Search Results - "Solache, Irma Lopez"

Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance by Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez‐Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui

“…The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis…”
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Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee by Coussa, Razek Georges, Lopez Solache, Irma, Koenekoop, Robert K.

“…This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins' Wilmer Eye Institute, Ocular Genetics…”
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Regulation of uncoupling protein-2 mRNA in L6 myotubules: I: Thiazolidinediones stimulate uncoupling protein-2 gene expression by a mechanism requiring ongoing protein synthesis and an active mitogen-activated protein kinase by López-Solache, Irma, Marie, Véronique, Vignault, Erika, Camirand, Anne, Silva, J Enrique

“…The mitochondrial uncoupling protein-2 (UCP2) can uncouple phosphorylation to subserve several functions. It has been reported that the insulin sensitizers,…”
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Regulation of uncoupling protein-2 mRNA in L6 myotubules: II: Thyroid hormone amplifies stimulation of uncoupling protein-2 gene by thiazolidinediones and other peroxisome proliferator-activated receptor ligands in L6 myotubules: evidence for a priming effect by López-Solache, Irma, Marie, Véronique, Camirand, Anne, Silva, J Enrique

“…The stimulation of the uncoupling protein-2 gene (ucp2) by thyroid hormone (triiodothyronine [T3]) in vivo is variable, suggesting complex interactions and…”
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Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities by Zhang, Alice Yang, Mysore, Naveen, Vali, Hojatollah, Koenekoop, Jamie, Cao, Sang Ni, Li, Shen, Ren, Huanan, Keser, Vafa, Lopez-Solache, Irma, Siddiqui, Sorath Noorani, Khan, Ayesha, Mui, Jeannie, Sears, Kelly, Dixon, Jim, Schwartzentruber, Jeremy, Majewski, Jacek, Braverman, Nancy, Koenekoop, Robert K

“…Photoreceptor neuronal degenerations are common, incurable causes of human blindness affecting 1 in 2000 patients worldwide. Only half of all patients are…”
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A Review of Secondary Photoreceptor Degenerations in Systemic Disease by Mysore, Naveen, Koenekoop, Jamie, Li, Shen, Ren, Huanan, Keser, Vafa, Lopez-Solache, Irma, Koenekoop, Robert K

“…Photoreceptor neuronal degenerations are common and incurable causes of human blindness with one in 2000 affected. Approximately, half of all patients are…”
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Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance by Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez-Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui

“…The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis…”
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Characterization, Expression, and Immunohistochemical Localization of 5α-Reductase in Human Skin by Luu-The, Van, Sugimoto, Yasuro, Puy, Libertad, Labrie, Yvan, Solache, Irma Lopez, Singh, Mohan, Labrie, Fernand

“…Human skin has been shown to contain a high level of 5α-reductase activity, the enzyme that catalyses the conversion of the weak androgen testosterone into…”
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Cloning and expression of cDNA encoding human placental estrogen sulfotransferase by Bernier, F, Lopez Solache, I, Labrie, F, Luu-The, V

“…Using two oligoprimers derived from the bovine placental estrogen sulfotransferase sequence, we amplified a probe for human placental estrogen…”
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Heterogeneity of rat type I 5α-reductase cDNA: cloning, expression and regulation by pituitary implants and dihydrotestosterone by Lopez-Solache, Irma, Luu-The, Van, Sŕalini, Gilles-Eric, Labrie, Fernand

“…Primer extension analysis reveals the presence of different forms of mRNA species for rat type I 5α-reductase. Using a 5α-reductase cDNA probe to screen the…”
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Regulation of uncoupling protein-2 mRNA in L6 myotubules by López-Solache Irma, Marie, Véronique, Camirand, Anne, Silva J Enrique Dr

“…The stimulation of the uncoupling protein-2 gene (ucp2) by thyroid hormone (triiodothyronine [T3]) in vivo is variable, suggesting complex interactions and…”
Get full text

Regulation of uncoupling protein-2 mRNA in L6 myotubules by López-Solache Irma, Marie, Véronique, Vignault Erika, Camirand, Anne, Silva J Enrique Dr

“…The mitochondrial uncoupling protein-2 (UCP2) can uncouple phosphorylation to subserve several functions. It has been reported that the insulin sensitizers,…”
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Cations Inhibit Specifically Type I 5α-Reductase Found in Human Skin by Sugimoto, Yasuro, López-Solache, Irma, Labrie, Fernand, Luu-The, V.a.n.

“…Steroid 5α-reductase catalyzes the reduction of testosterone into the very potent androgen dihydrotestosterone. Previously, we showed that human type I…”
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