in text: PGRN: T182M

PubMed Link: 17371905

Variant Present in the following documents:

• Main text

View BVdb publication page

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