Search Results - "Espinal, Glenda M"

Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions by Kim, Kyoungmi, Hessl, David, Randol, Jamie L, Espinal, Glenda M, Schneider, Andrea, Protic, Dragana, Aydin, Elber Yuksel, Hagerman, Randi J, Hagerman, Paul J

“…Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat…”
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Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome by Robin, Gaëlle, López, José R, Espinal, Glenda M, Hulsizer, Susan, Hagerman, Paul J, Pessah, Isaac N

“…Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in…”
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Clinical and molecular correlates in fragile X premutation females by Jiraanont, Poonnada, Sweha, Stefan R., AlOlaby, Reem R., Silva, Marisol, Tang, Hiu-Tung, Durbin-Johnson, Blythe, Schneider, Andrea, Espinal, Glenda M., Hagerman, Paul J., Rivera, Susan M., Hessl, David, Hagerman, Randi J., Chutabhakdikul, Nuanchan, Tassone, Flora

“…The prevalence of the fragile X premutation (55–200 CGG repeats) among the general population is relatively high, but there remains a lack of clear…”
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FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation by Jiraanont, Poonnada, Zafarullah, Marwa, Sulaiman, Noor, Espinal, Glenda M., Randol, Jamie L., Durbin-Johnson, Blythe, Schneider, Andrea, Hagerman, Randi J., Hagerman, Paul J., Tassone, Flora

“…Fragile X syndrome (FXS) is the most common heritable form of intellectual disability and is caused by CGG repeat expansions exceeding 200 (full mutation)…”
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Mouse hepatic lipase alleles with variable effects on lipoprotein composition and size[S] by Pratt, Serena M., Chiu, Sally, Espinal, Glenda M., Shibata, Noreene M., Wong, Howard, Warden, Craig H.

“…The structural features responsible for the activities of hepatic lipase (HL) can be clarified by in vivo comparisons of naturally occurring variants. The…”
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In vivo multiplex quantitative analysis of 3 forms of alpha melanocyte stimulating hormone in pituitary of prolyl endopeptidase deficient mice by Perroud, Bertrand, Alvarado, Rudy J, Espinal, Glenda M, Morado, Alex R, Phinney, Brett S, Warden, Craig H

“…In vitro reactions are useful to identify putative enzyme substrates, but in vivo validation is required to identify actual enzyme substrates that have…”
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CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size by Ludwig, Anna Lisa, Espinal, Glenda M, Pretto, Dalyir I, Jamal, Amanda L, Arque, Gloria, Tassone, Flora, Berman, Robert F, Hagerman, Paul J

“…Large expansions of a CGG-repeat element (>200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the…”
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Identification of positional candidate genes for body weight and adiposity in subcongenic mice by Chiu, Sally, Kim, Kyoungmi, Haus, Kari A, Espinal, Glenda M, Millon, Lee V, Warden, Craig H

“…1 Rowe Program in Genetics, University of California, Davis, California 2 School of Veterinary Medicine, University of California, Davis, California 3 Section…”
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The Yellow Agouti Mutation Alters Some But Not All Responses to Diet and Exercise by Chiu, Sally, Fisler, Janis S., Espinal, Glenda M., Havel, Peter J., Stern, Judith S., Warden, Craig H.

“…Objective: Effects of ectopic expression of the agouti signaling protein were studied on responses to diet restriction and exercise in C57BL/6J (B6) mice and…”
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Association between IQ and FMR1 protein by Kim, Kyoungmi, Hessl, David, Randol, Jamie L, Espinal, Glenda M, Schneider, Andrea, Protic, Dragana, Aydin, Elber Yuksel, Hagerman, Randi J, Hagerman, Paul J

“…Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat…”
Get full text