Search Results - "Funanage, Vicky L"

Knowledge and attitudes on pharmacogenetics among pediatricians by Rahawi, Shahad, Naik, Hetanshi, Blake, Kathryn V, Owusu Obeng, Aniwaa, Wasserman, Rachel M, Seki, Yoshinori, Funanage, Vicky L, Oishi, Kimihiko, Scott, Stuart A

“…Increasing enthusiasm for clinical pharmacogenetic testing and the availability of pharmacogenetic-based guidelines indicate that pediatricians will…”
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A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia by Hurd, Lauren, Kirwin, Susan M., Boggs, Mary, Mackenzie, William G., Bober, Michael B., Funanage, Vicky L., Duncan, Randall L.

“…Transient receptor potential cation channel, subfamily V, member 4 (TRPV4) is a polymodal modulated non‐selective cation channel required for normal…”
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Placental Leptin: An Important New Growth Factor in Intrauterine and Neonatal Development? by Hassink, Sandra G, de Lancey, Elizabeth, Sheslow, David V, Smith-Kirwin, Susan M, O'Connor, Darlise M, Considine, Robert V, Opentanova, Irina, Dostal, Kerstin, Spear, Michael L, Leef, Kathy, Ash, Melissa, Spitzer, Alan R, Funanage, Vicky L

“…Leptin, the protein product of the ob gene, is produced by the adipocyte and seems to function as a link between adiposity, satiety, and activity. Leptin has…”
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Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics by Cook, Kelsey J., Duong, Benjamin Q., Seligson, Nathan D., Arn, Pamela, Funanage, Vicky L., Gripp, Karen W., Kirwin, Susan M., Lawless, Stephen T., Lee, Mary M., Robbins, Katherine M., West, David, Blake, Kathryn V.

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Robust quantification of the SMN gene copy number by real-time TaqMan PCR by GOMEZ-CURET, Ilsa, ROBINSON, Karyn G, FUNANAGE, Vicky L, CRAWFORD, Thomas O, SCAVINA, Mena, WENLAN WANG

“…Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (SMN1). The highly…”
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A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA by Kirwin, Susan M., Vinette, Kathy M. B., Gonzalez, Iris L., Abdulwahed, Hind Al, Al‐Sannaa, Nouriya, Funanage, Vicky L.

“…Spinal muscular atrophy (SMA), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of SMN1 copy number…”
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Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation by Kirwin, Susan M., B.S, Vinette, Kathy M., M.S, Schwartz, Sharon B., M.S, Funanage, Vicky L., Ph.D, Gonzalez, Iris L., Ph.D

“…Objective To report recurrent transmissions of Barth syndrome through a single oocyte donor carrying a de novo TAZ mutation. Design Case report. Setting…”
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Changes in Circulating Satiety Hormones in Obese Children: A Randomized Controlled Physical Activity-Based Intervention Study by Balagopal, Prabhakaran (Babu), Gidding, Samuel S., Buckloh, Lisa M., Yarandi, Hossein N., Sylvester, James E., George, Donald E., Funanage, Vicky L.

“…The aims of this study are to examine in children: (i) obesity‐related alterations in satiety factors such as leptin, ghrelin, and obestatin; (ii) the link…”
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SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR by Stabley, Deborah L., Harris, Ashlee W., Holbrook, Jennifer, Chubbs, Nicholas J., Lozo, Kevin W., Crawford, Thomas O., Swoboda, Kathryn J., Funanage, Vicky L., Wang, Wenlan, Mackenzie, William, Scavina, Mena, Sol‐Church, Katia, Butchbach, Matthew E. R.

“…Proximal spinal muscular atrophy (SMA) is an early‐onset motor neuron disease characterized by loss of α‐motor neurons and associated muscle atrophy. SMA is…”
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Leptin enhances lung maturity in the fetal rat by KIRWIN, Susan M, BHANDARI, Vineet, DIMATTEO, Darlise, BARONE, Carol, JOHNSON, Linda, PAUL, Saptarashi, SPITZER, Alan R, CHANDER, Avinash, HASSINK, Sandra G, FUNANAGE, Vicky L

“…Pulmonary alveolar type II cells synthesize and secrete phospholipids and surfactant proteins. In most mammalian species, the synthesis of phospholipids and…”
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Impact of Genetic Testing on Human Health:: The Current Landscape and Future for Personalized Medicine by Funanage, Vicky L

“…Advances in the field of human genetics over the past three decades have led to improvements in human health through development and availability of novel…”
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The Importance of Research in Addressing the COVID-19 Pandemic:: Focus on the Use of Serology Testing by Funanage, Vicky L

“…The Coronavirus disease 2019 (COVID-19) pandemic caused by SARS-CoV-2 has resulted in a global health emergency with major social and economic disruption. With…”
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Recombinant human Clara cell secretory protein treatment increases lung mRNA expression of surfactant proteins and vascular endothelial growth factor in a premature lamb model of respiratory distress syndrome by Wolfson, Marla R, Funanage, Vicky L, Kirwin, Susan M, Pilon, Aprile L, Shashikant, Beth N, Miller, Thomas L, Shaffer, Thomas H

“…Infant respiratory distress syndrome (IRDS) can lead to impaired alveolarization and dysmorphic vascularization of bronchopulmonary dysplasia. Clara cell…”
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Leptin Expression in Human Mammary Epithelial Cells and Breast Milk by Smith-Kirwin, Susan M, O’Connor, Darlise M, Johnston, Jennifer, de Lancy, Elizabeth, Hassink, Sandra G, Funanage, Vicky L

“…Leptin has recently been shown to be produced by the human placenta and potentially plays a role in fetal and neonatal growth. Many functions of the placenta…”
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3-methylglutaconic aciduria disorders: the clinical spectrum increases by Arn, Pamela, Funanage, Vicky L

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Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent by Wu, Chia-Yen, Gómez-Curet, Ilsa, Funanage, Vicky L, Scavina, Mena, Wang, Wenlan

“…Deletion or mutation(s) of the survival motor neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA). The SMN protein is known to play a role in RNA…”
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Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome by Johnston, Jennifer, Kelley, Richard I., Feigenbaum, Annette, Cox, Gerald F., Iyer, Geeta S., Funanage, Vicky L., Proujansky, Roy

“…Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been…”
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A homozygous double mutation in SMN 1 : a complicated genetic diagnosis of SMA by Kirwin, Susan M., Vinette, Kathy M. B., Gonzalez, Iris L., Abdulwahed, Hind Al, Al‐Sannaa, Nouriya, Funanage, Vicky L.

“…Abstract Spinal muscular atrophy ( SMA ), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of SMN 1 copy…”
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Robust quantification of the SMN gene copy number by real-time TaqMan PCR by Gómez-Curet, Ilsa, Robinson, Karyn G., Funanage, Vicky L., Crawford, Thomas O., Scavina, Mena, Wang, Wenlan

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Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death by Wang, Wenlan, DiMatteo, Darlise, Funanage, Vicky L., Scavina, Mena

“…Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the telomeric copy of the survival motor neuron ( SMN1) gene…”
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