Eugene Mcdermott Center For Human Growth & Development

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2020

A calcineurin–Hoxb13 axis regulates growth mode of mammalian cardiomyocytes

Nguyen, N. U. N., Canseco, D. C., Xiao, F., Nakada, Y., Li, S., Lam, N. T., Muralidhar, S. A., Savla, J. J., Hill, J. A., Le, V., Zidan, K. A., El-Feky, H. W., Wang, Z., Ahmed, M. S., Hubbi, M. E., Menendez-Montes, I., Moon, J., Ali, S. R., Le, V., Villalobos, E. & 13 others, Mohamed, M. S., Elhelaly, W. M., Thet, S., Anene-Nzelu, C. G., Tan, W. L. W., Foo, R. S., Meng, X., Kanchwala, M., Xing, C., Roy, J., Cyert, M. S., Rothermel, B. A. & Sadek, H. A., Jun 11 2020, In : Nature. 582, 7811, p. 271-276 6 p.

Research output: Contribution to journalArticle

A molecular basis for neurofibroma-associated skeletal manifestations in NF1

Ma, Y., Gross, A. M., Dombi, E., Pemov, A., Choi, K., Chaney, K., Rhodes, S. D., Angus, S. P., Sciaky, N., Clapp, D. W., Ratner, N., Widemann, B. C., Rios, J. J. & Elefteriou, F., 2020, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

An in vivo functional genomics screen of nuclear receptors and their co-regulators identifies FOXA1 as an essential gene in lung tumorigenesis

Hight, S. K., Mootz, A., Kollipara, R. K., McMillan, E., Yenerall, P., Otaki, Y., Li, L. S., Avila, K., Peyton, M., Rodriguez-Canales, J., Mino, B., Villalobos, P., Girard, L., Dospoy, P., Larsen, J., White, M. A., Heymach, J. V., Wistuba, I. I., Kittler, R. & Minna, J. D., Aug 2020, In : Neoplasia (United States). 22, 8, p. 294-310 17 p.

Research output: Contribution to journalArticle

Open Access

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

Xu, C., Yang, X., Zhou, H., Li, Y., Xing, C., Zhou, T., Zhong, D., Lian, C., Yan, M., Chen, T., Liao, Z., Gao, B., Su, D., Wang, T., Sharma, S., Mohan, C., Ahituv, N., Malik, S., Li, Q. Z. & Su, P., Jan 1 2020, In : Genetics in Medicine. 22, 1, p. 189-198 10 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations
Open Access

Chemical intervention of influenza virus mRNA nuclear export

Esparza, M., Mor, A., Niederstrasser, H., White, K., White, A., Zhang, K., Gao, S., Wang, J., Liang, J., Sho, S., Sakthivel, R., Sathe, A. A., Xing, C., Muñoz-Moreno, R., Shay, J. W., García-Sastre, A., Ready, J., Posner, B. & Fontoura, B. M. A., Apr 1 2020, In : PLoS pathogens. 16, 4, e1008407.

Research output: Contribution to journalArticle

Open Access

Clinical exome studies have inconsistent coverage

Gotway, G., Crossley, E., Kozlitina, J., Xing, C., Fan, J., Hornbuckle, C., Thies, J., Michel, D., Quinn, C., Scheuerle, A. E., Umana, L. A., Uhles, C. L. & Park, J. Y., 2020, In : Clinical chemistry. 66, 1, p. 199-206 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Controlled Ovarian Stimulation Protocols Alter Endometrial Histomorphology and Gene Expression Profiles

Wu, J. L., Keller, P., Kanchwala, M., Xing, C., Babayev, S. N., Carr, B. R., Bukulmez, O. & Word, R. A., Mar 1 2020, In : Reproductive Sciences. 27, 3, p. 895-904 10 p.

Research output: Contribution to journalArticle

Does Tumor FDG-PET Avidity Represent Enhanced Glycolytic Metabolism in Non-Small Cell Lung Cancer?

Kernstine, K. H., Faubert, B., Do, Q. N., Rogers, T. J., Hensley, C. T., Cai, L., Torrealba, J., Oliver, D., Wachsmann, J. W., Lenkinski, R. E., Malloy, C. R. & Deberardinis, R. J., Apr 2020, In : Annals of Thoracic Surgery. 109, 4, p. 1019-1025 7 p.

Research output: Contribution to journalArticle

Espfu-mediated actin assembly enhances enteropathogenic escherichia coli adherence and activates host cell inflammatory signaling pathways

Martins, F. H., Kumar, A., Abe, C. M., Carvalho, E., Nishiyama-Jr, M., Xing, C., Sperandio, V. & Elias, W. P., Mar 1 2020, In : mBio. 11, 2, e00617-20.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

EWS-FLI1-regulated Serine Synthesis and Exogenous Serine are Necessary for Ewing Sarcoma Cellular Proliferation and Tumor Growth

Issaq, S. H., Mendoza, A., Kidner, R., Rosales, T. I., Duveau, D. Y., Heske, C. M., Rohde, J. M., Boxer, M. B., Thomas, C. J., DeBerardinis, R. J. & Helman, L. J., Jul 1 2020, In : Molecular Cancer Therapeutics. 19, 7, p. 1520-1529 10 p.

Research output: Contribution to journalArticle

GCNA Preserves Genome Integrity and Fertility Across Species

Bhargava, V., Goldstein, C. D., Russell, L., Xu, L., Ahmed, M., Li, W., Casey, A., Servage, K., Kollipara, R., Picciarelli, Z., Kittler, R., Yatsenko, A., Carmell, M., Orth, K., Amatruda, J. F., Yanowitz, J. L. & Buszczak, M., Jan 6 2020, In : Developmental cell. 52, 1, p. 38-52.e10

Research output: Contribution to journalArticle

6 Scopus citations

GEAMP, a novel gastroesophageal junction carcinoma cell line derived from a malignant pleural effusion

Zhang, W., Williams, T. A., Bhagwath, A. S., Hiermann, J. S., Peacock, C. D., Watkins, D. N., Ding, P., Park, J. Y., Montgomery, E. A., Forastiere, A. A., Jie, C., Cantarel, B. L., Pham, T. H. & Wang, D. H., Jan 1 2020, In : Laboratory Investigation. 100, 1, p. 16-26 11 p.

Research output: Contribution to journalArticle

HIF2-induced long noncoding RNA RAB11B-AS1 promotes hypoxia-mediated angiogenesis and breast cancer metastasis

Niu, Y., Bao, L., Chen, Y., Wang, C., Luo, M., Zhang, B., Zhou, M., Wang, J. E., Fang, Y. V., Kumar, A., Xing, C., Wang, Y. & Luo, W., Mar 1 2020, In : Cancer research. 80, 5, p. 964-975 12 p.

Research output: Contribution to journalArticle

7 Scopus citations

IL-1-conferred gene expression pattern in ERα+ BCa and AR+ PCa cells is intrinsic to ERα- BCa and AR- PCa cells and promotes cell survival

Nawas, A. F., Kanchwala, M., Thomas-Jardin, S. E., Dahl, H., Daescu, K., Bautista, M., Anunobi, V., Wong, A., Meade, R., Mistry, R., Ghatwai, N., Bayerl, F., Xing, C. & Delk, N. A., Jan 20 2020, In : BMC Cancer. 20, 1, 46.

Research output: Contribution to journalArticle

Open Access

Innate Immune Signaling Contributes to Tubular Cell Senescence in the Glis2 Knockout Mouse Model of Nephronophthisis

Jin, H., Zhang, Y., Liu, D., Wang, S. S., Ding, Q., Rastogi, P., Purvis, M., Wang, A., Elhadi, S., Ren, C., Cao, C., Chai, Y., Igarashi, P., Jetten, A. M., Lu, D. & Attanasio, M., Jan 2020, In : American Journal of Pathology. 190, 1, p. 176-189 14 p.

Research output: Contribution to journalArticle

2 Scopus citations

Lack of Association Between Radiographic Tumor Burden and Efficacy of Immune Checkpoint Inhibitors in Advanced Lung Cancer

Popat, V., Lu, R., Ahmed, M., Park, J. Y., Xie, Y. & Gerber, D. E., Jun 1 2020, In : Oncologist. 25, 6, p. 515-522 8 p.

Research output: Contribution to journalArticle

Open Access

Late-Onset Immunotherapy Toxicity and Delayed Autoantibody Changes: Checkpoint Inhibitor–Induced Raynaud's-Like Phenomenon

Khan, S., von Itzstein, M. S., Lu, R., Bermas, B. L., Karp, D. R., Khan, S. A., Fattah, F. J., Park, J. Y., Saltarski, J. M., Gloria-McCutchen, Y., Xie, Y., Li, Q. Z., Wakeland, E. K. & Gerber, D. E., May 1 2020, In : Oncologist. 25, 5, p. e753-e757

Research output: Contribution to journalArticle

Open Access

Mechanical regulation of glycolysis via cytoskeleton architecture

Park, J. S., Burckhardt, C. J., Lazcano, R., Solis, L. M., Isogai, T., Li, L., Chen, C. S., Gao, B., Minna, J. D., Bachoo, R., DeBerardinis, R. J. & Danuser, G., Feb 27 2020, In : Nature. 578, 7796, p. 621-626 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Metabolic heterogeneity confers differences in melanoma metastatic potential

Tasdogan, A., Faubert, B., Ramesh, V., Ubellacker, J. M., Shen, B., Solmonson, A., Murphy, M. M., Gu, Z., Gu, W., Martin, M., Kasitinon, S. Y., Vandergriff, T., Mathews, T. P., Zhao, Z., Schadendorf, D., DeBerardinis, R. J. & Morrison, S. J., Jan 2 2020, In : Nature. 577, 7788, p. 115-120 6 p.

Research output: Contribution to journalArticle

16 Scopus citations

Mithramycin suppresses DNA damage repair via targeting androgen receptor in prostate cancer

Wang, S., Gilbreath, C., Kollipara, R. K., Sonavane, R., Huo, X., Yenerall, P., Das, A., Ma, S., Raj, G. V. & Kittler, R., Sep 28 2020, In : Cancer Letters. 488, p. 40-49 10 p.

Research output: Contribution to journalArticle

Mitochondrial substrate utilization regulates cardiomyocyte cell-cycle progression

Cardoso, A. C., Lam, N. T., Savla, J. J., Nakada, Y., Pereira, A. H. M., Elnwasany, A., Menendez-Montes, I., Ensley, E. L., Bezan Petric, U., Sharma, G., Sherry, A. D., Malloy, C. R., Khemtong, C., Kinter, M. T., Tan, W. L. W., Anene-Nzelu, C. G., Foo, R. S. Y., Nguyen, N. U. N., Li, S., Ahmed, M. S. & 14 others, Elhelaly, W. M., Abdisalaam, S., Asaithamby, A., Xing, C., Kanchwala, M., Vale, G., Eckert, K. M., Mitsche, M. A., McDonald, J. G., Hill, J. A., Huang, L., Shaul, P. W., Szweda, L. I. & Sadek, H. A., Feb 1 2020, In : Nature Metabolism. 2, 2, p. 167-178 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

Patel, C., Khanshour, A. M., Wilkes, D., Rios, J. J., Sheff, K. W., Nassi, L. & Wise, C. A., Jan 1 2020, (Accepted/In press) In : Clinical Case Reports.

Research output: Contribution to journalArticle

Open Access

Preclinical evaluation of CD8+ anti-BCMA mRNA CAR T cells for treatment of multiple myeloma

Lin, L., Cho, S. F., Xing, L., Wen, K., Li, Y., Yu, T., Hsieh, P. A., Chen, H., Kurtoglu, M., Zhang, Y., Andrew Stewart, C., Munshi, N., Anderson, K. C. & Tai, Y. T., 2020, (Accepted/In press) In : Leukemia.

Research output: Contribution to journalArticle

Prevalence of pectus excavatum in an adult population-based cohort estimated from radiographic indices of chest wall shape

Biavati, M., Kozlitina, J., Alder, A. C., Foglia, R., McColl, R. W., Peshock, R. M., Kelly, R. E. & Garcia, C. K., May 2020, In : PloS one. 15, 5, e0232575.

Research output: Contribution to journalArticle

Open Access

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

Iqbal, N. S., Jascur, T. A., Harrison, S. M., Edwards, A. B., Smith, L. T., Choi, E. S., Arevalo, M. K., Chen, C., Zhang, S., Kern, A. J., Scheuerle, A. E., Sanchez, E. J., Xing, C. & Baker, L. A., Feb 21 2020, In : BMC Medical Genetics. 21, 1, 38.

Research output: Contribution to journalArticle

Open Access

Regulation of branched-chain amino acid metabolism by hypoxia-inducible factor in glioblastoma

Zhang, B., Chen, Y., Shi, X., Zhou, M., Bao, L., Hatanpaa, K. J., Patel, T., DeBerardinis, R. J., Wang, Y. & Luo, W., Jan 1 2020, (Accepted/In press) In : Cellular and Molecular Life Sciences.

Research output: Contribution to journalArticle

1 Scopus citations

Reinterpretation of Chromosomal Microarrays with Detailed Medical History

Farooqi, M. S., Figueroa, S., Gotway, G., Wang, J., Luu, H. S. & Park, J. Y., Jul 2020, In : Journal of Pediatrics. 222, p. 180-185.e1

Research output: Contribution to journalArticle

RELA is sufficient to mediate interleukin-1 repression of androgen receptor expression and activity in an LNCaP disease progression model

Thomas-Jardin, S. E., Dahl, H., Kanchwala, M. S., Ha, F., Jacob, J., Soundharrajan, R., Bautista, M., Nawas, A. F., Robichaux, D., Mistry, R., Anunobi, V., Xing, C. & Delk, N. A., Feb 1 2020, In : Prostate. 80, 2, p. 133-145 13 p.

Research output: Contribution to journalArticle

1 Scopus citations

RUVBL1/RUVBL2 ATPase Activity Drives PAQosome Maturation, DNA Replication and Radioresistance in Lung Cancer

Yenerall, P., Das, A. K., Wang, S., Kollipara, R. K., Li, L. S., Villalobos, P., Flaming, J., Lin, Y. F., Huffman, K., Timmons, B. C., Gilbreath, C., Sonavane, R., Kinch, L. N., Rodriguez-Canales, J., Moran, C., Behrens, C., Hirasawa, M., Takata, T., Murakami, R., Iwanaga, K. & 6 others, Chen, B. P. C., Grishin, N. V., Raj, G. V., Wistuba, I. I., Minna, J. D. & Kittler, R., Jan 16 2020, In : Cell Chemical Biology. 27, 1, p. 105-121.e14

Research output: Contribution to journalArticle

1 Scopus citations

SOX4-mediated repression of specific tRNAs inhibits proliferation of human glioblastoma cells

Yang, J., Smith, D. K., Ni, H., Wu, K., Huang, D., Pan, S., Sathe, A. A., Tang, Y., Liu, M-L., Xing, C., Zhang, C. L. & Zhuge, Q., Mar 17 2020, In : Proceedings of the National Academy of Sciences of the United States of America. 117, 11, p. 5782-5790 9 p.

Research output: Contribution to journalArticle

Statin Intolerance, Anti-HMGCR Antibodies, and Immune Checkpoint Inhibitor-Associated Myositis: A “Two-Hit” Autoimmune Toxicity or Clinical Predisposition?

von Itzstein, M. S., Khan, S., Popat, V., Lu, R., Khan, S. A., Fattah, F. J., Park, J. Y., Bermas, B. L., Karp, D. R., Ahmed, M., Saltarski, J. M., Gloria-McCutchen, Y., Xie, Y., Li, Q. Z., Wakeland, E. K. & Gerber, D. E., 2020, (Accepted/In press) In : Oncologist.

Research output: Contribution to journalArticle

Open Access

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease

Chen, W., Lin, J., Wang, L., Li, X., Zhao, S., Liu, J., Akdemir, Z. C., Zhao, Y., Du, R., Ye, Y., Song, X., Zhang, Y., Yan, Z., Yang, X., Lin, M., Shen, J., Wang, S., Gao, N., Yang, Y., Liu, Y. & 16 others, Li, W., Liu, J., Zhang, N., Yang, X., Xu, Y., Zhang, J., Delgado, M. R., Posey, J. E., Qiu, G., Rios, J. J., Liu, P., Wise, C. A., Zhang, F., Wu, Z., Lupski, J. R. & Wu, N., Jan 1 2020, In : Human mutation. 41, 1, p. 182-195 14 p.

Research output: Contribution to journalArticle

3 Scopus citations

Tumor microenvironment, metabolism, and immunotherapy

DeBerardinis, R. J., Feb 27 2020, In : New England Journal of Medicine. 382, 9, p. 869-871 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Urethral luminal epithelia are castration-insensitive cells of the proximal prostate

Joseph, D. B., Henry, G. H., Malewska, A., Iqbal, N. S., Ruetten, H. M., Turco, A. E., Abler, L. L., Sandhu, S. K., Cadena, M. T., Malladi, V. S., Reese, J. C., Mauck, R. J., Gahan, J. C., Hutchinson, R. C., Roehrborn, C. G., Baker, L. A., Vezina, C. M. & Strand, D. W., Aug 1 2020, In : Prostate. 80, 11, p. 872-884 13 p.

Research output: Contribution to journalArticle

Using arterial–venous analysis to characterize cancer metabolic consumption in patients

Xiong, N., Gao, X., Zhao, H., Cai, F., Zhang, F. C., Yuan, Y., Liu, W., He, F., Zacharias, L. G., Lin, H., Vu, H. S., Xing, C., Yao, D. X., Chen, F., Luo, B., Sun, W., DeBerardinis, R. J., Xu, H. & Ge, W. P., Dec 1 2020, In : Nature communications. 11, 1, 3169.

Research output: Contribution to journalArticle

Open Access

α-ketobutyrate links alterations in cystine metabolism to glucose oxidation in mtDNA mutant cells

Lesner, N. P., Gokhale, A. S., Kota, K., DeBerardinis, R. J. & Mishra, P., Jul 2020, In : Metabolic Engineering. 60, p. 157-167 11 p.

Research output: Contribution to journalArticle

Open Access
2019

Accumulation of PNPLA3 on lipid droplets is the basis of associated hepatic steatosis

BasuRay, S., Wang, Y., Smagris, E., Cohen, J. C. & Hobbs, H. H., May 7 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 19, p. 9521-9526 6 p.

Research output: Contribution to journalArticle

Open Access
35 Scopus citations
1 Scopus citations

AIF: an acquired metabolic liability in lung cancer

Faubert, B., DeBerardinis, R. J. & Minna, J. D., Aug 1 2019, In : Cell Research. 29, 8, p. 607-608 2 p.

Research output: Contribution to journalArticle

Open Access

An African-specific haplotype in MRGPRX4 is associated with menthol cigarette smoking

Kozlitina, J., Risso, D., Lansu, K., Olsen, R. H. J., Sainz, E., Luiselli, D., Barik, A., Frigerio-Domingues, C., Pagani, L., Wooding, S., Kirchner, T., Niaura, R., Roth, B. & Drayna, D., Feb 1 2019, In : PLoS genetics. 15, 2, p. e1007916

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant

Patni, N., Hatab, S., Xing, C., Zhou, Z., Quittner, C. & Garg, A., 2019, (Accepted/In press) In : Journal of medical genetics. 106395.

Research output: Contribution to journalArticle

A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

Paulraj, P., Bosworth, M., Longhurst, M., Hornbuckle, C., Gotway, G. K., Lamb, A. N. & Andersen, E. F., Jan 1 2019, (Accepted/In press) In : Cytogenetic and Genome Research.

Research output: Contribution to journalArticle

A novel mitochondrial inhibitor blocks MAPK pathway and overcomes MAPK inhibitor resistance in melanoma

Gopal, Y. N. V., Gammon, S., Prasad, R., Knighton, B., Pisaneschi, F., Roszik, J., Feng, N., Johnson, S., Pramanik, S., Sudderth, J., Sui, D., Hudgens, C., Fischer, G. M., Deng, W., Reuben, A., Peng, W., Wang, J., McQuade, J. L., Tetzlaff, M. T., Di Francesco, M. E. & 4 others, Marszalek, J., Piwnica-Worms, D., DeBerardinis, R. J. & Davies, M. A., Nov 1 2019, In : Clinical Cancer Research. 25, 21, p. 6429-6442 14 p.

Research output: Contribution to journalArticle

5 Scopus citations

Autophagy Regulation of Metabolism Is Required for CD8 + T Cell Anti-tumor Immunity

DeVorkin, L., Pavey, N., Carleton, G., Comber, A., Ho, C., Lim, J., McNamara, E., Huang, H., Kim, P., Zacharias, L. G., Mizushima, N., Saitoh, T., Akira, S., Beckham, W., Lorzadeh, A., Moksa, M., Cao, Q., Murthy, A., Hirst, M., DeBerardinis, R. J. & 1 others, Lum, J. J., Apr 9 2019, In : Cell Reports. 27, 2, p. 502-513.e5

Research output: Contribution to journalArticle

Open Access
18 Scopus citations

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Tarnauskaitė, Ž., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., Bober, M. B., de Silva, D. C., Duker, A. L., Sillence, D., Wise, C., Jackson, A. P., Murina, O. & Reijns, M. A. M., 2019, In : Human mutation. 40, 8, p. 1063-1070 8 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency

Jakkamsetti, V., Marin-Valencia, I., Ma, Q., Good, L. B., Terrill, T., Rajasekaran, K., Pichumani, K., Khemtong, C., Hooshyar, M. A., Sundarrajan, C., Patel, M. S., Bachoo, R. M., Malloy, C. R. & Pascual, J. M., Jan 1 2019, In : Science Translational Medicine. 11, 480, aan0457.

Research output: Contribution to journalArticle

4 Scopus citations

Clinical chemistry’s special issue on men’s health

Park, J. Y., Deutsch, M. B., Koenig, W., Lilja, H. & Platz, E. A., Jan 1 2019, In : Clinical Chemistry. 65, 1, p. 1-3 3 p.

Research output: Contribution to journalArticle