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Your search keyword '"Relling, Mary V."' showing total 15 results
Start Over Author "Relling, Mary V." Journal nature genetics
15 results on '"Relling, Mary V."'

1. The genomic landscape of pediatric acute lymphoblastic leukemia

Author

Brady, Samuel W., Roberts, Kathryn G., Gu, Zhaohui, Shi, Lei, Pounds, Stanley, Pei, Deqing, Cheng, Cheng, Dai, Yunfeng, Devidas, Meenakshi, Qu, Chunxu, Hill, Ashley N., Payne-Turner, Debbie, Ma, Xiaotu, Iacobucci, Ilaria, Baviskar, Pradyuamna, Wei, Lei, Arunachalam, Sasi, Hagiwara, Kohei, Liu, Yanling, Flasch, Diane A., Liu, Yu, Parker, Matthew, Chen, Xiaolong, Elsayed, Abdelrahman H., Pathak, Omkar, Li, Yongjin, Fan, Yiping, Michael, J. Robert, Rusch, Michael, Wilkinson, Mark R., Foy, Scott, Hedges, Dale J., Newman, Scott, Zhou, Xin, Wang, Jian, Reilly, Colleen, Sioson, Edgar, Rice, Stephen V., Pastor Loyola, Victor, Wu, Gang, Rampersaud, Evadnie, Reshmi, Shalini C., Gastier-Foster, Julie, Guidry Auvil, Jaime M., Gesuwan, Patee, Smith, Malcolm A., Winick, Naomi, Carroll, Andrew J., Heerema, Nyla A., Harvey, Richard C., Willman, Cheryl L., Larsen, Eric, Raetz, Elizabeth A., Borowitz, Michael J., Wood, Brent L., Carroll, William L., Zweidler-McKay, Patrick A., Rabin, Karen R., Mattano, Leonard A., Maloney, Kelly W., Winter, Stuart S., Burke, Michael J., Salzer, Wanda, Dunsmore, Kimberly P., Angiolillo, Anne L., Crews, Kristine R., Downing, James R., Jeha, Sima, Pui, Ching-Hon, Evans, William E., Yang, Jun J., Relling, Mary V., Gerhard, Daniela S., Loh, Mignon L., Hunger, Stephen P., Zhang, Jinghui, and Mullighan, Charles G.

Published
2022
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2. Noncoding genetic variation in GATA3 increases acute lymphoblastic leukemia risk through local and global changes in chromatin conformation

Author

Yang, Hongbo, Zhang, Hui, Luan, Yu, Liu, Tingting, Yang, Wentao, Roberts, Kathryn G., Qian, Mao-xiang, Zhang, Bo, Yang, Wenjian, Perez-Andreu, Virginia, Xu, Jie, Iyyanki, Sriranga, Kuang, Da, Stasiak, Lena A., Reshmi, Shalini C., Gastier-Foster, Julie, Smith, Colton, Pui, Ching-Hon, Evans, William E., Hunger, Stephen P., Platanias, Leonidas C., Relling, Mary V., Mullighan, Charles G., Loh, Mignon L., Yue, Feng, and Yang, Jun J.

Published
2022
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3. Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse.

Author

Perez-Andreu, Virginia, Roberts, Kathryn G, Harvey, Richard C, Yang, Wenjian, Cheng, Cheng, Pei, Deqing, Xu, Heng, Gastier-Foster, Julie, E, Shuyu, Lim, Joshua Yew-Suang, Chen, I-Ming, Fan, Yiping, Devidas, Meenakshi, Borowitz, Michael J, Smith, Colton, Neale, Geoffrey, Burchard, Esteban G, Torgerson, Dara G, Klussmann, Federico Antillon, Villagran, Cesar Rolando Najera, Winick, Naomi J, Camitta, Bruce M, Raetz, Elizabeth, Wood, Brent, Yue, Feng, Carroll, William L, Larsen, Eric, Bowman, W Paul, Loh, Mignon L, Dean, Michael, Bhojwani, Deepa, Pui, Ching-Hon, Evans, William E, Relling, Mary V, Hunger, Stephen P, Willman, Cheryl L, Mullighan, Charles G, and Yang, Jun J

Subjects
Humans, Genetic Predisposition to Disease, Recurrence, Risk, Case-Control Studies, Gene Frequency, Genotype, Inheritance Patterns, Polymorphism, Single Nucleotide, Child, GATA3 Transcription Factor, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Genome-Wide Association Study, Cancer, Childhood Leukemia, Rare Diseases, Pediatric, Hematology, Orphan Drug, Pediatric Research Initiative, Pediatric Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Recent genomic profiling of childhood acute lymphoblastic leukemia (ALL) identified a high-risk subtype with an expression signature resembling that of Philadelphia chromosome-positive ALL and poor prognosis (Ph-like ALL). However, the role of inherited genetic variation in Ph-like ALL pathogenesis remains unknown. In a genome-wide association study (GWAS) of 511 ALL cases and 6,661 non-ALL controls, we identified a susceptibility locus for Ph-like ALL (GATA3, rs3824662; P = 2.17 × 10(-14), odds ratio (OR) = 3.85 for Ph-like ALL versus non-ALL; P = 1.05 × 10(-8), OR = 3.25 for Ph-like ALL versus non-Ph-like ALL), with independent validation. The rs3824662 risk allele was associated with somatic lesions underlying Ph-like ALL (CRLF2 rearrangement, JAK gene mutation and IKZF1 deletion) and with variation in GATA3 expression. Finally, genotype at the GATA3 SNP was also associated with early treatment response and risk of ALL relapse. Our results provide insights into interactions between inherited and somatic variants and their role in ALL pathogenesis and prognosis.

Published
2013

4. PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia

Author

Gu, Zhaohui, Churchman, Michelle L., Roberts, Kathryn G., Moore, Ian, Zhou, Xin, Nakitandwe, Joy, Hagiwara, Kohei, Pelletier, Stephane, Gingras, Sebastien, Berns, Hartmut, Payne-Turner, Debbie, Hill, Ashley, Iacobucci, Ilaria, Shi, Lei, Pounds, Stanley, Cheng, Cheng, Pei, Deqing, Qu, Chunxu, Newman, Scott, Devidas, Meenakshi, Dai, Yunfeng, Reshmi, Shalini C., Gastier-Foster, Julie, Raetz, Elizabeth A., Borowitz, Michael J., Wood, Brent L., Carroll, William L., Zweidler-McKay, Patrick A., Rabin, Karen R., Mattano, Leonard A., Maloney, Kelly W., Rambaldi, Alessandro, Spinelli, Orietta, Radich, Jerald P., Minden, Mark D., Rowe, Jacob M., Luger, Selina, Litzow, Mark R., Tallman, Martin S., Racevskis, Janis, Zhang, Yanming, Bhatia, Ravi, Kohlschmidt, Jessica, Mrózek, Krzysztof, Bloomfield, Clara D., Stock, Wendy, Kornblau, Steven, Kantarjian, Hagop M., Konopleva, Marina, Evans, Williams E., Jeha, Sima, Pui, Ching-Hon, Yang, Jun, Paietta, Elisabeth, Downing, James R., Relling, Mary V., Zhang, Jinghui, Loh, Mignon L., Hunger, Stephen P., and Mullighan, Charles G.

Published
2019
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6. Noncoding genetic variation in GATA3increases acute lymphoblastic leukemia risk through local and global changes in chromatin conformation

Author

Yang, Hongbo, Zhang, Hui, Luan, Yu, Liu, Tingting, Yang, Wentao, Roberts, Kathryn G., Qian, Mao-xiang, Zhang, Bo, Yang, Wenjian, Perez-Andreu, Virginia, Xu, Jie, Iyyanki, Sriranga, Kuang, Da, Stasiak, Lena A., Reshmi, Shalini C., Gastier-Foster, Julie, Smith, Colton, Pui, Ching-Hon, Evans, William E., Hunger, Stephen P., Platanias, Leonidas C., Relling, Mary V., Mullighan, Charles G., Loh, Mignon L., Yue, Feng, and Yang, Jun J.

Abstract

Inherited noncoding genetic variants confer significant disease susceptibility to childhood acute lymphoblastic leukemia (ALL) but the molecular processes linking germline polymorphisms with somatic lesions in this cancer are poorly understood. Through targeted sequencing in 5,008 patients, we identified a key regulatory germline variant in GATA3associated with Philadelphia chromosome-like ALL (Ph-like ALL). Using CRISPR–Cas9 editing and samples from patients with Ph-like ALL, we showed that this variant activated a strong enhancer that upregulated GATA3transcription. This, in turn, reshaped global chromatin accessibility and three-dimensional genome organization, including regions proximal to the ALL oncogene CRLF2. Finally, we showed that GATA3directly regulated CRLF2and potentiated the JAK–STAT oncogenic effects during leukemogenesis. Taken together, we provide evidence for a distinct mechanism by which a germline noncoding variant contributes to oncogene activation, epigenetic regulation and three-dimensional genome reprogramming.

Published
2022
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7. The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia

Author

Liu, Yu, primary, Easton, John, additional, Shao, Ying, additional, Maciaszek, Jamie, additional, Wang, Zhaoming, additional, Wilkinson, Mark R, additional, McCastlain, Kelly, additional, Edmonson, Michael, additional, Pounds, Stanley B, additional, Shi, Lei, additional, Zhou, Xin, additional, Ma, Xiaotu, additional, Sioson, Edgar, additional, Li, Yongjin, additional, Rusch, Michael, additional, Gupta, Pankaj, additional, Pei, Deqing, additional, Cheng, Cheng, additional, Smith, Malcolm A, additional, Auvil, Jaime Guidry, additional, Gerhard, Daniela S, additional, Relling, Mary V, additional, Winick, Naomi J, additional, Carroll, Andrew J, additional, Heerema, Nyla A, additional, Raetz, Elizabeth, additional, Devidas, Meenakshi, additional, Willman, Cheryl L, additional, Harvey, Richard C, additional, Carroll, William L, additional, Dunsmore, Kimberly P, additional, Winter, Stuart S, additional, Wood, Brent L, additional, Sorrentino, Brian P, additional, Downing, James R, additional, Loh, Mignon L, additional, Hunger, Stephen P, additional, Zhang, Jinghui, additional, and Mullighan, Charles G, additional

Published
2017
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8. NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity

Author

Moriyama, Takaya, primary, Nishii, Rina, additional, Perez-Andreu, Virginia, additional, Yang, Wenjian, additional, Klussmann, Federico Antillon, additional, Zhao, Xujie, additional, Lin, Ting-Nien, additional, Hoshitsuki, Keito, additional, Nersting, Jacob, additional, Kihira, Kentaro, additional, Hofmann, Ute, additional, Komada, Yoshihiro, additional, Kato, Motohiro, additional, McCorkle, Robert, additional, Li, Lie, additional, Koh, Katsuyoshi, additional, Najera, Cesar Rolando, additional, Kham, Shirley Kow-Yin, additional, Isobe, Tomoya, additional, Chen, Zhiwei, additional, Chiew, Edwynn Kean-Hui, additional, Bhojwani, Deepa, additional, Jeffries, Cynthia, additional, Lu, Yan, additional, Schwab, Matthias, additional, Inaba, Hiroto, additional, Pui, Ching-Hon, additional, Relling, Mary V, additional, Manabe, Atsushi, additional, Hori, Hiroki, additional, Schmiegelow, Kjeld, additional, Yeoh, Allen E J, additional, Evans, William E, additional, and Yang, Jun J, additional

Published
2016
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9. NALP3 inflammasome upregulation and CASP1 cleavage of the glucocorticoid receptor cause glucocorticoid resistance in leukemia cells

Author

Paugh, Steven W, primary, Bonten, Erik J, additional, Savic, Daniel, additional, Ramsey, Laura B, additional, Thierfelder, William E, additional, Gurung, Prajwal, additional, Malireddi, R K Subbarao, additional, Actis, Marcelo, additional, Mayasundari, Anand, additional, Min, Jaeki, additional, Coss, David R, additional, Laudermilk, Lucas T, additional, Panetta, John C, additional, McCorkle, J Robert, additional, Fan, Yiping, additional, Crews, Kristine R, additional, Stocco, Gabriele, additional, Wilkinson, Mark R, additional, Ferreira, Antonio M, additional, Cheng, Cheng, additional, Yang, Wenjian, additional, Karol, Seth E, additional, Fernandez, Christian A, additional, Diouf, Barthelemy, additional, Smith, Colton, additional, Hicks, J Kevin, additional, Zanut, Alessandra, additional, Giordanengo, Audrey, additional, Crona, Daniel, additional, Bianchi, Joy J, additional, Holmfeldt, Linda, additional, Mullighan, Charles G, additional, den Boer, Monique L, additional, Pieters, Rob, additional, Jeha, Sima, additional, Dunwell, Thomas L, additional, Latif, Farida, additional, Bhojwani, Deepa, additional, Carroll, William L, additional, Pui, Ching-Hon, additional, Myers, Richard M, additional, Guy, R Kiplin, additional, Kanneganti, Thirumala-Devi, additional, Relling, Mary V, additional, and Evans, William E, additional

Published
2015
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10. Deregulation of DUX4 and ERG in acute lymphoblastic leukemia

Author

Zhang, Jinghui, McCastlain, Kelly, Yoshihara, Hiroki, Xu, Beisi, Chang, Yunchao, Churchman, Michelle L, Wu, Gang, Li, Yongjin, Wei, Lei, Iacobucci, Ilaria, Liu, Yu, Qu, Chunxu, Wen, Ji, Edmonson, Michael, Payne-Turner, Debbie, Kaufmann, Kerstin B, Takayanagi, Shin-ichiro, Wienholds, Erno, Waanders, Esmé, Ntziachristos, Panagiotis, Bakogianni, Sofia, Wang, Jingjing, Aifantis, Iannis, Roberts, Kathryn G, Ma, Jing, Song, Guangchun, Easton, John, Mulder, Heather L, Chen, Xiang, Newman, Scott, Ma, Xiaotu, Rusch, Michael, Gupta, Pankaj, Boggs, Kristy, Vadodaria, Bhavin, Dalton, James, Liu, Yanling, Valentine, Marcus L, Ding, Li, Lu, Charles, Fulton, Robert S, Fulton, Lucinda, Tabib, Yashodhan, Ochoa, Kerri, Devidas, Meenakshi, Pei, Deqing, Cheng, Cheng, Yang, Jun, Evans, William E, Relling, Mary V, Pui, Ching-Hon, Jeha, Sima, Harvey, Richard C, Chen, I-Ming L, Willman, Cheryl L, Marcucci, Guido, Bloomfield, Clara D, Kohlschmidt, Jessica, Mrózek, Krzysztof, Paietta, Elisabeth, Tallman, Martin S, Stock, Wendy, Foster, Matthew C, Racevskis, Janis, Rowe, Jacob M, Luger, Selina, Kornblau, Steven M, Shurtleff, Sheila A, Raimondi, Susana C, Mardis, Elaine R, Wilson, Richard K, Dick, John E, Hunger, Stephen P, Loh, Mignon L, Downing, James R, and Mullighan, Charles G

Abstract

Chromosomal rearrangements deregulating hematopoietic transcription factors are common in acute lymphoblastic leukemia (ALL). Here we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG is a hallmark of a subtype of B-progenitor ALL that comprises up to 7% of B-ALL. DUX4 rearrangement and overexpression was present in all cases and was accompanied by transcriptional deregulation of ERG, expression of a novel ERG isoform, ERGalt, and frequent ERG deletion. ERGalt uses a non-canonical first exon whose transcription was initiated by DUX4 binding. ERGalt retains the DNA-binding and transactivation domains of ERG, but it inhibits wild-type ERG transcriptional activity and is transforming. These results illustrate a unique paradigm of transcription factor deregulation in leukemia in which DUX4 deregulation results in loss of function of ERG, either by deletion or induced expression of an isoform that is a dominant-negative inhibitor of wild-type ERG function.

Published
2016
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11. Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia

Author

Yang, Jun J, primary, Cheng, Cheng, additional, Devidas, Meenakshi, additional, Cao, Xueyuan, additional, Fan, Yiping, additional, Campana, Dario, additional, Yang, Wenjian, additional, Neale, Geoff, additional, Cox, Nancy J, additional, Scheet, Paul, additional, Borowitz, Michael J, additional, Winick, Naomi J, additional, Martin, Paul L, additional, Willman, Cheryl L, additional, Bowman, W Paul, additional, Camitta, Bruce M, additional, Carroll, Andrew, additional, Reaman, Gregory H, additional, Carroll, William L, additional, Loh, Mignon, additional, Hunger, Stephen P, additional, Pui, Ching-Hon, additional, Evans, William E, additional, and Relling, Mary V, additional

Published
2011
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12. Germline genomic variants associated with childhood acute lymphoblastic leukemia

Author

Treviño, Lisa R, primary, Yang, Wenjian, additional, French, Deborah, additional, Hunger, Stephen P, additional, Carroll, William L, additional, Devidas, Meenakshi, additional, Willman, Cheryl, additional, Neale, Geoffrey, additional, Downing, James, additional, Raimondi, Susana C, additional, Pui, Ching-Hon, additional, Evans, William E, additional, and Relling, Mary V, additional

Published
2009
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15. Karyotypic abnormalities create discordance of germline genotype and cancer cell phenotypes.

Author

Qing Cheng, Wenjian Yang, Raimondi, Susana C., Ching-Hon Pui, Relling, Mary V., and Evans, William E.

Subjects
KARYOTYPES, CHROMOSOMES, PHENOTYPES, CANCER cells, PHARMACOGENOMICS, BIOCHEMICAL genetics
Abstract

The nature of mendelian inheritance assumes that all tissues in which a phenotype of interest is expressed have a uniform diploid karyotype, which is often not the case in cancer cells. Owing to nonrandom gains of chromosomes, trisomies are present in many cases of leukemia and other malignances. We used polymorphisms in the genes encoding thiopurine S-methyltransferase (TPMT), γ-glutamyl hydrolase (GGH) and the reduced folate carrier (SLC19A1) to assess the nature of chromosomal acquisition and its influence on genotype-phenotype concordance in cancer cells. TPMT and GGH activities in somatic cells were concordant with germline genotypes, whereas activities in leukemia cells were determined by chromosomal number and whether the acquired chromosomes contained a wild-type or variant allele. Leukemia cells that had acquired an additional chromosome containing a wild-type TPMT or GGH allele had significantly lower accumulation of thioguanine nucleotides or methotrexate polyglutamates, respectively. Among these genes, there was a comparable number of acquired chromosomes with wild-type and variant alleles. Therefore, chromosomal gain can alter the concordance of germline genotype and cancer cell phenotypes, indicating that allele-specific quantitative genotyping may be required to define cancer pharmacogenomics unequivocally. [ABSTRACT FROM AUTHOR]

Published
2005
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