Publications:

---

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: PPARGC1A: T528T

PubMed Link: 36928921

Variant Present in the following documents:

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

View BVdb publication page

---

Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.

Jci Insight

Tayoun, Tala T; Faugeroux, Vincent V; Oulhen, Marianne M; Déas, Olivier O; Michels, Judith J; Brulle-Soumare, Laura L; Cairo, Stefano S; Scoazec, Jean-Yves JY; Marty, Virginie V; Aberlenc, Agathe A; Planchard, David D; Remon, Jordi J; Ponce, Santiago S; Besse, Benjamin B; Kannouche, Patricia L PL; Judde, Jean-Gabriel JG; Pawlikowska, Patrycja P; Farace, Françoise F

Publication Date: 2022-06-08

Variant appearance in text: N/A

PubMed Link: 35511434

Variant Present in the following documents:

View BVdb publication page

---

Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.

International Journal Of Molecular Sciences

Scapoli, Chiara C; Ziliotto, Nicole N; Lunghi, Barbara B; Menegatti, Erica E; Salvi, Fabrizio F; Zamboni, Paolo P; Baroni, Marcello M; Mascoli, Francesco F; Bernardi, Francesco F; Marchetti, Giovanna G

Publication Date: 2021-12-28

Variant appearance in text: rs3755863

PubMed Link: 35008743

Variant Present in the following documents:

• Main text
• ijms-23-00310.pdf

View BVdb publication page

---

Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.

International Journal Of Molecular Sciences

Scapoli, Chiara C; Ziliotto, Nicole N; Lunghi, Barbara B; Menegatti, Erica E; Salvi, Fabrizio F; Zamboni, Paolo P; Baroni, Marcello M; Mascoli, Francesco F; Bernardi, Francesco F; Marchetti, Giovanna G

Publication Date: 2021-12-28

Variant appearance in text: rs3755863

PubMed Link: 35008743

Variant Present in the following documents:

• Main text
• ijms-23-00310.pdf

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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

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: N/A

PubMed Link: 33420045

Variant Present in the following documents:

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: N/A

PubMed Link: 32529721

Variant Present in the following documents:

View BVdb publication page

---

Genetic Variants in the Activation of the Brown-Like Adipocyte Pathway and the Risk for Severe Obesity.

Obesity Facts

da Fonseca, Ana Carolina Proença ACP; da Fonseca, Guilherme Proença GP; Marchesini, Bruna B; Voigt, Danielle Dutra DD; Campos Junior, Mario M; Zembrzuski, Verônica Marques VM; Carneiro, João Regis Ivar JRI; Nogueira Neto, José Firmino JF; Cabello, Pedro Hernan PH; Cabello, Giselda Maria Kalil GMK

Publication Date: 2020

Variant appearance in text: rs3755863

PubMed Link: 32325455

Variant Present in the following documents:

• Main text

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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

---

THE PPARGC1A - GLY482SER POLYMORPHISM (RS8192678) AND THE METABOLIC SYNDROME IN A CENTRAL ROMANIAN POPULATION.

Acta Endocrinologica (Bucharest, Romania : 2005)

Csép, K K; Szigeti, E E; Vitai, M M; Korányi, L L

Publication Date: 2017

Variant appearance in text: N/A

PubMed Link: 31149168

Variant Present in the following documents:

View BVdb publication page

---

Systematic Meta-analysis Revealed an Association of PGC-1α rs8192678 Polymorphism in Type 2 Diabetes Mellitus.

Disease Markers

Xia, Wanning W; Chen, Nanxing N; Peng, Wenjia W; Jia, Xianjie X; Yu, Ying Y; Wu, Xuesen X; Gao, Huaiquan H

Publication Date: 2019

Variant appearance in text: rs3755863

PubMed Link: 30944665

Variant Present in the following documents:

• Main text
• DM2019-2970401.pdf

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs3755863

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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: rs3755863

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: PPARGC1A: 1584G>A; rs3755863

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget

Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D

Publication Date: 2017-12-01

Variant appearance in text: N/A

PubMed Link: 29285300

Variant Present in the following documents:

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: N/A

PubMed Link: 29221171

Variant Present in the following documents:

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: rs3755863

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Haplotype-based interaction of the PPARGC1A and UCP1 genes is associated with impaired fasting glucose or type 2 diabetes mellitus.

Medicine

Pei, Xiaoting X; Liu, Li L; Cai, Jialin J; Wei, Wenkai W; Shen, Yan Y; Wang, Yaxuan Y; Chen, Yanzi Y; Sun, Panpan P; Imam, Mustapha Umar MU; Ping, Zhiguang Z; Fu, Xiaoli X

Publication Date: 2017-06

Variant appearance in text: rs3755863

PubMed Link: 28591028

Variant Present in the following documents:

• Main text
• medi-96-e6941.pdf

View BVdb publication page

---

Association of adiponectin gene polymorphism with nonalcoholic fatty liver disease in Taiwanese patients with type 2 diabetes.

Plos One

Hsieh, Ching-Jung CJ; Wang, Pei Wen PW; Hu, Tsung Hui TH

Publication Date: 2015

Variant appearance in text: rs3755863

PubMed Link: 26042596

Variant Present in the following documents:

• Main text
• pone.0127521.pdf

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: N/A

PubMed Link: 25944692

Variant Present in the following documents:

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: N/A

PubMed Link: 25496518

Variant Present in the following documents:

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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

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: N/A

PubMed Link: 24219164

Variant Present in the following documents:

View BVdb publication page

---

The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.

Bmc Cancer

Johnson, Julie K JK; Waddell, Nic N; , ; Chenevix-Trench, Georgia G

Publication Date: 2012-06-15

Variant appearance in text: rs3755863

PubMed Link: 22703186

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Implications for health and disease in the genetic signature of the Ashkenazi Jewish population.

Genome Biology

Guha, Saurav S; Rosenfeld, Jeffrey A JA; Malhotra, Anil K AK; Lee, Annette T AT; Gregersen, Peter K PK; Kane, John M JM; Pe'er, Itsik I; Darvasi, Ariel A; Lencz, Todd T

Publication Date: 2012-01-25

Variant appearance in text: rs3755863

PubMed Link: 22277159

Variant Present in the following documents:

• Main text
• gb-2012-13-1-r2.pdf

View BVdb publication page

---

Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease.

Molecular Neurodegeneration

Che, Hong Van B HV; Metzger, Silke S; Portal, Esteban E; Deyle, Carolin C; Riess, Olaf O; Nguyen, Huu Phuc HP

Publication Date: 2011-01-06

Variant appearance in text: rs3755863

PubMed Link: 21211002

Variant Present in the following documents:

• Main text
• 1750-1326-6-1.pdf

View BVdb publication page

---

Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs3755863

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

---

The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease.

Molecular Neurodegeneration

Weydt, Patrick P; Soyal, Selma M SM; Gellera, Cinzia C; Didonato, Stefano S; Weidinger, Claus C; Oberkofler, Hannes H; Landwehrmeyer, G Bernhard GB; Patsch, Wolfgang W

Publication Date: 2009-01-08

Variant appearance in text: rs3755863

PubMed Link: 19133136

Variant Present in the following documents:

• Main text
• 1750-1326-4-3.pdf

View BVdb publication page

---

Association between PPARGC1A polymorphisms and the occurrence of nonalcoholic fatty liver disease (NAFLD).

Bmc Gastroenterology

Yoneda, Masato M; Hotta, Kikuko K; Nozaki, Yuichi Y; Endo, Hiroki H; Uchiyama, Takashi T; Mawatari, Hironori H; Iida, Hiroshi H; Kato, Shingo S; Hosono, Kunihiro K; Fujita, Koji K; Yoneda, Kyoko K; Takahashi, Hirokazu H; Kirikoshi, Hiroyuki H; Kobayashi, Noritoshi N; Inamori, Masahiko M; Abe, Yasunobu Y; Kubota, Kensuke K; Saito, Satoru S; Maeyama, Shiro S; Wada, Koichiro K; Nakajima, Atsushi A

Publication Date: 2008-06-27

Variant appearance in text: rs3755863

PubMed Link: 18588668

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An ensemble learning approach jointly modeling main and interaction effects in genetic association studies.

Genetic Epidemiology

Zhang, Zhaogong Z; Zhang, Shuanglin S; Wong, Man-Yu MY; Wareham, Nicholas J NJ; Sha, Qiuying Q

Publication Date: 2008-05

Variant appearance in text: rs3755863

PubMed Link: 18205210

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.

Plos Biology

Barroso, Inês I; Luan, Jian'an J; Middelberg, Rita P S RP; Harding, Anne-Helen AH; Franks, Paul W PW; Jakes, Rupert W RW; Clayton, D D; Schafer, Alan J AJ; O'Rahilly, Stephen S; Wareham, Nicholas J NJ

Publication Date: 2003-10

Variant appearance in text: PPARGC1: Thr528Thr

PubMed Link: 14551916

Variant Present in the following documents:

• Main text
• pbio.0000020.pdf

View BVdb publication page

---