Search Results - "Gomez, Arianna"

The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies by Van De Weghe, Julie C, Gomez, Arianna, Doherty, Dan

“…The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in…”
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Global Health Security Preparedness and Response: An Analysis of the Relationship between Joint External Evaluation Scores and COVID-19 Response Performance by Nguyen, Laura, Brown, Sydney Morgan, Couture, Alexia, Krishnan, Sharanya, Shamout, Mays, Hernandez, Luis, Beaver, Jennifer, Gomez Lopez, Arianna, Whitson, Cassidy, Dick, Leah, Greiner, Ashley Lauren

“…ObjectivesThe COVID-19 pandemic has highlighted the importance and complexity of a country’s ability to effectively respond. The Joint External Evaluation…”
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A novel chemical-combination screen in zebrafish identifies epigenetic small molecule candidates for the treatment of Duchenne muscular dystrophy by Farr, 3rd, Gist H, Morris, Melanie, Gomez, Arianna, Pham, Thao, Kilroy, Elisabeth, Parker, Elizabeth U, Said, Shery, Henry, Clarissa, Maves, Lisa

“…Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder and is one of the most common muscular dystrophies. There are currently few effective…”
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Efficacy of the Self-Adjusting File System on Cleaning and Shaping Oval Canals: A Microbiological and Microscopic Evaluation by Paranjpe, Avina, BDS, MS, MSD, PhD, de Gregorio, Cesar, DDS, MS, Gonzalez, Ana Maria, PhD, Gomez, Arianna, DDS, MS, Silva Herzog, Daniel, PhD, Piña, Antonio Aragón, MS, PhD (Eng), Cohenca, Nestor, DDS

“…Abstract Introduction The shaping ability of root canal instruments is determined by a complex interrelationship of parameters such as cross-sectional design…”
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Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome by Llewellyn, Katrina J, Nalbandian, Angèle, Gomez, Arianna, Wei, Don, Walker, Naomi, Kimonis, Virginia E

“…Abstract Genetic defects in the UBE3A gene, which encodes for the imprinted E6-AP ubiquitin E3 ligase (UBE3A), is responsible for the occurrence of Angelman…”
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Corrigendum to “Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman Syndrome” [Neurobiol. Dis. 76C (2015) 77–86] by Llewellyn, Katrina J, Nalbandian, Angèle, Gomez, Arianna, Wei, Don, Walker, Naomi, Bui, Anh, Kim, Hannah, Soltesz, Ivan, Kimonis, Virginia E

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Systematic analysis of cilia characteristics and Hedgehog signaling in five immortal cell lines by Gómez, Arianna Ericka, Christman, Angela K, Van De Weghe, Julie Craft, Finn, Malaney, Doherty, Dan

“…Dysfunction of the primary cilium, a microtubule-based signaling organelle, leads to genetic conditions called ciliopathies. Hedgehog (Hh) signaling is…”
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wnt16 regulates spine and muscle morphogenesis through parallel signals from notochord and dermomyotome by Watson, Claire J, Tang, W Joyce, Rojas, Maria F, Fiedler, Imke A K, Morfin Montes de Oca, Ernesto, Cronrath, Andrea R, Callies, Lulu K, Swearer, Avery Angell, Ahmed, Ali R, Sethuraman, Visali, Addish, Sumaya, Farr, 3rd, Gist H, Gómez, Arianna Ericka, Rai, Jyoti, Monstad-Rios, Adrian T, Gardiner, Edith M, Karasik, David, Maves, Lisa, Busse, Bjorn, Hsu, Yi-Hsiang, Kwon, Ronald Young

“…Bone and muscle are coupled through developmental, mechanical, paracrine, and autocrine signals. Genetic variants at the CPED1-WNT16 locus are dually…”
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Multiple Mechanisms Explain Genetic Effects at the CPED1-WNT16 Bone Mineral Density Locus by Gómez, Arianna Ericka, Addish, Sumaya, Alvarado, Kurtis, Boatemaa, Priscilla, Onyali, Anne C., Ramirez, Emily G., Rojas, Maria F., Rai, Jyoti, Reynolds, Kiana A., Tang, W. Joyce, Kwon, Ronald Young

“…Purpose of Review Chromosome region 7q31.31, also known as the CPED1-WNT16 locus, is robustly associated with BMD and fracture risk. The aim of the review is…”
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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome by Latour, Brooke L, Van De Weghe, Julie C, Rusterholz, Tamara Ds, Letteboer, Stef Jf, Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E, van Reeuwijk, Jeroen, van Beersum, Sylvia Ec, Miller, Caitlin V, Dempsey, Jennifer C, Morsy, Heba, Bamshad, Michael J, Nickerson, Deborah A, Neuhauss, Stephan Cf, Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A, Alkuraya, Fowzan S, Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan

“…Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode…”
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LATE BREAKING NEWS E-POSTER PRESENTATION: LBP 4 Novel Epigenetic Small Molecule Approaches and Single-Cell Epigenetic Analysis for DMD by Maves, Dr. Lisa, Dupont, Jean-Baptiste, Farr, Gist H., Luttrell, Shawn, Morris, Melanie, Gomez, Arianna, Pham, Thao, Mack, David

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LATE BREAKING NEWS E-POSTER PRESENTATION by Maves, Dr. Lisa, Dupont, Jean-Baptiste, Farr, Gist H., Luttrell, Shawn, Morris, Melanie, Gomez, Arianna, Pham, Thao, Mack, David

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In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics by Nalbandian, Angèle, Llewellyn, Katrina J, Gomez, Arianna, Walker, Naomi, Su, Hailing, Dunnigan, Andrew, Chwa, Marilyn, Vesa, Jouni, Kenney, M C, Kimonis, Virginia E

“…Mitochondrial dysfunction has recently been implicated as an underlying factor to several common neurodegenerative diseases, including Parkinson's disease,…”
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Hedgehog Signaling in Joubert Syndrome by Gómez, Arianna Ericka

“…Joubert syndrome (JS) is a mostly recessive, neurodevelopmental condition diagnosed by the molar tooth sign (MTS) on axial brain imaging. Currently, > 40 genes…”
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Systematic analysis of cilia characteristics and Hedgehog signaling in five immortal cell lines by Arianna Ericka Gómez, Angela K. Christman, Julie Craft Van De Weghe, Malaney Finn, Dan Doherty

“…Dysfunction of the primary cilium, a microtubule-based signaling organelle, leads to genetic conditions called ciliopathies. Hedgehog (Hh) signaling is…”
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