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53. Cover

Author

Morales‐Rosado, Joel A., primary, Macke, Erica L., additional, Cousin, Margot A., additional, Oliver, Gavin R., additional, Dhamija, Radhika, additional, and Klee, Eric W., additional

Published
2020
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55. Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics

Author

Morales-Rosado, Joel A., primary, Goel, Kashish, additional, Zhang, Lingxin, additional, Åkerblom, Axel, additional, Baheti, Saurabh, additional, Black, John L., additional, Eriksson, Niclas, additional, Wallentin, Lars, additional, James, Stefan, additional, Storey, Robert F., additional, Goodman, Shaun G., additional, Jenkins, Gregory D., additional, Eckloff, Bruce W., additional, Bielinski, Suzette J., additional, Sicotte, Hugues, additional, Johnson, Stephen, additional, Roger, Veronique L., additional, Wang, Liewei, additional, Weinshilboum, Richard, additional, Klee, Eric W., additional, Rihal, Charanjit S., additional, and Pereira, Naveen L., additional

Published
2020
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56. Selective Alanine Transporter Utilization Creates a Targetable Metabolic Niche in Pancreatic Cancer

Author

Parker, Seth J., primary, Amendola, Caroline R., additional, Hollinshead, Kate E.R., additional, Yu, Qijia, additional, Yamamoto, Keisuke, additional, Encarnación-Rosado, Joel, additional, Rose, Rebecca E., additional, LaRue, Madeleine M., additional, Sohn, Albert S.W., additional, Biancur, Doug E., additional, Paulo, Joao A., additional, Gygi, Steven P., additional, Jones, Drew R., additional, Wang, Huamin, additional, Philips, Mark R., additional, Bar-Sagi, Dafna, additional, Mancias, Joseph D., additional, and Kimmelman, Alec C., additional

Published
2020
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58. Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1

Author

Wilton, Katelynn M., primary, Morales‐Rosado, Joel A., additional, Selcen, Duygu, additional, Muthusamy, Karthik, additional, Ewing, Sarah, additional, Agre, Katherine, additional, Nickels, Katherine, additional, Klee, Eric W., additional, Ho, Mai‐Lan, additional, and Morava, Eva, additional

Published
2020
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59. The influence of Economic Growth and Electric Consumption on Pollution in South America Countries

Author

Rosado, Joel Alejandro and Sánchez, María Isabel Alvarado

Subjects
lcsh:GE1-350, south american countries, South American countries,Pollution,Carbon Dioxide Emissions,Electric Consumption,Economic Growth, pollution, carbon dioxide emissions, electric consumption, lcsh:HD9502-9502.5, economic growth, lcsh:Environmental sciences, lcsh:Energy industries. Energy policy. Fuel trade
Abstract

This study investigates the influence of Electric Consumption and Economic Growth on CO2 emissions in 10 selected South American countries using the period of 1980-2012. Panel data techniques were used in examining the relationships. The Pedroni cointegration results indicated that CO2 emissions, per capita GDP, and electricity power consumption were cointegrated. The fully modified ordinary least squares (FMOLS) and dynamic ordinary least-squares (DOLS) results revealed that GDP growth and Electric Consumption increase CO2 emissions in the long run. The VECM Granger causality test show the causal flows from energy consumption, electricity consumption and economic growth to CO2 emissions in South America both short and long-run. Policy recommendations were provided for the South American countries.

Published
2017

60. Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review.

Author

Morales‐Rosado, Joel A., Singh, Herchran, Olson, Rory J., Larsen, Brandon T., Hager, Megan M., Klee, Eric W., and Dhamija, Radhika

Abstract

Noonan syndrome (NS) is an autosomal dominant condition with variable expressivity most commonly due to a germline pathogenic variant in PTPN11, which encodes the protein tyrosine phosphatase SHP‐2. Gain‐of‐function variants in PTPN11 are known to promote oncogenic behavior in affected tissues. We report the clinical description of a young adult male presenting with relapsing ganglioneuromas, dysmorphic features, cardiac abnormalities, and multiple lentigines, strongly suspicious for NS. Solid tumor testing identified the recurrent pathogenic c.922G>A (p.Asn308Asp) in PTPN11. Proband and parental blood sampling testing confirmed c.922G>A as a de novo germline alteration. Comprehensive literature review of solid tumors specifically associated to PTPN11, indicates that this is the first documentation of ganglioneuroma and its clinical recurrence after resection in conjunction with a genetically confirmed NS diagnosis. The findings in our patient further extend the list of neuroblastic and neural crest‐derived neoplasms associated with this condition. [ABSTRACT FROM AUTHOR]

Published
2021
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62. Aircraft maneuver envelope warning system

Author

Bivens, Courtland C, Rosado, Joel M, and Lee, Burnett

Subjects
Aircraft Instrumentation
Abstract

A maneuver envelope warning system for an aircraft having operating limits, operating condition sensors and an indicator driver. The indicator driver has a plurality of visual indicators. The indicator driver determines a relationship between sensed operating conditions and the operating limits; such as, a ratio therebetween. The indicator driver illuminates a number of the indicators in proportion to the determined relationship. The position of the indicators illuminated represents to a pilot in an easily ascertainable manner whether the operational conditions are approaching operational limits of the aircraft, and the degree to which operational conditions lie within or exceed operational limits.

Published
1994

66. Mayo Clinic Tapestry Study

Author

Bandel, Lorelei A., Vierkant, Robert A., Kruisselbrink, Teresa M., Bublitz, Michelle L., Wilson, Tammy A., Armasu, Sebastian M., Egan, Jan B., Presutti, Richard J., Samadder, Niloy Jewel J., Sekulic, Aleksandar, Olson, Rory J., Tan-Arroyo, Jennifer, Morales-Rosado, Joel A., Klee, Eric W., Ferber, Matthew J., Kemppainen, Jennifer L., Anderson, Jennifer L., Bidwell, Jessa S., Wick, Joseph J., Ortega, Victor E., Bobo, William V., Pichurin, Pavel N., Mcmillan, Jessica M., Weaver, DeAnna M., Riegert-Johnson, Douglas L., Cera, Alanna M., Boucher, Lauren M., Kullo, Iftikhar J., Mantia, Sarah K., Jones, Matthew T., Larson, Nicholas B., Luehrs, Tony C., Leitzke, Jon W., Sicotte, Hugues, Tian, Shulan, Stavlund, Jennifer R., Pacyna, Joel E., Sharp, Richard R., Asabere, Akwasi A., Lu, James, McAllister, Tammy M., Walker, T’Nita S., Stewart, A. Keith, Farrugia, Gianrico, and Lazaridis, Konstantinos N.

Abstract

To execute a large-scale, decentralized, clinical-grade whole exome sequencing study, coined Tapestry, for clinical practice, research discovery, and genomic education.

Published
2024
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76. Toll-like Receptor Agonists Promote Prolonged Triglyceride Storage in Macrophages.

Author

Ying-ling Huang, Morales-Rosado, Joel, Ray, Jessica, Myers, Timothy G., Kho, Terry, Mingfang Lu, and Munford, Robert S.

Subjects
*TRIGLYCERIDES, *MACROPHAGES, *TOLL-like receptors, *FATTY acids, *ACYL-CoA synthetase, *ACYLTRANSFERASES, *LIPOLYSIS
Abstract

Macrophages in infected tissues may sense microbial molecules that significantly alter their metabolism. In a seeming paradox, these critical host defense cells often respond by increasing glucose catabolism while simultaneously storing fatty acids (FA) as triglycerides (TAG) in lipid droplets. We used a load-chase strategy to study the mechanisms that promote long term retention of TAG in murine and human macrophages. Toll-like receptor (TLR)1/2, TLR3, and TLR4 agonists all induced the cells to retain TAG for ≥3 days. Prolonged TAG retention was > accompanied by the following: (a) enhanced FA uptake and FA incorporation into TAG, with long lasting increases in acyl-CoA synthetase long 1 (ACSL1) and diacylglycerol acyltransferase-2 (DGAT2), and (b) decreases in lipolysis and FA β-oxidation that paralleled a prolonged drop in adipose triglyceride lipase (ATGL). TLR agonist-induced TAG storage is a multifaceted process that persists long after most early pro-inflammatory responses have subsided andmay contribute to the formation of "lipid-laden" macrophages in infected tissues. [ABSTRACT FROM AUTHOR]

Published
2014
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77. Abstract 14397: Novel CYP2C19Genetic Variants Associated With Stent Thrombosis - A Next Generation Sequencing Study

Author

Zhang, Lingxin, Morales-Rosado, Joel A, Goel, Kashish, Akerblom, Axel, Baheti, Saurabh, Black, John, Eriksson, Niclas, Wallentin, Lars C, James, Stefan K, Storey, Robert F, Goodman, Shaun G, Jenkins, Gregory, Eckloff, Bruce, Bielinski, Suzette J, Sicotte, Hugues, Johnson, Stephen, Roger, Veronique L, Wang, Liewei, Weinshilboum, Richard, Klee, Eric, Rihal, Charanjit, and Pereira, Naveen L

Abstract

Background:The objective of this study was to describe CYP2C19 sequencing results in the largest series of clopidogrel treated cases of stent thrombosis (ST), the closest clinical phenotype to genetic clopidogrel resistance. Comprehensive annotation and in-vitro functional studies were performed to assess the impact of CYP2C19 genetic variation that may account for the missing heritability associated with this condition.Methods and Results:The study included 70 ST cases on clopidogrel from the PLATO trial (n=58) and our institutional (n=12) biorepository. Cases were matched 1:1 with controls for age, race, sex, diabetes, stent type, and presentation. Next generation sequencing (NGS) was performed to cover the entire CYP2C19 gene. We observed an association of metabolizer status with ST (p=0.02). Poor CYP2C19 metabolizers were present only in our case samples with definite ST. Paradoxically, we observed a significant higher frequency of rapid metabolizers with ST cases (p = 0.02, OR: 2.45 CI:1.24-6.98). Rare CYP2C19*8, CYP2C19*15, CYP2C19*11 alleles were also detected in ST cases. Functional validation of the exonic variation (n=11) in our cohort demonstrated that 3 cases and only 1 control carried deleterious, rare exonic variants as determined by in-vitro protein expression levels. Greater intronic variation was observed in ST cases as compared to controls with 164 intronic single nucleotide variants (SNV) unique to cases as opposed to 81 unique to controls. Splicing predictor tools revealed 12 SNV and 1 indel in deep intronic regions may lead to aberrant splicing and disruption of CYP2C19 in ST cases.Conclusions:We demonstrate for the first time in a ST cohort, NGS genotyping strategies identified both common star alleles and rare exonic variants that affect CYP2C19 protein expression. We describe deep intronic variation unique to cases that could potentially disrupt CYP2C19 function. Furthermore, the findings demonstrate the complexity of CYP2C19 genetic variation that could potentially result in ST in clopidogrel treated patients and supports the practice of CYP2C19 sequencing to further individualize anti-platelet drug therapy that may improve outcomes.

Published
2019
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78. Targeting pancreatic cancer metabolic dependencies through glutamine antagonism.

Author

Encarnación-Rosado J, Sohn ASW, Biancur DE, Lin EY, Osorio-Vasquez V, Rodrick T, González-Baerga D, Zhao E, Yokoyama Y, Simeone DM, Jones DR, Parker SJ, Wild R, and Kimmelman AC

Subjects
Humans, Glutamine metabolism, Cell Line, Tumor, Enzyme Inhibitors pharmacology, Pancreatic Neoplasms drug therapy, Pancreatic Neoplasms metabolism, Antineoplastic Agents pharmacology, Carcinoma, Pancreatic Ductal drug therapy, Carcinoma, Pancreatic Ductal metabolism
Abstract

Pancreatic ductal adenocarcinoma (PDAC) cells use glutamine (Gln) to support proliferation and redox balance. Early attempts to inhibit Gln metabolism using glutaminase inhibitors resulted in rapid metabolic reprogramming and therapeutic resistance. Here, we demonstrated that treating PDAC cells with a Gln antagonist, 6-diazo-5-oxo-L-norleucine (DON), led to a metabolic crisis in vitro. In addition, we observed a profound decrease in tumor growth in several in vivo models using sirpiglenastat (DRP-104), a pro-drug version of DON that was designed to circumvent DON-associated toxicity. We found that extracellular signal-regulated kinase (ERK) signaling is increased as a compensatory mechanism. Combinatorial treatment with DRP-104 and trametinib led to a significant increase in survival in a syngeneic model of PDAC. These proof-of-concept studies suggested that broadly targeting Gln metabolism could provide a therapeutic avenue for PDAC. The combination with an ERK signaling pathway inhibitor could further improve the therapeutic outcome., (© 2023. The Author(s).)

Published
2024
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79. A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.

Author

Macke EL, Morales-Rosado JA, Gupta A, Schmitz CT, Kruisselbrink T, Lanpher B, and Klee EW

Subjects
Adult, DNA Damage, DNA Repair genetics, DNA-Binding Proteins metabolism, Exons, Female, Humans, Melanoma genetics, Mutation, Missense, Neoplasm Recurrence, Local genetics, Skin metabolism, Skin pathology, Skin Neoplasms genetics, Ultraviolet Rays adverse effects, Exome Sequencing, Xeroderma Pigmentosum diagnosis, Xeroderma Pigmentosum metabolism, Melanoma, Cutaneous Malignant, DNA-Binding Proteins genetics, Xeroderma Pigmentosum genetics
Abstract

Pathogenic variants in the XPC complex subunit, DNA damage recognition, and repair factor ( XPC ) are the cause of xeroderma pigmentosum, group C (MIM: 278720). Xeroderma pigmentosum is an inherited condition characterized by hypersensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer due to a defect in nucleotide excision repair (NER). Here we describe an individual with a novel missense variant and deletion of exons 14-15 in XPC presenting with a history of recurrent melanomas. The proband is a 39-yr-old female evaluated through the Mayo Clinic Department of Clinical Genomics. Prior to age 36, she had more than 60 skin biopsies that showed dysplastic nevi, many of which had atypia. At age 36 she presented with her first melanoma in situ, and since then has had more than 10 melanomas. The proband underwent research whole-exome sequencing (WES) through the Mayo Clinic's Center for Individualized Medicine and a novel heterozygous variant of uncertain significance (VUS) in XPC (c.1709T > G, p.Val570Gly) was identified. Clinical confirmation pursued via XPC gene sequencing and deletion/duplication analysis of XPC revealed a pathogenic heterozygous deletion of ∼1 kb within XPC , including exons 14 and 15. Research studies determined the alterations to be in trans Although variants in XPC generally result in early-onset skin cancer in childhood, the proband is atypical in that she did not present with her first melanoma until age 36. Review of the patient's clinical, pathological, and genetic findings points to a diagnosis of delayed presentation of xeroderma pigmentosum., (© 2020 Macke et al.; Published by Cold Spring Harbor Laboratory Press.)

Published
2020
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