Eugene Mcdermott Center For Human Growth & Development

Research Output 1983 2019

2019
7 Citations (Scopus)

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
Phospholipases
Liver
Triglycerides
Fatty Liver
Liver Diseases
Gluconeogenesis
Pyruvic Acid
Hepatocellular Carcinoma
Oxidoreductases
Pyruvate Carboxylase
3 Citations (Scopus)

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
Menthol
menthol
smoking (habit)
smoking
Haplotypes

A NIK–SIX signalling axis controls inflammation by targeted silencing of non-canonical NF-κB

Liu, Z., Mar, K. B., Hanners, N. W., Perelman, S. S., Kanchwala, M., Xing, C., Schoggins, J. W. & Alto, N. M., Jan 1 2019, In : Nature.

Research output: Contribution to journalLetter

Transcription Factors
Inflammation
Organogenesis
Homeobox Genes
Immune System Diseases

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

Intellectual Disability
Single Nucleotide Polymorphism
Genes
Chromosomes, Human, Pair 13
Mutation

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

Oxidative Phosphorylation
Melanoma
AMP-Activated Protein Kinases
Glucose
Metabolomics

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 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
Polydactyly
Limb Buds
Hedgehogs
Caco-2 Cells
HEK293 Cells

Author Correction: CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells (Nature, (2017), 546, 7656, (168-172), 10.1038/nature22359)

Kim, J., Hu, Z., Cai, L., Li, K., Choi, E., Faubert, B., Bezwada, D., Rodriguez-Canales, J., Villalobos, P., Lin, Y. F., Ni, M., Huffman, K. E., Girard, L., Byers, L. A., Unsal-Kacmaz, K., Peña, C. G., Heymach, J. V., Wauters, E., Vansteenkiste, J., Castrillon, D. H. & 6 others, Chen, B. P. C., Wistuba, I., Lambrechts, D., Xu, J., Minna, J. D. & DeBerardinis, R. J., May 16 2019, In : Nature. 569, 7756, p. E4

Research output: Contribution to journalComment/debate

Open Access
Carbamyl Phosphate
Lung Neoplasms
DNA
pyrimidine
phosphorylethanolamine

Author Reply to “Letter to the Editor on: Bladder Agenesis and Associated Pelvic Arterial Anomaly in 2 Female Pediatric Patients” (#URL-D-19-00427)

Lowrey, T., Josephs, S. C. & Baker, L. A., Jul 1 2019, In : Urology. 129, p. 238-239 2 p.

Research output: Contribution to journalLetter

Urinary Bladder
Pediatrics
5 Citations (Scopus)

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
T-cells
Autophagy
Metabolism
Tumors
Immunity
1 Citation (Scopus)

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. A., Jackson, A. P., Murina, O. & Reijns, M. A. M., Jan 1 2019, In : Human Mutation. 40, 8, p. 1063-1070 8 p.

Research output: Contribution to journalArticle

Open Access
Dwarfism
Adenosine Triphosphate
Adenosine Diphosphate
Genes
Body Size
2 Citations (Scopus)

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., Malloy, C. R. & Pascual, J. M., Jan 1 2019, In : Science Translational Medicine. 11, 480, aan0457.

Research output: Contribution to journalArticle

Pyruvate Dehydrogenase Complex Deficiency Disease
Citric Acid Cycle
Brain
Glutamic Acid
Pyruvic Acid

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

Men's Health
Clinical Chemistry
Acute Myeloid Leukemia
Gene Amplification
docetaxel
Leukemia
Breast Neoplasms

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

Sadler, B., Haller, G., Antunes, L., Bledsoe, X., Morcuende, J., Giampietro, P., Raggio, C., Miller, N., Kidane, Y., Wise, C. A., Amarillo, I., Walton, N., Seeley, M., Johnson, D., Jenkins, C., Jenkins, T., Oetjens, M., Tong, R. S., Druley, T. E., Dobbs, M. B. & 1 others, Gurnett, C. A., Jan 1 2019, In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Open Access
Chromosome Duplication
Scoliosis
Chromosomes
Exome
Electronic Health Records
1 Citation (Scopus)

Duplex RNAs and ss-siRNAs Block RNA Foci Associated with Fuchs' Endothelial Corneal Dystrophy

Hu, J., Shen, X., Rigo, F., Prakash, T. P., Mootha, V. & Corey, D. R., Apr 1 2019, In : Nucleic Acid Therapeutics. 29, 2, p. 73-81 9 p.

Research output: Contribution to journalArticle

Fuchs' Endothelial Dystrophy
Antisense Oligonucleotides
RNA Interference
RNA
Eye Diseases
17 Citations (Scopus)

Evidence for an alternative fatty acid desaturation pathway increasing cancer plasticity

Vriens, K., Christen, S., Parik, S., Broekaert, D., Yoshinaga, K., Talebi, A., Dehairs, J., Escalona-Noguero, C., Schmieder, R., Cornfield, T., Charlton, C., Romero-Pérez, L., Rossi, M., Rinaldi, G., Orth, M. F., Boon, R., Kerstens, A., Kwan, S. Y., Faubert, B., Méndez-Lucas, A. & 26 others, Kopitz, C. C., Chen, T., Fernandez-Garcia, J., Duarte, J. A. G., Schmitz, A. A., Steigemann, P., Najimi, M., Hägebarth, A., Van Ginderachter, J. A., Sokal, E., Gotoh, N., Wong, K. K., Verfaillie, C., Derua, R., Munck, S., Yuneva, M., Beretta, L., DeBerardinis, R. J., Swinnen, J. V., Hodson, L., Cassiman, D., Verslype, C., Christian, S., Grünewald, S., Grünewald, T. G. P. & Fendt, S. M., Feb 21 2019, In : Nature. 566, 7744, p. 403-406 4 p.

Research output: Contribution to journalLetter

Fatty Acids
Neoplasms
Stearoyl-CoA Desaturase
Palmitates
Lipid Metabolism
2 Citations (Scopus)

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

Ni, M., Solmonson, A., Pan, C., Yang, C., Li, D., Notzon, A., Cai, L., Guevara, G., Zacharias, L. G., Faubert, B., Vu, H. S., Jiang, L., Ko, B., Morales, N. M., Pei, J., Vale, G., Rakheja, D., Grishin, N. V., McDonald, J. G., Gotway, G. K. & 3 others, McNutt, M. C., Pascual, J. M. & DeBerardinis, R. J., Apr 30 2019, In : Cell Reports. 27, 5, p. 1376-1386.e6

Research output: Contribution to journalArticle

Open Access
Functional assessment
Inborn Errors Metabolism
Metabolomics
Genomics
Metabolism

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 2019, In : Laboratory Investigation.

Research output: Contribution to journalArticle

Malignant Pleural Effusion
Esophagogastric Junction
Carcinoma
Cell Line
Neoplasms
1 Citation (Scopus)

Genome-Wide Analysis of Glioblastoma Patients with Unexpectedly Long Survival

Richardson, T. E., Patel, S., Serrano, J., Sathe, A. A., Daoud, E. V., Oliver, D. H., Maher, E. A., Madrigales, A., Mickey, B. E., Taxter, T., Jour, G., White, C. L., Raisanen, J. M., Xing, C., Snuderl, M. & Hatanpaa, K. J., Jun 1 2019, In : Journal of neuropathology and experimental neurology. 78, 6, p. 501-507 7 p.

Research output: Contribution to journalArticle

Glioblastoma
Genome
Methylation
Survival
Neoplasms

Genomic testing in pediatric epilepsy

Thodeson, D. M. & Park, J. Y., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 4

Research output: Contribution to journalReview article

Open Access
Pediatrics
Epilepsy
Testing
Standard of Care
Genes

Hand2 Selectively Reorganizes Chromatin Accessibility to Induce Pacemaker-like Transcriptional Reprogramming

Fernandez-Perez, A., Sathe, A. A., Bhakta, M., Leggett, K., Xing, C. & Munshi, N. V., May 21 2019, In : Cell Reports. 27, 8, p. 2354-2369.e7

Research output: Contribution to journalArticle

Open Access
Pacemakers
Muscle Cells
Chromatin
Desmosomes
Sarcomeres

Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr; HBB: c.122G>C (p.Arg41Thr)] with Increased Oxygen Affinity

Luu, H. S., McCavit, T. L., Park, J. Y., Mitui, M., Lopez, D. D. & Timmons, C. F., May 4 2019, In : Hemoglobin. 43, 3, p. 204-206 3 p.

Research output: Contribution to journalArticle

Globins
Hemoglobins
Oxygen
Substitution reactions
Threonine
4 Citations (Scopus)
Colonoscopy
Randomized Controlled Trials
Propofol
Clinical Trials Data Monitoring Committees
Deep Sedation

Homozygous rare Parn missense mutation in familial pulmonary fibrosis

Zhang, D., Zhou, Z., Abu-Hijleh, M. A., Batra, K., Xing, C. & Garcia, C. K., Mar 15 2019, In : American Journal of Respiratory and Critical Care Medicine. 199, 6, p. 797-799 3 p.

Research output: Contribution to journalLetter

Pulmonary Fibrosis
Missense Mutation
4 Citations (Scopus)

IMP dehydrogenase-2 drives aberrant nucleolar activity and promotes tumorigenesis in glioblastoma

Kofuji, S., Hirayama, A., Eberhardt, A. O., Kawaguchi, R., Sugiura, Y., Sampetrean, O., Ikeda, Y., Warren, M., Sakamoto, N., Kitahara, S., Yoshino, H., Yamashita, D., Sumita, K., Wolfe, K., Lange, L., Ikeda, S., Shimada, H., Minami, N., Malhotra, A., Morioka, S. & 37 others, Ban, Y., Asano, M., Flanary, V. L., Ramkissoon, A., Chow, L. M. L., Kiyokawa, J., Mashimo, T., Lucey, G., Mareninov, S., Ozawa, T., Onishi, N., Okumura, K., Terakawa, J., Daikoku, T., Wise-Draper, T., Majd, N., Kofuji, K., Sasaki, M., Mori, M., Kanemura, Y., Smith, E. P., Anastasiou, D., Wakimoto, H., Holland, E. C., Yong, W. H., Horbinski, C., Nakano, I., DeBerardinis, R. J., Bachoo, R. M., Mischel, P. S., Yasui, W., Suematsu, M., Saya, H., Soga, T., Grummt, I., Bierhoff, H. & Sasaki, A. T., Aug 1 2019, In : Nature Cell Biology. 21, 8, p. 1003-1014 12 p.

Research output: Contribution to journalArticle

IMP Dehydrogenase
Glioblastoma
Carcinogenesis
Transfer RNA
Guanine Nucleotides

Induction of LEF1 by MYC activates the WNT pathway and maintains cell proliferation

Hao, Y. H., Lafita-Navarro, M. C., Zacharias, L., Borenstein-Auerbach, N., Kim, M., Barnes, S., Kim, J., Shay, J., Deberardinis, R. J. & Conacci-Sorrell, M., Oct 17 2019, In : Cell Communication and Signaling. 17, 1, 129.

Research output: Contribution to journalArticle

Open Access
Cell proliferation
Genes
Cell Proliferation
Catenins
Colonic Neoplasms

Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal Life

Harrison, S. M., Bush, N. C., Wang, Y., Mucher, Z. R., Lorenzo, A. J., Grimsby, G. M., Schlomer, B. J., Büllesbach, E. E. & Baker, L. A., Sep 4 2019, In : Frontiers in Endocrinology. 10, 596.

Research output: Contribution to journalArticle

Open Access
Insulin
Peptides
Serum
Fetal Blood
Testis
Open Access
Acute Kidney Injury
Thoracic Surgery
Biomarkers
Kidney
Cardiopulmonary Bypass
3 Citations (Scopus)

Legal and ethical implications of defining an optimum means of achieving unconsciousness in assisted dying

Sinmyee, S., Pandit, V. J., Pascual, J. M., Dahan, A., Heidegger, T., Kreienbühl, G., Lubarsky, D. A. & Pandit, J. J., May 1 2019, In : Anaesthesia. 74, 5, p. 630-637 8 p.

Research output: Contribution to journalArticle

Open Access
Unconsciousness
Capital Punishment
Intraoperative Awareness
General Anesthetics
Helium
8 Citations (Scopus)

LKB1 and KEAP1/NRF2 pathways cooperatively promote metabolic reprogramming with enhanced glutamine dependence inKRAS-mutant lung adenocarcinoma

Galan-Cobo, A., Sitthideatphaiboon, P., Qu, X., Poteete, A., Pisegna, M. A., Tong, P., Chen, P. H., Boroughs, L. K., Rodriguez, M. L. M., Zhang, W., Parlati, F., Wang, J., Gandhi, V., Skoulidis, F., DeBerardinis, R. J., Minna, J. D. & Heymach, J. V., Jan 1 2019, In : Cancer Research. 79, 13, p. 3251-3267 17 p.

Research output: Contribution to journalArticle

Glutamine
Glutaminase
Oxidation-Reduction
NADP
Neoplasms
4 Citations (Scopus)

Loss of EZH2 Reprograms BCAA Metabolism to Drive Leukemic Transformation

Gu, Z., Liu, Y., Cai, F., Patrick, M., Zmajkovic, J., Cao, H., Zhang, Y., Tasdogan, A., Chen, M., Qi, L., Liu, X., Li, K., Lyu, J., Dickerson, K. E., Chen, W., Ni, M., Merritt, M. E., Morrison, S. J., Skoda, R. C., DeBerardinis, R. J. & 1 others, Xu, J., Sep 1 2019, In : Cancer discovery. 9, 9, p. 1228-1247 20 p.

Research output: Contribution to journalArticle

Branched Chain Amino Acids
Epigenomics
Neoplasms
Leukemia
Myeloid Leukemia
1 Citation (Scopus)

Mechanisms and Implications of Metabolic Heterogeneity in Cancer

Kim, J. & DeBerardinis, R. J., Sep 3 2019, In : Cell Metabolism. 30, 3, p. 434-446 13 p.

Research output: Contribution to journalReview article

Neoplasms
Tumor Microenvironment
Cellular Microenvironment
Intrinsic Factor
Glycolysis
1 Citation (Scopus)

Metabolic Profiling Using Stable Isotope Tracing Reveals Distinct Patterns of Glucose Utilization by Physiologically Activated CD8+ T Cells

Ma, E. H., Verway, M. J., Johnson, R. M., Roy, D. G., Steadman, M., Hayes, S., Williams, K. S., Sheldon, R. D., Samborska, B., Kosinski, P. A., Kim, H., Griss, T., Faubert, B., Condotta, S. A., Krawczyk, C. M., DeBerardinis, R. J., Stewart, K. M., Richer, M. J., Chubukov, V., Roddy, T. P. & 1 others, Jones, R. G., Nov 19 2019, In : Immunity. 51, 5, p. 856-870.e5

Research output: Contribution to journalArticle

Isotopes
T-Lymphocytes
Glucose
Serine
Energy Metabolism
9 Citations (Scopus)

Molecular profiling reveals unique immune and metabolic features of melanoma brain metastases

Fischer, G. M., Jalali, A., Kircher, D. A., Lee, W. C., McQuade, J. L., Haydu, L. E., Joon, A. Y., Reuben, A., de Macedo, M. P., Carapeto, F. C. L., Yang, C., Srivastava, A., Ambati, C. R., Sreekumar, A., Hudgens, C. W., Knighton, B., Deng, W., Ferguson, S. D., Tawbi, H. A., Glitza, I. C. & 14 others, Gershenwald, J. E., Vashisht Gopal, Y. N., Hwu, P., Huse, J. T., Wargo, J. A., Andrew Futreal, P., Putluri, N., Lazar, A. J., DeBerardinis, R. J., Marszalek, J. R., Zhang, J., Holmen, S. L., Tetzlaff, M. T. & Davies, M. A., May 1 2019, In : Cancer discovery. 9, 5, p. 628-645 18 p.

Research output: Contribution to journalArticle

Melanoma
Neoplasm Metastasis
Brain
Oxidative Phosphorylation
Heterografts

MYC-driven small-cell lung cancer is metabolically distinct and vulnerable to arginine depletion

Chalishazar, M. D., Wait, S. J., Huang, F., Ireland, A. S., Mukhopadhyay, A., Lee, Y., Schuman, S. S., Guthrie, M. R., Berrett, K. C., Vahrenkamp, J. M., Hu, Z., Kudla, M., Modzelewska, K., Wang, G., Ingolia, N. T., Gertz, J., Lum, D. H., Cosulich, S. C., Bomalaski, J. S., DeBerardinis, R. J. & 1 others, Oliver, T. G., Aug 15 2019, In : Clinical Cancer Research. 25, 16, p. 5107-5121 15 p.

Research output: Contribution to journalArticle

Open Access
Small Cell Lung Carcinoma
Arginine
Heterografts
Cell Line
Neoplasms

MYC promotes tryptophan uptake and metabolism by the kynurenine pathway in colon cancer

Venkateswaran, N., Lafita-Navarro, M. C., Hao, Y. H., Kilgore, J. A., Perez-Castro, L., Braverman, J., Borenstein-Auerbach, N., Kim, M., Lesner, N. P., Mishra, P., Brabletz, T., Shay, J. W., DeBerardinis, R. J., Williams, N. S., Yilmaz, O. H. & Conacci-Sorrell, M., Sep 1 2019, In : Genes & development. 33, 17-18, p. 1236-1251 16 p.

Research output: Contribution to journalArticle

Open Access
Kynurenine
Tryptophan
Colonic Neoplasms
Arylformamidase
Large Neutral Amino Acid-Transporter 1
2 Citations (Scopus)

p63 and SOX2 Dictate Glucose Reliance and Metabolic Vulnerabilities in Squamous Cell Carcinomas

Hsieh, M. H., Choe, J. H., Gadhvi, J., Kim, Y. J., Arguez, M. A., Palmer, M., Gerold, H., Nowak, C., Do, H., Mazambani, S., Knighton, J. K., Cha, M., Goodwin, J., Kang, M. K., Jeong, J. Y., Lee, S. Y., Faubert, B., Xuan, Z., Abel, E. D., Scafoglio, C. & 11 others, Shackelford, D. B., Minna, J. D., Singh, P. K., Shulaev, V., Bleris, L., Hoyt, K., Kim, J., Inoue, M., DeBerardinis, R. J., Kim, T. H. & Kim, J. W., Aug 13 2019, In : Cell Reports. 28, 7, p. 1860-1878.e9

Research output: Contribution to journalArticle

Open Access
Squamous Cell Carcinoma
Glucose
Ketogenic Diet
Tumors
Neoplasms

Packed red blood cell transfusion associates with acute kidney injury after transcatheter aortic valve replacement

Merchant, A. M., Neyra, J. A., Minhajuddin, A. T. M., Wehrmann, L. E., Mills, R. A., Gualano, S. K., Kumbhani, D. J., Huffman, L., Jessen, M. E. & Fox, A. A., Jun 11 2019, In : BMC Anesthesiology. 19, 1, 99.

Research output: Contribution to journalArticle

Open Access
Erythrocyte Transfusion
Acute Kidney Injury
Thoracic Surgery
Morbidity
Transcatheter Aortic Valve Replacement

PAN-INTACT enables direct isolation of lineage-specific nuclei from fibrous tissues

Bhattacharyya, S., Sathe, A. A., Bhakta, M., Xing, C. & Munshi, N. V., Apr 1 2019, In : PloS one. 14, 4, e0214677.

Research output: Contribution to journalArticle

Open Access
Tissue
Chromatin
Transposases
Endothelial cells
cells
3 Citations (Scopus)

Persistent increase in mitochondrial superoxide mediates cisplatin-induced chronic kidney disease

Mapuskar, K. A., Wen, H., Holanda, D. G., Rastogi, P., Steinbach, E., Han, R., Coleman, M. C., Attanasio, M., Riley, D. P., Spitz, D. R., Allen, B. G. & Zepeda-Orozco, D., Jan 1 2019, In : Redox Biology. 20, p. 98-106 9 p.

Research output: Contribution to journalArticle

Chronic Renal Insufficiency
Superoxides
Cisplatin
Kidney
Metabolism
8 Citations (Scopus)

PNPLA3, CGI-58, and Inhibition of Hepatic Triglyceride Hydrolysis in Mice

Wang, Y., Kory, N., BasuRay, S., Cohen, J. C. & Hobbs, H. H., Jan 1 2019, In : Hepatology.

Research output: Contribution to journalArticle

Open Access
Phospholipases
Triglycerides
Hydrolysis
Lipase
Liver

Privacy in Direct-to-Consumer Genetic Testing

Park, J. Y., Risher, M. T., Caulfield, T., Baudhuin, L. M. & Schwab, A. P., May 1 2019, In : Clinical chemistry. 65, 5, p. 612-617 6 p.

Research output: Contribution to journalArticle

Open Access
Privacy
Genetic Testing
Testing
Direct-To-Consumer Screening and Testing
Open Access
Corneal Endothelium
RNA
Endothelial Cells
Fuchs' Endothelial Dystrophy
Nuclear RNA
1 Citation (Scopus)

Radiation-induced DNA damage cooperates with heterozygosity of TP53 and PTEN to generate high-grade gliomas

Todorova, P. K., Fletcher-Sananikone, E., Mukherjee, B., Kollipara, R., Vemireddy, V., Xie, X-J., Guida, P. M., Story, M. D., Hatanpaa, K., Habib, A. A., Kittler, R., Bachoo, R., Hromas, R., Floyd, J. R. & Burma, S., Jan 1 2019, In : Cancer Research. 79, 14, p. 3749-3761 13 p.

Research output: Contribution to journalArticle

Glioma
DNA Damage
Radiation
Linear Energy Transfer
Neoplasms
4 Citations (Scopus)

Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease

Pelusi, S., Baselli, G., Pietrelli, A., Dongiovanni, P., Donati, B., McCain, M. V., Meroni, M., Fracanzani, A. L., Romagnoli, R., Petta, S., Grieco, A., Miele, L., Soardo, G., Bugianesi, E., Fargion, S., Aghemo, A., D’Ambrosio, R., Xing, C., Romeo, S., De Francesco, R. & 2 others, Reeves, H. L. & Valenti, L. V. C., Dec 1 2019, In : Scientific Reports. 9, 1, 3682.

Research output: Contribution to journalArticle

Hepatocellular Carcinoma
Liver Neoplasms
Non-alcoholic Fatty Liver Disease
HDL Cholesterol
Genes

Rational Reprogramming of Cellular States by Combinatorial Perturbation

Duan, J., Li, B., Bhakta, M., Xie, S., Zhou, P., Munshi, N. V. & Hon, G., Jun 18 2019, In : Cell Reports. 27, 12, p. 3486-3499.e6

Research output: Contribution to journalArticle

Open Access
Transcription Factors
Regenerative Medicine
Libraries
Cellular Reprogramming
Atlases
1 Citation (Scopus)

Systematic analysis of gene expression in lung adenocarcinoma and squamous cell carcinoma with a case study of FAM83A and FAM83B

Cai, L., Luo, D., Yao, B., Yang, D. M., Lin, S., Girard, L., Deberardinis, R. J., Minna, J. D., Xie, Y. & Xiao, G., Jun 1 2019, In : Cancers. 11, 6, 886.

Research output: Contribution to journalArticle

Open Access
Squamous Cell Carcinoma
Lung Neoplasms
Gene Expression
Databases
Neoplasm Genes
1 Citation (Scopus)

Targeting TGFβR2-mutant tumors exposes vulnerabilities to stromal TGFβ blockade in pancreatic cancer

Huang, H., Zhang, Y., Gallegos, V., Sorrelle, N., Zaid, M. M., Toombs, J., Du, W., Wright, S., Hagopian, M., Wang, Z., Hosein, A. N., Sathe, A. A., Xing, C., Koay, E. J., Driscoll, K. E. & Brekken, R. A., Nov 7 2019, In : EMBO Molecular Medicine. 11, 11, e10515.

Research output: Contribution to journalArticle

Open Access
Pancreatic Neoplasms
Adenocarcinoma
Neoplasms
Immunosuppressive Agents
Stromal Cells

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 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Scoliosis
Alleles
Exome
Gene Dosage
Genetic Models