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1. Performance Comparison of IEEE 802.11p and LTE-V2X Through Field-Tests and Simulations

Author

Gorospe, J., Garcia, D., Mozo, E., Hasan, S., Gomez, A. A., Uhlemann, Elisabeth, Gorospe, J., Garcia, D., Mozo, E., Hasan, S., Gomez, A. A., and Uhlemann, Elisabeth

Abstract

Vehicular communication is a key enabler in making Automated Vehicles (AVs) collaborate by sharing information, which complements on-board sensor information and facilitates precise vehicle control. This paper presents a tailored measurement campaign aimed at analyzing the performance of two vehicular communication technologies, namely IEEE 802.11p and LTE-V2X. Our study focuses on key metrics for cooperating AVs, such as end-To-end latency and packet delivery ratios. Additionally, we investigate the feasibility of channel coexistence, assessing the challenges associated with concurrent channel access. The results derived from field tests are correlated with simulations conducted on PLEXE and OpenCV2X, i.e., platforms used for simulating IEEE 802.11p and LTE-V2X, respectively. This combined methodology, comprising field tests and simulations, enables the attainment of replicable conclusions, which in turn enables better design choices.

Published
2024
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2. Long-acting HIV Treatments: Study Design, Logistics, and Access.

Author

Murdock, Nicholas A, Alajaji, Nayri E, Schaefer, Robin, Boone, Cheriko A, Campo, Rafael E, Dore, Gregory J, Gandhi, Monica, Gorospe, J Rafael, Gulick, Roy M, Hodder, Sally L, Liu, Jonathan, Rhee, Martin S, Rooney, James F, Vannappagari, Vani, Wilkin, Timothy, and Miller, Veronica

Subjects
PEOPLE with mental illness, CLINICAL trials, TRANSGENDER people, OLDER people, RACIAL minorities
Abstract

New long-acting HIV treatment products have the potential to change the HIV epidemic in the United States and globally. Phase 3 clinical trials of HIV treatments tend to underrepresent populations bearing a disproportionate burden of the HIV epidemic—including women, racial minorities, trans and gender-diverse people, older adults, the unhoused, people who inject drugs, those in rural areas, individuals with mental illness, and other marginalized groups. These populations commonly face significant challenges in adhering to daily HIV treatment regimens. Conducting clinical trials of long-acting treatment targeting specific unmet medical needs of these populations can improve understanding of optimal care approaches, broaden the indication for use of long-acting products, and inform treatment guidelines, all of which can influence reimbursement and access policies. Innovative trial designs and programmatic implementation can improve inclusivity for long-acting therapy. This article summarizes discussions of a multistakeholder workshop on study designs for long-acting HIV treatments. [ABSTRACT FROM AUTHOR]

Published
2024
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3. PlatoonSAFE : An Integrated Simulation Tool for Evaluating Platoon Safety

Author

Hasan, Shahriar, Gorospe, J., Girs, Svetlana, Gomez, A. A., Uhlemann, Elisabeth, Hasan, Shahriar, Gorospe, J., Girs, Svetlana, Gomez, A. A., and Uhlemann, Elisabeth

Abstract

Platooning is highly tractable for enabling fuel savings for autonomous and semi-autonomous cars and trucks. Safety concerns are one of the main impediments that need to be overcome before vehicle platoons can be deployed on ordinary roads despite their readily available technical feasibility. Simulation studies remain vital for evaluating platoon safety applications primarily due to the high cost of field tests. To this end, we present PlatoonSAFE, an open-source simulation tool that promotes the simulation studies of fault tolerance in platooning by enabling the monitoring of transient communication outages during runtime and assigning an appropriate performance level as a function of the instantaneous communication quality. In addition, PlatoonSAFE facilitates the simulation of several emergency braking strategies to evaluate their efficacy in transitioning a platoon to a fail-safe state. Furthermore, two Machine Learning (ML) models are integrated into PlatoonSAFE that can be employed as an onboard prediction tool in the platooning vehicles to facilitate online training of ML models and real-time prediction of communication, network, and traffic parameters. In this paper, we present the PlatoonSAFE structure, its features and implementation details, configuration parameters, and evaluation metrics required to evaluate the fault tolerance of platoon safety applications.

Published
2023
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4. A170 ADVERSE EVENTS & SEROLOGICAL RESPONSES FOLLOWING SARS-COV-2 VACCINATION IN INDIVIDUALS WITH INFLAMMATORY BOWEL DISEASE

Author

Markovinovic, A, primary, Herauf, M, additional, Quan, J, additional, Hracs, L, additional, Windsor, J W, additional, Sharifi, N, additional, Coward, S, additional, Caplan, L, additional, Gorospe, J, additional, Ma, C, additional, Panaccione, R, additional, Ingram, R, additional, Kanji, J, additional, Tipples, G, additional, Holodinsky, J, additional, Berstein, C, additional, Mahoney, D, additional, Bernatsky, S, additional, Benchimol, E, additional, and Kaplan, G G, additional

Published
2023
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5. A195 DURABILITY OF SEROLOGICAL RESPONSES AFTER SECOND, THIRD AND FOURTH DOSE OF SARS-COV-2 VACCINATION IN INFLAMMATORY BOWEL DISEASE: A PROSPECTIVE COHORT STUDY

Author

Sharifi, N, primary, Ma, C, additional, Seow, C, additional, Quan, J, additional, Hracs, L, additional, Caplan, L, additional, Markovinović, A, additional, Herauf, M, additional, Windsor, J, additional, Coward, S, additional, Buie, M, additional, Gorospe, J, additional, Panaccione, R, additional, and Kaplan, G, additional

Published
2023
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6. Alexander Disease and Megalencephalic Leukoencephalopathy with Subcortical Cysts: Leukodystrophies Arising from Astrocyte Dysfunction

Author

Gorospe, J. Rafael and Maletkovic, Jelena

Abstract

Disorders of white matter are some of the most commonly encountered conditions in the practice of child neurology. For a child presenting with evidence of neurological impairment, a magnetic resonance imaging (MRI) of the brain is usually performed and often proves informative in suggesting the diagnosis. Traditionally, primary white matter disorders characterized by progressive destruction of myelin sheaths and to some extent oligodendrocytes, while initially preserving other components of the central nervous system (CNS), have been termed "leukodystrophies" when a genetic etiology is determined or suspected. The last decade has seen the identification of leukodystrophies with distinct clinical, MRI, and molecular findings. This review focuses on two disorders, Alexander disease (AD) and Megalencephalic leukoencephalopathy with cysts (MLC), which are newly characterized leukodystrophies that point to an important role for astrocytes in maintaining normal myelination. Alexander disease is an autosomal dominant disorder resulting from mutations in the GFAP gene that encodes for an intermediate filament protein specific to astrocytes. MLC is an autosomal recessive disorder in which 70% of cases harbor a mutation in MLC1, a gene that encodes for a protein highly expressed in distal astroglial processes. The precise pathogenesis of leukodystrophy in these two disorders remains unresolved. (Contains 2 tables and 2 figures.)

Published
2006
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16. Mutations in the sarcoglycan genes in patients with myopathy

Author

Duggan, David J., Gorospe, J. Rafael, Fanin, Marina, Hoffman, Eric P., and Angelini, Corrado

Subjects
Muscular dystrophy -- Genetic aspects, Gene mutations -- Health aspects, Muscle proteins -- Genetic aspects
Abstract

Mutations in the genes for sarcoglycans might be responsible for some forms of muscular dystrophy. Sarcoglycans are proteins that help form the structure of muscle fibers. Researchers used antibodies against the sarcoglycans to stain muscle biopsy samples from 556 people with muscular dystrophy who had a normal dystrophin gene. Ten percent had decreased levels of sarcoglycans. In 50 of these patients, gene analysis revealed that 58% had a mutation in the sarcoglycan genes. Those with severe muscular dystrophy were most likely to have mutations in these genes.

Published
1997

19. Prediction of human population responses to toxic compounds by a collaborative competition

Author

Eduati, F, Mangravite, L, Wang, T, Tang, Hongxiang, Bare, J, Huang, R, Norman, T, Kellen, M, Menden, M, Yang, J, Zhan, X, Zhong, R, Xiao, G, Xia, M, Abdo, N, Kosyk, O, Friend, S, Stolovitzky, G, Dearry, A, Tice, R, Simeonov, S, Rusyn, I, Wright, F, Xie, Y, Alaimo, S, Amadoz, A, Ammad-ud-din, M, Chloé-Azencott, A, Bacardit, J, Barron, P, Bernard, E, Beyer, A, Bin, S, van Bömmel, A, Borgwardt, K, Brys, A, Caffrey, B, Chang, J, Christodoulou, E, Clément-Ziza, M, Cohen, T, Cowherd, M, Demeyer, S, Dopazo, J, Elhard, J, Falcao, A, Ferro, A, Friedenberg, D, Giugno, R, Gong, Y, Gorospe, J, Granville, C, Grimm, D, Heinig, M, Hernansaiz, R, Hochreiter, S, Liang-Huang, C, Huska, M, Jiao, Y, Klambauer, G, Kuhn, M, Kursa, M, Kutum, R, Lazzarini, N, Lee, I, Leung, M, K W, Lim, Liu, C, F L, López, Mammana, A, Mayr, A, Michoel, T, Mongiovì, M, Moore, J, Narasimhan, R, Opiyo, S, Pandey, G, Peabody, A, Perner, J, Pulvirenti, A, Rawlik, K, Reinhardt, S, Riffle, C, Ruderfer, D, Sander, A, Savage, R, Scornet, E, Sebastian-Leon, P, Sharan, R, Simon-Gabriel, C, Stoven, V, Sun, J, Tang, H, Teixeira, A, Tenesa, A, Jean-Vert, P, Vingron, M, Walter, T, Whalen, S, Wiśniewska, Z, Wu, Y, Xu, H, Zhang, S, Zhao, J, W Zheng J, Ziwei, D, Simeonov, A, Raymond, R Tice, Saez-Rodriguez, J., NIEHS-NCATS-UNC DREAM Toxicogenetics Collaboration, Institut de Recherche pour le Développement (IRD), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health [Bethesda] (NIH), Data Storage Institute - A*STAR, Capital Normal University [Beijing], Southwest University of China, sans affiliation, Shanghai Ocean University, Centre de Bioinformatique (CBIO), MINES ParisTech - École nationale supérieure des mines de Paris-PSL Research University (PSL), Cancer et génôme: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, MINES ParisTech - École nationale supérieure des mines de Paris-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de l'Information Géographique et Forestière [IGN] (IGN), Systèmes Productifs, Logistique, Organisation des Transports et Travail (IFSTTAR/AME/SPLOTT), Communauté Université Paris-Est-Institut Français des Sciences et Technologies des Transports, de l'Aménagement et des Réseaux (IFSTTAR), Biotechnology Center [Dresden] (BIOTEC), Technische Universität Dresden (TUD), Laboratoire National de Métrologie et d'Essais [Trappes] (LNE ), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Department of Computational Genomics, Centro de Investigación Príncipe Felipe (CIPF), Functional Genomics Node (INB), CIPF, Computational Intelligence Research Group (CA3), Centre of Technology and Systems (CTS), Faculty of Sciences and Technology (FCT NOVA), Universidade Nova de Lisboa (NOVA)-Universidade Nova de Lisboa (NOVA)-Faculty of Sciences and Technology (FCT NOVA), Universidade Nova de Lisboa (NOVA)-Universidade Nova de Lisboa (NOVA)-Faculdade de Ciências e Tecnologia (FCT NOVA), Universidade Nova de Lisboa (NOVA), ACEEE, The Institute of Doctors Engineers and Scientists - IDES, Laboratoire Traitement et Communication de l'Information (LTCI), Télécom ParisTech-Institut Mines-Télécom [Paris] (IMT)-Centre National de la Recherche Scientifique (CNRS), Laboratory of Information, Network and Communication Sciences (LINCS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut Mines-Télécom [Paris] (IMT), Institute of Computational Biology, Helmholtz-Zentrum München (HZM), Stony Brook University [SUNY] (SBU), State University of New York (SUNY), University of Pensylvania, Institute for Infocomm Research - I²R [Singapore], Institut de recherche en informatique de Toulouse (IRIT), Université Toulouse 1 Capitole (UT1)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées, Department of Mechanical and Aerospace Engineering [Davis], University of California [Davis] (UC Davis), University of California-University of California, Commonwealth Scientific and Industrial Research Organisation [Canberra] (CSIRO), Ludwig-Maximilians-Universität München (LMU), Laboratoire Architecture, Ville, Urbanisme, Environnement (LAVUE), École nationale supérieure d'architecture de Paris-La Villette (ENSAPLV)-École nationale supérieure d'architecture de Paris Val-de-Seine (ENSA PVDS)-Université Paris 8 Vincennes-Saint-Denis (UP8)-Ministère de la Culture (MC)-Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Statistique Théorique et Appliquée (LSTA), Université Pierre et Marie Curie - Paris 6 (UPMC), Agricultural Technological Extensive Station of Luntai County in Xinjiang, Medstar Research Institute, Huawei Technologies [Shanghaï], School of Economics and Business Administration (School of Economics and Business Administration), Beijing Normal University, National Center for Mathematics and Interdisciplinary Sciences [Beijing] (NCMIS), Academy of Mathematics and Systems Science (AMSS), Chinese Academy of Sciences [Beijing] (CAS)-Chinese Academy of Sciences [Beijing] (CAS), Division of Biostatistics, Helmholtz-Institute for Biomedical Engineering [RWTH Aachen University], European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, Agricultural Information Institute (AII), Chinese Academy of Agricultural Sciences (CAAS), Department of Computer Science - Lafayette College, Lafayette College [Easton], MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Français des Sciences et Technologies des Transports, de l'Aménagement et des Réseaux (IFSTTAR)-Communauté Université Paris-Est, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Faculdade de Ciências e Tecnologia = School of Science & Technology (FCT NOVA), Universidade Nova de Lisboa = NOVA University Lisbon (NOVA)-Universidade Nova de Lisboa = NOVA University Lisbon (NOVA)-Faculdade de Ciências e Tecnologia = School of Science & Technology (FCT NOVA), Universidade Nova de Lisboa = NOVA University Lisbon (NOVA)-Universidade Nova de Lisboa = NOVA University Lisbon (NOVA), Université Toulouse 1 Capitole (UT1), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Paris 8 Vincennes-Saint-Denis (UP8)-École nationale supérieure d'architecture de Paris-La Villette (ENSAPLV)-Université Paris Nanterre (UPN)-École nationale supérieure d'architecture de Paris Val-de-Seine (ENSA PVDS)-Centre National de la Recherche Scientifique (CNRS)-Ministère de la Culture (MC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Beijing Normal University (BNU), Sans affiliation, Mines Paris - PSL (École nationale supérieure des mines de Paris), Helmholtz Zentrum München = German Research Center for Environmental Health, Université Fédérale Toulouse Midi-Pyrénées-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse III - Paul Sabatier (UT3), Department of Mechanical and Aerospace Engineering [Univ California Davis] (MAE - UC Davis), University of California (UC)-University of California (UC), Université Paris 8 Vincennes-Saint-Denis (UP8)-École nationale supérieure d'architecture de Paris-La Villette (ENSAPLV), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Paris Nanterre (UPN)-École nationale supérieure d'architecture de Paris Val-de-Seine (ENSA PVDS)-Centre National de la Recherche Scientifique (CNRS)-Ministère de la Culture (MC), Centre National de la Recherche Scientifique (CNRS)-Université Paris Nanterre (UPN)-Ministère de la Culture (MC)-Université Paris 8 Vincennes-Saint-Denis (UP8)-École nationale supérieure d'architecture de Paris Val-de-Seine (ENSA PVDS)-École nationale supérieure d'architecture de Paris-La Villette (ENSAPLV), Institut Mines-Télécom [Paris] (IMT)-Institut National de Recherche en Informatique et en Automatique (Inria)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Toulouse Capitole (UT Capitole), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), and MINES ParisTech - École nationale supérieure des mines de Paris-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Bioinformatics, MESH: Risk Assessment, Applied Microbiology and Biotechnology, MESH: Dose-Response Relationship, Drug, Genotype, MESH: Incidence, MESH: Models, Genetic, Cytotoxicity, ComputingMilieux_MISCELLANEOUS, media_common, education.field_of_study, High-throughput screening, MESH: Genetic Predisposition to Disease, drug, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], Trait, Molecular Medicine, Health occupations, Predictive medicine, Risk factors, Risk assessment, Biotechnology, data mining, expression, MESH: High-Throughput Screening Assays, media_common.quotation_subject, Population, Biomedical Engineering, MESH: Genetics, Population, Bioengineering, Computational biology, Biology, Competition (biology), Article, MESH: Computer Simulation, ddc:570, 1000 Genomes Project, education, MESH: Toxicity Tests, ta113, MESH: Humans, [INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], MESH: Hazardous Substances, MESH: Lymphocytes, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], RA
Abstract

The ability to computationally predict the effects of toxic compounds on humans could help address the deficiencies of current chemical safety testing. Here, we report the results from a community-based DREAM challenge to predict toxicities of environmental compounds with potential adverse health effects for human populations. We measured the cytotoxicity of 156 compounds in 884 lymphoblastoid cell lines for which genotype and transcriptional data are available as part of the Tox21 1000 Genomes Project. The challenge participants developed algorithms to predict interindividual variability of toxic response from genomic profiles and population-level cytotoxicity data from structural attributes of the compounds. 179 submitted predictions were evaluated against an experimental data set to which participants were blinded. Individual cytotoxicity predictions were better than random, with modest correlations (Pearson's r < 0.28), consistent with complex trait genomic prediction. In contrast, predictions of population-level response to different compounds were higher (r < 0.66). The results highlight the possibility of predicting health risks associated with unknown compounds, although risk estimation accuracy remains suboptimal., Nature Biotechnology, 33 (9), ISSN:1546-1696, ISSN:1087-0156

Published
2015
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24. GFAP mutations, age at onset, and clinical subtypes in Alexander disease

Author

Prust, M. Wang, J. Morizono, H. Messing, A. Brenner, M. and Gordon, E. Hartka, T. Sokohl, A. Schiffmann, R. and Gordish-Dressman, H. Albin, R. Amartino, H. Brockman, K. and Dinopoulos, A. Dotti, M. T. Fain, D. Fernandez, R. and Ferreira, J. Fleming, J. Gill, D. Griebel, M. Heilstedt, H. Kaplan, P. Lewis, D. Nakagawa, M. Pedersen, R. and Reddy, A. Sawaishi, Y. Schneider, M. Sherr, E. Takiyama, Y. Wakabayashi, K. Gorospe, J. R. Vanderver, A.

Abstract

Objective: To characterize Alexander disease (AxD) phenotypes and determine correlations with age at onset (AAO) and genetic mutation. AxD is an astrogliopathy usually characterized on MRI by leukodystrophy and caused by glial fibrillary acidic protein (GFAP) mutations. Methods: We present 30 new cases of AxD and reviewed 185 previously reported cases. We conducted Wilcoxon rank sum tests to identify variables scaling with AAO, survival analysis to identify predictors of mortality, and chi(2) tests to assess the effects of common GFAP mutations. Finally, we performed latent class analysis (LCA) to statistically define AxD subtypes. Results: LCA identified 2 classes of AxD. Type I is characterized by early onset, seizures, macrocephaly, motor delay, encephalopathy, failure to thrive, paroxysmal deterioration, and typical MRI features. Type II is characterized by later onset, autonomic dysfunction, ocular movement abnormalities, bulbar symptoms, and atypical MRI features. Survival analysis predicted a nearly 2-fold increase in mortality among patients with type I AxD relative to those with type II. R79 and R239 GFAP mutations were most common (16.6% and 20.3% of all cases, respectively). These common mutations predicted distinct clinical outcomes, with R239 predicting the most aggressive course. Conclusions: AAO and the GFAP mutation site are important clinical predictors in AxD, with clear correlations to defined patterns of phenotypic expression. We propose revised AxD subtypes, type I and type II, based on analysis of statistically defined patient groups. Neurology (R) 2011; 77: 1287-1294

Published
2011

25. Translating Evidence-Based Falls Prevention into Clinical Practice in Nursing Facilities: Results and Lessons from a Quality Improvement Collaborative

Author

Col��n-Emeric, C., McArdle, J., Gorospe, J., Schenck, A., Dobson, L., DePorter, C., and McConnell, E.

Abstract

OBJECTIVES���To describe the changes in process of care before and after an evidence-based fall reduction quality improvement collaborative in nursing facilities. DESIGN���Natural experiment with non-participating facilities serving as controls. SETTING���Community nursing homes. PARTICIPANTS���Thirty-six participating and 353 non-participating nursing facilities in North Carolina. INTERVENTION���Two in-person learning sessions, monthly teleconferences, and an e-mail discussion list over 9 months. The change package emphasized screening, labeling, and risk-factor reduction. MEASUREMENTS���Compliance was measured using facility self-report and chart abstraction (n = 832) before and after the intervention. Fall rates as measured using the Minimum Data Set (MDS) were compared with those of non-participating facilities as an exploratory outcome. RESULTS���Self-reported compliance with screening, labeling, and risk-factor reduction approached 100%. Chart abstraction revealed only modest improvements in screening (51% to 68%, P

Published
2006
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27. Definition of the unique human extraocular muscle allotype by expression profiling.

Author

Fischer, M Dominik, Budak, Murat T, Bakay, Marina, Gorospe, J Rafael, Kjellgren, Daniel, Pedrosa-Domellöf, F, Hoffman, Eric P, Khurana, Tejvir S, Fischer, M Dominik, Budak, Murat T, Bakay, Marina, Gorospe, J Rafael, Kjellgren, Daniel, Pedrosa-Domellöf, F, Hoffman, Eric P, and Khurana, Tejvir S

Abstract

The extraocular muscles (EOMs) are a unique group of specialized muscles that are anatomically and physiologically distinct from other skeletal muscles. Perhaps the most striking characteristic of the EOMs is their differential sensitivity to disease. EOMs are spared in Duchenne's muscular dystrophy (DMD) despite widespread involvement of other skeletal muscles. Conversely, they are early and prominent targets in myasthenia gravis and mitochondrial myopathies. It is unclear how EOMs achieve such specialization or a differential response to diseases; however, this has been attributed to a unique, group-specific pattern of gene expression or "allotype." To begin to address these issues as well as define the human EOM allotype, we analyzed the human EOM transcriptome using oligonucleotide-based expression profiling. Three hundred thirty-eight genes were found to be differentially expressed in EOM compared with quadriceps femoris limb muscle, using a twofold cutoff. Functional characterization revealed expression patterns corresponding to known metabolic and structural properties of EOMs such as expression of EOM-specific myosin heavy chain (MYH13) and high neural, vascular, and mitochondrial content, suggesting that the profiling was sensitive and specific. Genes related to myogenesis, stem cells, and apoptosis were detected at high levels in normal human EOMs, suggesting that efficient and continuous regeneration and/or myogenesis may be a mechanism by which the EOMs remain clinically and pathologically spared in diseases such as DMD. Taken together, this study provides insight into how human EOMs achieve their unique structural, metabolic, and pathophysiological properties.

Published
2005
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30. GFAP mutations, age at onset, and clinical subtypes in Alexander disease

Author

Prust, M., primary, Wang, J., additional, Morizono, H., additional, Messing, A., additional, Brenner, M., additional, Gordon, E., additional, Hartka, T., additional, Sokohl, A., additional, Schiffmann, R., additional, Gordish-Dressman, H., additional, Albin, R., additional, Amartino, H., additional, Brockman, K., additional, Dinopoulos, A., additional, Dotti, M. T., additional, Fain, D., additional, Fernandez, R., additional, Ferreira, J., additional, Fleming, J., additional, Gill, D., additional, Griebel, M., additional, Heilstedt, H., additional, Kaplan, P., additional, Lewis, D., additional, Nakagawa, M., additional, Pedersen, R., additional, Reddy, A., additional, Sawaishi, Y., additional, Schneider, M., additional, Sherr, E., additional, Takiyama, Y., additional, Wakabayashi, K., additional, Gorospe, J. R., additional, and Vanderver, A., additional

Published
2011
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31. Expression profiling reveals metabolic and structural components of extraocular muscles

Author

Fischer, M Dominik, Gorospe, J Rafael, Felder, Edward, Bogdanovich, Sasha, Pedrosa-Domellöf, Fatima, Ahima, Rexford S, Rubinstein, Neal A, Hoffman, Eric P, Khurana, Tejvir S, Fischer, M Dominik, Gorospe, J Rafael, Felder, Edward, Bogdanovich, Sasha, Pedrosa-Domellöf, Fatima, Ahima, Rexford S, Rubinstein, Neal A, Hoffman, Eric P, and Khurana, Tejvir S

Abstract

The extraocular muscles (EOM) are anatomically and physiologically distinct from other skeletal muscles. EOM are preferentially affected in mitochondrial myopathies, but spared in Duchenne's muscular dystrophy. The anatomical and pathophysiological properties of EOM have been attributed to their unique molecular makeup: an allotype. We used expression profiling to define molecular features of the EOM allotype. We found 346 differentially expressed genes in rat EOM compared with tibialis anterior, based on a twofold difference cutoff. Genes required for efficient, fatigue-resistant, oxidative metabolism were increased in EOM, whereas genes for glycogen metabolism were decreased. EOM also showed increased expression of genes related to structural components of EOM such as vessels, nerves, mitochondria, and neuromuscular junctions. Additionally, genes related to specialized functional roles of EOM such as the embryonic and EOM-specific myosin heavy chains and genes for muscle growth, development, and/or regeneration were increased. The EOM expression profile was validated using biochemical, structural, and molecular methods. Characterization of the EOM expression profile begins to define gene transcription patterns associated with the unique anatomical, metabolic, and pathophysiological properties of EOM.

Published
2002
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33. Prevalence and predictors of osteoporosis treatment in nursing home residents with known osteoporosis or recent fracture

Author

Colón-Emeric, C., primary, Lyles, K. W., additional, Levine, D. A., additional, House, P., additional, Schenck, A., additional, Gorospe, J., additional, Fermazin, M., additional, Oliver, K., additional, Alison, J., additional, Weisman, N., additional, Xie, A., additional, Curtis, J. R., additional, and Saag, K., additional

Published
2006
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40. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients

Author

Gorospe, J. R., primary, Naidu, S., additional, Johnson, A. B., additional, Puri, V., additional, Raymond, G. V., additional, Jenkins, S. D., additional, Pedersen, R. C., additional, Lewis, D., additional, Knowles, P., additional, Fernandez, R., additional, De Vivo, D., additional, van der Knaap, M. S., additional, Messing, A., additional, Brenner, M., additional, and Hoffman, E. P., additional

Published
2002
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44. α SARCOGLYCAN DEFICIENCY, TWO NOVEL MUTATIONS

Author

Taratuto, A. L., primary, Dubrovsky, A., additional, Mesa, L., additional, Rivero, M. C., additional, Gorospe, J. R., additional, Duggan, D., additional, Nally, E. Mc, additional, Kunkel, L., additional, and Hoffman, E. P., additional

Published
1997
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46. Genetic and Clinical Heterogeneity in eIF2B-Related Disorder.

Author

Maletkovic, Jelena, Schiffmann, Raphael, Gorospe, J. Rafael, Gordon, Erynn S., Mintz, Michelle, Hoffman, Eric P., Alper, Gulay, Lynch, David R., Singhal, Bhim S., Harding, Gary, Amartino, Hernan, Brown, Candida M., Chan, Alicia, Renaud, Deborah, Geraghty, Michael, Jensen, Lloyd, Senbil, Nesrin, Kadom, Nadja, Nazarian, Javad, and Yuanjian Feng

Subjects
BRAIN injuries, CENTRAL nervous system diseases, MEDICAL genetics, GENETICS, GENETIC disorders, GENES, NUCLEOTIDES, GENETIC mutation, HOMOLOGY (Biology)
Abstract

Eukaryotic initiation factor 2B (eIF2B)-related disorders are heritable white matter disorders with a variable clinical phenotype (including vanishing white matter disease and ovarioleukodystrophy) and an equally heterogeneous genotype. We report 9 novel mutations in the EIF2B genes in our subject population, increasing the number of known mutations to more than 120. Using homology modeling, we have analyzed the impact of novel mutations on the 5 subunits of the eIF2B protein. Although recurrent mutations have been found at CpG dinucleotides in the EIF2B genes, the high incidence of private or low frequency mutations increases the challenge of providing rapid genetic confirmation of this disorder, and limits the application of EIF2B screening in cases of undiagnosed leukodystrophy. [ABSTRACT FROM AUTHOR]

Published
2008
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47. Propensity for paternal inheritance of de novo mutations in Alexander disease.

Author

Rong Li, Johnson, Anne B., Salomons, Gajja S., van der Knaap, Marjo S., Rodriguez, Diana, Boespflug-Tanguy, Odile, Rafael Gorospe, J., Goldman, James E., Messing, Albee, and Brenner, Michael

Subjects
HEREDITY, MENTAL illness, BRAIN diseases, GENETIC mutation, HUMAN chromosome abnormalities, HUMAN chromosomes, GENETIC polymorphisms
Abstract

De novo dominant mutations in the GFAP gene have recently been associated with nearly all cases of Alexander disease, a rare but devastating neurological disorder. These heterozygous mutations must occur very early in development and be present in nearly all cells in order to be detected by the sequencing methods used. To investigate whether the mutations may have arisen in the parental germ lines, we determined the parental chromosome bearing the mutations for 28 independent Alexander disease cases. These cases included 17 different missense mutations and one insertion mutation. To enable assignment of the chromosomal origin of the mutations, six new single nucleotide polymorphisms in the GFAP gene were identified, bringing the known total to 26. In 24 of the 28 cases analyzed, the paternal chromosome carried the GFAP mutation ( P<0.001), suggesting that they predominantly arose in the parental germ line, with most occurring during spermatogenesis. No effect of paternal age was observed. There has been considerable debate about the magnitude of the male to female germ line mutation rate; our ratio of 6:1 is consistent with indirect estimates based on the rate of evolution of the sex chromosome relative to the autosomic chromosomes. [ABSTRACT FROM AUTHOR]

Published
2006
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