Search Results - "McGaughey, David M"

A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin by Molloy, Anne M., Pangilinan, Faith, Mills, James L., Shane, Barry, O’Neill, Mary B., McGaughey, David M., Velkova, Aneliya, Abaan, Hatice Ozel, Ueland, Per M., McNulty, Helene, Ward, Mary, Strain, J.J., Cunningham, Conal, Casey, Miriam, Cropp, Cheryl D., Kim, Yoonhee, Bailey-Wilson, Joan E., Wilson, Alexander F., Brody, Lawrence C.

“…Methylmalonic acid (MMA) is a by-product of propionic acid metabolism through the vitamin B12 (cobalamin)-dependent enzyme methylmalonyl CoA mutase. Elevated…”
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Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways by Mungale, Ameera, McGaughey, David M, Zhang, Congxiao, Yousaf, Sairah, Liu, James, Brooks, Brian P, Maminishkis, Arvydas, Fufa, Temesgen D, Hufnagel, Robert B

“…The macula and fovea comprise a highly sensitive visual detection tissue that is susceptible to common disease processes like age-related macular degeneration…”
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Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer by Stine, Zachary E., McGaughey, David M., Bessling, Seneca L., Li, Shengchao, McCallion, Andrew S.

“…RET, a gene causatively mutated in Hirschsprung disease and cancer, has recently been implicated in breast cancer estrogen (E2) independence and tamoxifen…”
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Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b by McGaughey, David M, Vinton, Ryan M, Huynh, Jimmy, Al-Saif, Amr, Beer, Michael A, McCallion, Andrew S

“…Despite its recognized utility, the extent to which evolutionary sequence conservation-based approaches may systematically overlook functional noncoding…”
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Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling by Liu, Yaping, Pham, Xuan, Zhang, Lilei, Chen, Pei-Lung, Burzynski, Grzegorz, McGaughey, David M, He, Shan, McGrath, John A, Wolyniec, Paula, Fallin, Margaret D, Pierce, Megan S, McCallion, Andrew S, Pulver, Ann E, Avramopoulos, Dimitrios, Valle, David

“…Numerous linkage and association studies by our group and others have implicated DPYSL2 at 8p21.2 in schizophrenia. Here we explore DPYSL2 for functional…”
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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease by de Pontual, Loïc, Zaghloul, Norann A, Thomas, Sophie, Davis, Erica E, Mcgaughey, David M, Dollfus, Hélène, Baumann, Clarisse, Bessling, Seneca L, Babarit, Candice, Pelet, Anna, Gascue, Cecilia, Beales, Philip, Munnich, Arnold, Lyonnet, Stanislas, Etchevers, Heather, Attie-Bitach, Tania, Badano, Jose L, McCallion, Andrew S, Katsanis, Nicholas, Amiel, Jeanne

“…Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal…”
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Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend by McGaughey, David M, Stine, Zachary E, Huynh, Jimmy L, Vinton, Ryan M, McCallion, Andrew S

“…Transcriptional regulatory elements are central to development and interspecific phenotypic variation. Current regulatory element prediction tools rely heavily…”
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Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks by Bryan, John M, Fufa, Temesgen D, Bharti, Kapil, Brooks, Brian P, Hufnagel, Robert B, McGaughey, David M

“…Abstract The human eye is built from several specialized tissues which direct, capture and pre-process information to provide vision. The gene expression of…”
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Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish by Benoit, Courtney R, Walsh, Darren J, Mekerishvili, Levan, Houerbi, Nadia, Stanton, Abigail E, McGaughey, David M, Brody, Lawrence C

“…In humans, vitamin B-12 (cobalamin) transport involves 3 paralogous proteins: transcobalamin, haptocorrin, and intrinsic factor. Zebrafish (Danio rerio)…”
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Building the mega single-cell transcriptome ocular meta-atlas by Swamy, Vinay S, Fufa, Temesgen D, Hufnagel, Robert B, McGaughey, David M

“…Abstract Background: The development of highly scalable single-cell transcriptome technology has resulted in the creation of thousands of datasets, >30 in the…”
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PLAE Web App Enables Powerful Searching and Multiple Visualizations Across One Million Unified Single-Cell Ocular Transcriptomes by Swamy, Vinay S., Batz, Zachary A., McGaughey, David M.

“…PurposeTo create a high-performance reactive web application to query single-cell gene expression data across cell type, species, study, and other factors…”
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Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure by Boobalan, Elangovan, Thompson, Amy H, Alur, Ramakrishna P, McGaughey, David M, Dong, Lijin, Shih, Grace, Vieta-Ferrer, Emile R, Onojafe, Ighovie F, Kalaskar, Vijay K, Arno, Gavin, Lotery, Andrew J, Guan, Bin, Bender, Chelsea, Memon, Omar, Brinster, Lauren, Soleilhavoup, Clement, Panman, Lia, Badea, Tudor C, Minella, Andrea, Lopez, Antonio Jacobo, Thomasy, Sara M, Moshiri, Ala, Blain, Delphine, Hufnagel, Robert B, Cogliati, Tiziana, Bharti, Kapil, Brooks, Brian P

“…Uveal coloboma is a congenital eye malformation caused by failure of the optic fissure to close in early human development. Despite significant progress in…”
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Functional and phylogenetic characterization of noncanonical vitamin B12–binding proteins in zebrafish suggests involvement in cobalamin transport by Benoit, Courtney R., Stanton, Abigail E., Tartanian, Aileen C., Motzer, Andrew R., McGaughey, David M., Bond, Stephen R., Brody, Lawrence C.

“…In humans, transport of food-derived cobalamin (vitamin B12) from the digestive system into the bloodstream involves three paralogous proteins: transcobalamin…”
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Genome-wide identification of conserved regulatory function in diverged sequences by Taher, Leila, McGaughey, David M, Maragh, Samantha, Aneas, Ivy, Bessling, Seneca L, Miller, Webb, Nobrega, Marcelo A, McCallion, Andrew S, Ovcharenko, Ivan

“…Plasticity of gene regulatory encryption can permit DNA sequence divergence without loss of function. Functional information is preserved through conservation…”
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Genomics of CpG methylation in developing and developed zebrafish by McGaughey, David M, Abaan, Hatice Ozel, Miller, Ryan M, Kropp, Peter A, Brody, Lawrence C

“…DNA methylation is a dynamic process through which specific chromatin modifications can be stably transmitted from parent to daughter cells. A large body of…”
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Functional and phylogenetic characterization of noncanonical vitamin B 12 -binding proteins in zebrafish suggests involvement in cobalamin transport by Benoit, Courtney R, Stanton, Abigail E, Tartanian, Aileen C, Motzer, Andrew R, McGaughey, David M, Bond, Stephen R, Brody, Lawrence C

“…In humans, transport of food-derived cobalamin (vitamin B ) from the digestive system into the bloodstream involves three paralogous proteins: transcobalamin…”
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Efficient discovery of ASCL1 regulatory sequences through transgene pooling by McGaughey, David M., McCallion, Andrew S.

“…Zebrafish transgenesis is a powerful and increasingly common strategy to assay vertebrate transcriptional regulatory control. Several challenges remain,…”
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Identification of RNA binding motif proteins essential for cardiovascular development by Maragh, Samantha, Miller, Ronald A, Bessling, Seneca L, McGaughey, David M, Wessels, Marja W, de Graaf, Bianca, Stone, Eric A, Bertoli-Avella, Aida M, Gearhart, John D, Fisher, Shannon, McCallion, Andrew S

“…We recently identified Rbm24 as a novel gene expressed during mouse cardiac development. Due to its tightly restricted and persistent expression from formation…”
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