Search Results - "Dang, An N."

CLN3 is required for the clearance of glycerophosphodiesters from lysosomes by Laqtom, Nouf N., Dong, Wentao, Medoh, Uche N., Cangelosi, Andrew L., Dharamdasani, Vimisha, Chan, Sze Ham, Kunchok, Tenzin, Lewis, Caroline A., Heinze, Ivonne, Tang, Rachel, Grimm, Christian, Dang Do, An N., Porter, Forbes D., Ori, Alessandro, Sabatini, David M., Abu-Remaileh, Monther

“…Lysosomes have many roles, including degrading macromolecules and signalling to the nucleus 1 . Lysosomal dysfunction occurs in various human conditions, such…”
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Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen by Barber, Lauren A., Abbott, Craig, Nakhate, Vihang, Do, An N. Dang, Blissett, Angela R., Marini, Joan C.

“…Purpose Growth deficiency is a cardinal feature of osteogenesis imperfecta (OI) types III and IV, caused by pathogenic variants in type I collagen. OI-specific…”
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Use of the Vineland‐3, a measure of adaptive functioning, in CLN3 by Dang Do, An N., Thurm, Audrey E., Farmer, Cristan A., Soldatos, Ariane G., Chlebowski, Colby E., O'Reilly, Julie K., Porter, Forbes D.

“…Progressive vision loss and neurocognitive impairment are early and frequent presentations in CLN3 disease. This highlights neurodevelopmental functioning as…”
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Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions by Dwojak, Ewelina, O’Mard, Danielle, Zou, Jizhong, Wassif, Christopher A., Burkett, Sandra, Eckhaus, Michael, Rueda Faucz, Fabio, Padilla, Cameron, Villasmil, Rafael, Zheng, Wei, Dang Do, An N.

“…Primary fibroblasts from six individuals with CLN3-related conditions were used to generate induced pluripotent stem cell (iPSC) lines CHDTRi001-B,…”
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Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation by Dang Do, An N., Chang, Irene J., Jiang, Xutian, Wolfe, Lynne A., Ng, Bobby G., Lam, Christina, Schnur, Rhonda E., Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D., Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y., Wolfenson, Zoe, Perreault, John, Ory, Daniel S., Freeze, Hudson H., Merritt, J. Lawrence, Porter, Forbes D.

“…Congenital disorders of glycosylation (CDG) and Niemann‐Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile‐onset…”
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Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome by Dang Do, An N., Baker, Eva H., Warren, Katherine E., Bianconi, Simona E., Porter, Forbes D.

“…Smith–Lemli–Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ…”
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Remote Sensing Approach for Monitoring Coastal Wetland in the Mekong Delta, Vietnam: Change Trends and Their Driving Forces by Dang, An T. N., Kumar, Lalit, Reid, Michael, Nguyen, Ho

“…Coastal wetlands in the Mekong Delta (MD), Vietnam, provide various vital ecosystem services for the region. These wetlands have experienced critical changes…”
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Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure by Ballenger, Kaitlin L, Tugarinov, Nicol, Talvacchio, Sara K, Knue, Marianne M, Dang Do, An N, Ahlman, Mark A, Reynolds, James C, Yanovski, Jack A, Marini, Joan C

“…Mutations in type I collagen or collagen-related proteins cause osteogenesis imperfecta (OI). Energy expenditure and body composition in OI could reflect…”
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Cerebrospinal Fluid Protein Biomarker Discovery in CLN3 by Dang Do, An N., Sleat, David E., Campbell, Kiersten, Johnson, Nicholas L., Zheng, Haiyan, Wassif, Christopher A., Dale, Ryan K., Porter, Forbes D.

“…Syndromic CLN3-Batten is a fatal, pediatric, neurodegenerative disease caused by variants in CLN3, which encodes the endolysosomal transmembrane CLN3 protein…”
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Brain proton MR spectroscopy measurements in CLN3 disease by Dang Do, An N., Baker, Eva H., Farmer, Cristan A., Soldatos, Ariane G., Thurm, Audrey E., Porter, Forbes D.

“…CLN3 is an autosomal recessive lysosomal disorder with intracellular accumulation of ceroid-lipofuscins. CLN3 classically has onset around 4–6 years of age…”
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Research and publication trends in hospital medicine by Do, An N. Dang, Munchhof, Amy M., Terry, Colin, Emmett, Thomas, Kara, Areeba

“…BACKGROUND Research by hospitalists may aid the evolution of hospital medicine into an academic specialty. OBJECTIVE To describe the factors associated with…”
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Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures by Abdennadher, Myriam, Inati, Sara, Soldatos, Ariane, Norato, Gina, Baker, Eva H., Thurm, Audrey, Bartolini, Luca, Masvekar, Ruturaj, Theodore, William, Bielekova, Bibiana, Porter, Forbes D., Dang Do, An N.

“…CLN3 disease is a pediatric neurodegenerative condition wherein seizures are common. The most common disease‐causing variant is an ~1‐kb deletion in CLN3. We…”
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Characterizing upper limb function in the context of activities of daily living in CLN3 disease by Hildenbrand, Hanna, Wickstrom, Jordan, Parks, Rebecca, Zampieri, Cris, Nguyen, Thuy‐Tien, Thurm, Audrey, Jenkins, Kisha, Alter, Katharine E., Matsubara, Jesse, Hammond, Dylan, Soldatos, Ariane, Porter, Forbes D., Dang Do, An N.

“…In CLN3 disease, impairments in motor function are frequently reported to have later onset compared to visual and cognitive decline, but upper limb motor…”
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Neurofilament light chain levels correlate with clinical measures in CLN3 disease by Dang Do, An N., Sinaii, Ninet, Masvekar, Ruturaj R., Baker, Eva H., Thurm, Audrey E., Soldatos, Ariane G., Bianconi, Simona E., Bielekova, Bibiana, Porter, Forbes D.

“…CLN3 disease is a neurodegenerative disorder with onset in childhood. It affects multiple functions at different developmental stages. Incomplete understanding…”
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Portable (handheld) clinical device for quantitative spectroscopy of skin, utilizing spatial frequency domain reflectance techniques by Saager, Rolf B, Dang, An N, Huang, Samantha S, Kelly, Kristen M, Durkin, Anthony J

“…Spatial Frequency Domain Spectroscopy (SFDS) is a technique for quantifying in-vivo tissue optical properties. SFDS employs structured light patterns that are…”
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P-selectin antibody treatment after blunt thoracic trauma prevents early pulmonary arterial thrombosis without changes in viscoelastic measurements of coagulation by Schutzman, Linda M., Rigor, Rob R., Lin, Yung-Ling J., Dang, An N., Le, Peter H., Singh, Harjeet B., Yu, Bohan, Wisner, Peter H., Musson, Cristien C., Clark, Isaiah J., Galante, Joseph M., Brown, Ian E.

“…Previously, in a murine model of blunt thoracic trauma, we provided evidence of primary pulmonary thrombosis associated with increased expression of the cell…”
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Coastal Melaleuca wetlands under future climate and sea-level rise scenarios in the Mekong Delta, Vietnam: vulnerability and conservation by Dang, An T. N., Reid, Michael, Kumar, Lalit

“…Melaleuca wetland ecosystems play crucial roles in ecology and human livelihood, yet the ecosystems are vulnerable to climate change and relative sea-level…”
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eIF2α kinases GCN2 and PERK modulate transcription and translation of distinct sets of mRNAs in mouse liver by Dang Do, An N., Kimball, Scot R., Cavener, Douglas R., Jefferson, Leonard S.

“…In eukaryotes, selective derepression of mRNA translation through altered utilization of upstream open reading frames (uORF) or internal ribosomal entry sites…”
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Assessing potential impacts of sea level rise on mangrove ecosystems in the Mekong Delta, Vietnam by Dang, An T. N., Reid, Michael, Kumar, Lalit

“…Sea level rise (SLR) due to global climate change negatively impacts coastal zones, in particular wetland and mangrove ecosystems. Mangroves in the Mekong…”
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Glycerophosphoinositol is Elevated in Blood Samples From CLN3Δex7-8 pigs, Cln3Δex7-8 Mice, and CLN3-Affected Individuals by Brudvig, Jon J, Swier, Vicki J, Johnson, Tyler B, Cain, Jacob C, Pratt, Melissa, Rechtzigel, Mitch, Leppert, Hannah, Dang Do, An N, Porter, Forbes D, Weimer, Jill M

“…Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite…”
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