Search Results - "Ahrens, C"

Airway microbiota across age and disease spectrum in cystic fibrosis by Zemanick, Edith T, Wagner, Brandie D, Robertson, Charles E, Ahrens, Richard C, Chmiel, James F, Clancy, John P, Gibson, Ronald L, Harris, William T, Kurland, Geoffrey, Laguna, Theresa A, McColley, Susanna A, McCoy, Karen, Retsch-Bogart, George, Sobush, Kurtis T, Zeitlin, Pamela L, Stevens, Mark J, Accurso, Frank J, Sagel, Scott D, Harris, J Kirk

“…Our objectives were to characterise the microbiota in cystic fibrosis (CF) bronchoalveolar lavage fluid (BALF), and determine its relationship to inflammation…”
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Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders by Xu, Jing, Jakher, Youseff, Ahrens-Nicklas, Rebecca C

“…Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase complex…”
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Engineering cell aggregates through incorporated polymeric microparticles by Ahrens, Caroline C., Dong, Ziye, Li, Wei

“…[Display omitted] Ex vivo cell aggregates must overcome significant limitations in the transport of nutrients, drugs, and signaling proteins compared to…”
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Compressional Ridges on Baret Montes, Pluto as Observed by New Horizons by Ahrens, C.J., Chevrier, V.F.

“…Distinct compressional folding patterns may be an important aspect in shaping icy body surfaces in the outer Solar System and revealing their folding processes…”
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MYH7 variants cause complex congenital heart disease by Ritter, Alyssa, Leonard, Jacqueline, Gray, Christopher, Izumi, Kosuke, Levinson, Katharine, Nair, Divya R., O'Connor, Matthew, Rossano, Joseph, Shankar, Venkat, Chowns, Jessica, Marzolf, Amy, Owens, Anjali, Ahrens‐Nicklas, Rebecca C.

“…MYH7, encoding the myosin heavy chain sarcomeric β‐myosin heavy chain, is a common cause of both hypertrophic and dilated cardiomyopathy. Additionally,…”
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Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing by Brooks, Dominique L., Carrasco, Manuel J., Qu, Ping, Peranteau, William H., Ahrens-Nicklas, Rebecca C., Musunuru, Kiran, Alameh, Mohamad-Gabriel, Wang, Xiao

“…Phenylketonuria (PKU), an autosomal recessive disorder caused by pathogenic variants in the phenylalanine hydroxylase ( PAH ) gene, results in the accumulation…”
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Biochemical signatures of disease severity in multiple sulfatase deficiency by Adang, Laura A., Mowafy, Samar, Herbst, Zackary M., Zhou, Zitao, Schlotawa, Lars, Radhakrishnan, Karthikeyan, Bentley, Brenna, Pham, Vi, Yu, Emily, Pillai, Nishitha R., Orchard, Paul J., De Castro, Mauricio, Vanderver, Adeline, Pasquali, Marzia, Gelb, Michael H., Ahrens‐Nicklas, Rebecca C.

“…Sulfatases catalyze essential cellular reactions, including degradation of glycosaminoglycans (GAGs). All sulfatases are post‐translationally activated by the…”
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Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification by Schlotawa, Lars, Adang, Laura A, Radhakrishnan, Karthikeyan, Ahrens-Nicklas, Rebecca C

“…Multiple sulfatase deficiency (MSD, MIM #272200) is an ultra-rare disease comprising pathophysiology and clinical features of mucopolysaccharidosis,…”
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Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes by Nomakuchi, Tomoki T., Teferedegn, Eden Y., Li, Dong, Muirhead, Kayla J., Dubbs, Holly, Leonard, Jacqueline, Muraresku, Colleen, Sergio, Emily, Arnold, Kaley, Pizzino, Amy, Skraban, Cara M., Zackai, Elaine H., Wang, Kai, Ganetzky, Rebecca D., Vanderver, Adeline L., Ahrens‐Nicklas, Rebecca C., Bhoj, Elizabeth J. K.

“…Exome sequencing (ES) has emerged as an essential tool in the evaluation of neurodevelopmental disorders (NDD) of unknown etiology. Genome sequencing (GS)…”
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Stimulation of entorhinal cortex–dentate gyrus circuitry is antidepressive by Yun, Sanghee, Reynolds, Ryan P., Petrof, Iraklis, White, Alicia, Rivera, Phillip D., Segev, Amir, Gibson, Adam D., Suarez, Maiko, DeSalle, Matthew J., Ito, Naoki, Mukherjee, Shibani, Richardson, Devon R., Kang, Catherine E., Ahrens-Nicklas, Rebecca C., Soler, Ivan, Chetkovich, Dane M., Kourrich, Saïd, Coulter, Douglas A., Eisch, Amelia J.

“…Major depressive disorder (MDD) is considered a ‘circuitopathy’, and brain stimulation therapies hold promise for ameliorating MDD symptoms, including…”
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Variants in NAA15 cause pediatric hypertrophic cardiomyopathy by Ritter, Alyssa, Berger, Justin H., Deardorff, Matthew, Izumi, Kosuke, Lin, Kimberly Y., Medne, Livija, Ahrens‐Nicklas, Rebecca C.

“…The NatA N‐acetyltransferase complex is important for cotranslational protein modification and regulation of multiple cellular processes. The NatA complex…”
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The interaction of clonality, breeding system and genomics for a highly threatened plant species and the management implications by Tierney, D. A., Ahrens, C., Rymer, P., Auld, T. D.

“…Clonal plants provide a challenge to ecological management and restoration programs. Clonal plants frequently occur as few genets over large spatial scales and…”
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Additive Manufacturing of Bonded Nd-Fe-B-Effect of Process Parameters on Magnetic Properties by Baldissera, A. B., Pavez, P., Wendhausen, P. A. P., Ahrens, C. H., Mascheroni, J. M.

“…Isotropic-bonded magnets were fabricated by powder bed fusion additive manufacturing (AM) using a feedstock composed of polymeric binder polyamide 12 (PA-12)…”
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Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease by Adang, Laura A., Schlotawa, Lars, Groeschel, Samuel, Kehrer, Christiane, Harzer, Klaus, Staretz‐Chacham, Orna, Silva, Thiago Oliveira, Schwartz, Ida Vanessa D., Gärtner, Jutta, De Castro, Mauricio, Costin, Carrie, Montgomery, Esperanza Font, Dierks, Thomas, Radhakrishnan, Karthikeyan, Ahrens‐Nicklas, Rebecca C.

“…Multiple sulfatase deficiency (MSD) is an ultra‐rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes…”
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The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes? by Li, Dong, Ahrens‐Nicklas, Rebecca C., Baker, Janice, Bhambhani, Vikas, Calhoun, Amy, Cohen, Julie S., Deardorff, Matthew A., Fernández‐Jaén, Alberto, Kamien, Benjamin, Jain, Mahim, Mckenzie, Fiona, Mintz, Mark, Motter, Constance, Niles, Kirsten, Ritter, Alyssa, Rogers, Curtis, Roifman, Maian, Townshend, Sharron, Ward‐Melver, Catherine, Schrier Vergano, Samantha A.

“…SMARCA4 encodes a central ATPase subunit in the BRG1‐/BRM‐associated factors (BAF) or polybromo‐associated BAF (PBAF) complex in humans, which is responsible…”
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Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency by Schlotawa, Lars, Tyka, Karolina, Kettwig, Matthias, Ahrens‐Nicklas, Rebecca C, Baud, Matthias, Berulava, Tea, Brunetti‐Pierri, Nicola, Gagne, Alyssa, Herbst, Zackary M, Maguire, Jean A, Monfregola, Jlenia, Pena, Tonatiuh, Radhakrishnan, Karthikeyan, Schröder, Sophie, Waxman, Elisa A, Ballabio, Andrea, Dierks, Thomas, Fischer, André, French, Deborah L, Gelb, Michael H, Gärtner, Jutta

“…Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine‐generating…”
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Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening by Ahrens‐Nicklas, Rebecca C., Ganetzky, Rebecca D., Rush, Peggy W., Conway, Robert L., Ficicioglu, Can

“…Background Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders…”
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Germination temperature sensitivity differs between co‐occurring tree species and climate origins resulting in contrasting vulnerability to global warming by Filipe, João C., Ahrens, Collin C., Byrne, Margaret, Hardy, Giles, Rymer, Paul D.

“…Climate change is shifting temperatures from historical patterns, globally impacting forest composition and resilience. Seed germination is…”
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A Global Inventory of Ice‐Related Morphological Features on Dwarf Planet Ceres: Implications for the Evolution and Current State of the Cryosphere by Sizemore, H. G., Schmidt, B. E., Buczkowski, D. A., Sori, M. M., Castillo‐Rogez, J. C., Berman, D. C., Ahrens, C., Chilton, H. T., Hughson, K. H. G., Duarte, K., Otto, K. A., Bland, M. T., Neesemann, A., Scully, J. E. C., Crown, D. A., Mest, S. C., Williams, D. A., Platz, T., Schenk, P., Landis, M. E., Marchi, S., Schorghofer, N., Quick, L. C., Prettyman, T. H., De Sanctis, M. C., Nass, A., Thangjam, G., Nathues, A., Russell, C. T., Raymond, C. A.

“…We present a comprehensive global catalog of the geomorphological features with clear or potential relevance to subsurface ice identified during the Dawn…”
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Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency by Ohl, Laura, Kuhs, Amanda, Pluck, Ryan, Durham, Emily, Noji, Michael, Philip, Nathan D., Arany, Zoltan, Ahrens-Nicklas, Rebecca C.

“…Branched chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a recently described inherited neurometabolic disorder of branched chain amino acid (BCAA)…”
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