Search Results - "Spellicy, Catherine J"

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? by Spellicy, Catherine J, Peng, Yunhui, Olewiler, Leah, Cathey, Sara S, Rogers, R Curtis, Bartholomew, Dennis, Johnson, Jacob, Alexov, Emil, Lee, Jennifer A, Friez, Michael J, Jones, Julie R

“…Variants have been identified in the embryonic ectoderm development (EED) gene in seven patients with syndromic overgrowth similar to that observed in Weaver…”
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Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients by Spellicy, Catherine J, Northrup, Hope, Fletcher, Jack M, Cirino, Paul T, Dennis, Maureen, Morrison, Alanna C, Martinez, Carla A, Au, Kit Sing

“…The objective of this study was to examine the relation between the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene and behaviors related to attention-…”
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Apolipoprotein E DNA methylation and posttraumatic stress disorder are associated with plasma ApoE level: A preliminary study by Nielsen, David A., Spellicy, Catherine J., Harding, Mark J., Graham, David P.

“…•Plasma ApoE was associated with PTSD and APOE-ε4 genotype status.•Interaction observed among APOE-ε4 genotype, PTSD diagnosis, and APOE methylation. Mild…”
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Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome by Cooley Coleman, Jessica A., Fee, Timothy, Bend, Renee, Louie, Raymond, Annese, Fran, Stallworth, Jennifer, Worthington, Jessica, Buchanan, Caroline Black, Everman, David B., Skinner, Steven, Friez, Michael J., Jones, Julie R., Spellicy, Catherine J.

“…Rett (RTT) syndrome, a neurodevelopmental disorder caused by pathogenic variation in the MECP2 gene, is characterized by developmental regression, loss of…”
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Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects by Spellicy, Catherine J, Norris, Joy, Bend, Renee, Bupp, Caleb, Mester, Paul, Reynolds, Tracy, Dean, Jane, Peng, Yunhui, Alexov, Emil, Schwartz, Charles E, Stevenson, Roger S, J Friez, Michael

“…Neural tube defects (NTDs) remain one of the most serious birth defects, and although genes in several pathways have been implicated as risk factors for neural…”
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Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome by Stevenson, Roger E., Vincent, Victoria, Spellicy, Catherine J., Friez, Michael J., Chaubey, Alka

“…Random mating in the general population tends to limit the occurrence of homozygous and compound heterozygous forms of dominant hereditary disorders. Certain…”
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Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families by Sullivan, Lori S, Bowne, Sara J, Birch, David G, Hughbanks-Wheaton, Dianna, Heckenlively, John R, Lewis, Richard Alan, Garcia, Charles A, Ruiz, Richard S, Blanton, Susan H, Northrup, Hope, Gire, Anisa I, Seaman, Robyn, Duzkale, Hatice, Spellicy, Catherine J, Zhu, Jingya, Shankar, Suma P, Daiger, Stephen P

“…To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP. Two hundred adRP…”
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The OPRD1 rs678849 variant influences outcome of disulfiram treatment for cocaine dependency in methadone-maintained patients by Thomas, Patrick S., Nielsen, Ellen M., Spellicy, Catherine J., Harding, Mark J., Ye, An, Patriquin, Michelle, Hamon, Sara C., Kosten, Thomas R., Nielsen, David A.

“…Prior research demonstrated that the δ-opioid receptor (OPRD1) rs678849 variant influences opioid use in African Americans treated with methadone. We examined…”
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Pharmacogenetic role of dopamine transporter (SLC6A3) variation on response to disulfiram treatment for cocaine addiction by Kampangkaew, June P., Spellicy, Catherine J., Nielsen, Ellen M., Harding, Mark J., Ye, An, Hamon, Sara C., Kosten, Thomas R., Nielsen, David A.

“…Background and Objectives Disulfiram has been beneficial in treating cocaine addiction in several studies. Patients with two SLC6A3 (DAT1) rs28363170 10‐repeat…”
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Pharmacogenetics of addiction therapy by Nielsen, David A, Nielsen, Ellen M, Dasari, Teja, Spellicy, Catherine J

“…Drug addiction is a serious relapsing disease that has high costs to society and to the individual addicts. Treatment of these addictions is still in its…”
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ANKK1 and DRD2 pharmacogenetics of disulfiram treatment for cocaine abuse by Spellicy, Catherine J, Kosten, Thomas R, Hamon, Sara C, Harding, Mark J, Nielsen, David A

“…OBJECTIVEDisulfiram is a potential cocaine addiction pharmacotherapy. Since dopamine deficiency has been found with cocaine addiction, our objective was to…”
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Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions by Monnens, Yenthe, Theodoropoulou, Anastasia, Rosier, Karen, Bhalla, Kritika, Mahy, Alexia, Vanhoutte, Roeland, Meulemans, Sandra, Cavani, Edoardo, Antanasijevic, Aleksandar, Lemmens, Irma, Lee, Jennifer A, Spellicy, Catherine J, Schroer, Richard J, Maselli, Ricardo A, Laverty, Chamindra G, Agostinis, Patrizia, Pagliarini, David J, Verhelst, Steven, Marcaida, Maria J, Rochtus, Anne, Dal Peraro, Matteo, Creemers, John Wm

“…Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a rare genetic disorder caused by deleterious genetic variation in the prolyl endopeptidase-like…”
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Transgenerational Inheritance of Familial Lipomyelomeningocele by Larrew, Thomas, Eskandari, Ramin, Holden, Kenton R., Chen, Amy, Spellicy, Catherine J., Jones, Julie R., Lee, Jennifer A., Lyons, Michael J.

“…Lipomyelomeningocele is a type of neural tube defect characterized by lipomatous tissue causing a defect in the vertebrae, infiltrating the dura, and tethering…”
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Genetic variation of the dopamine transporter (DAT1) influences the acute subjective responses to cocaine in volunteers with cocaine use disorders by Brewer, Alex J, Nielsen, David A, Spellicy, Catherine J, Hamon, Sara C, Gingrich, Justin, Thompson-Lake, Daisy G.Y, Nielsen, Ellen M, Mahoney, James J, Kosten, Thomas R, Newton, Thomas F, De La Garza, Richard

“…OBJECTIVEThe aim of this study was to identify gene variants of DAT1 (SLC6A3) that modulate subjective responses to acute cocaine exposure…”
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Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis by Bowne, Sara J, Sullivan, Lori S, Mortimer, Sarah E, Hedstrom, Lizbeth, Zhu, Jingya, Spellicy, Catherine J, Gire, Anisa I, Hughbanks-Wheaton, Dianna, Birch, David G, Lewis, Richard A, Heckenlively, John R, Daiger, Stephen P

“…The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with…”
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Interaction of gender and genetics in response to cocaine vaccine by Spellicy, Catherine J, Nielsen, David A, Hamon, S.C, Kosten, T.R, Harding, M.J

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Why Do Mutations in the Ubiquitously Expressed Housekeeping Gene IMPDH1 Cause Retina-Specific Photoreceptor Degeneration? by Bowne, Sara J, Liu, Qin, Sullivan, Lori S, Zhu, Jingya, Spellicy, Catherine J, Rickman, Catherine Bowes, Pierce, Eric A, Daiger, Stephen P

“…The purpose of this study was to investigate retinal inosine monophosphate dehydrogenase 1 (IMPDH1) transcripts and proteins to gain an understanding of how…”
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Serotonin transporter gene promoter polymorphism predicts relationship between years of cocaine use and impulsivity by Liu, Shijing, Maili, Lorena, Lane, Scott D, Schmitz, Joy M, Spellicy, Catherine J, Cunningham, Kathryn A, Moeller, F Gerard, Nielsen, David A

“…This study investigated the relationship between the serotonin transporter gene (SLC6A45) 5-HTTLPR genotypes, cocaine-dependence, and impulsivity. A total of…”
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Retinal isoforms of inosine 5′-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins by Xu, Dong, Cobb, Garrett, Spellicy, Catherine J., Bowne, Sara J., Daiger, Stephen P., Hedstrom, Lizbeth

“…The RP 10 form of autosomal dominant retinitis pigmentosa (adRP) is caused by mutations in the widely expressed protein inosine 5′-monophosphate dehydrogenase…”
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The MTHFR C677T Variant is Associated with Responsiveness to Disulfiram Treatment for Cocaine Dependency by Spellicy, Catherine J, Kosten, Thomas R, Hamon, Sara C, Harding, Mark J, Nielsen, David A

“…Disulfiram is a one of the few pharmacotherapies for cocaine addiction that shows promise. Since disulfiram and cocaine both affect levels of global…”
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