Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome
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作者:
Randol, Jamie L.
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Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USAUniv Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
Randol, Jamie L.
[1
]
Kim, Kyoungmi
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机构:
UC Davis Hlth, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USA
Univ Calif Davis, Sch Med, Dept Publ Hlth Sci, Davis, CA 95616 USAUniv Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
Kim, Kyoungmi
[2
,3
]
Ponzini, Matthew D.
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机构:
UC Davis Hlth, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USA
Univ Calif Davis, Sch Med, Dept Publ Hlth Sci, Davis, CA 95616 USAUniv Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
Ponzini, Matthew D.
[2
,3
]
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Tassone, Flora
[1
,2
]
Falcon, Alexandria K.
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机构:
Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USAUniv Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
Falcon, Alexandria K.
[1
]
Hagerman, Randi J.
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机构:
UC Davis Hlth, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USA
Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA 95817 USAUniv Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
Hagerman, Randi J.
[2
,4
]
Hagerman, Paul J.
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机构:
Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
UC Davis Hlth, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USAUniv Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
Hagerman, Paul J.
[1
,2
]
机构:
[1] Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA
[2] UC Davis Hlth, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA 95817 USA
[3] Univ Calif Davis, Sch Med, Dept Publ Hlth Sci, Davis, CA 95616 USA
[4] Univ Calif Davis, Sch Med, Dept Pediat, Sacramento, CA 95817 USA
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and autism spectrum disorder. The syndrome is often caused by greatly reduced or absent protein expression from the fragile X messenger ribonucleoprotein 1 (FMR1) gene due to expansion of a 5 '-non-coding trinucleotide (CGG) element beyond 200 repeats (full mutation). To better understand the complex relationships among FMR1 allelotype, methylation status, mRNA expression, and FMR1 protein (FMRP) levels, FMRP was quantified in peripheral blood mononuclear cells for a large cohort of FXS (n = 154) and control (n = 139) individuals using time-resolved fluorescence resonance energy transfer. Considerable size and methylation mosaicism were observed among individuals with FXS, with FMRP detected only in the presence of such mosaicism. No sample with a minimum allele size greater than 273 CGG repeats had significant levels of FMRP. Additionally, an association was observed between FMR1 mRNA and FMRP levels in FXS samples, predominantly driven by those with the lowest FMRP values. This study underscores the complexity of FMR1 allelotypes and FMRP expression and prompts a reevaluation of FXS therapies aimed at reactivating large full mutation alleles that are likely not capable of producing sufficient FMRP to improve cognitive function.
机构:
Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Boggs, Anna E.
Schmitt, Lauren M.
论文数: 0引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Dev & Behav Pediat, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Schmitt, Lauren M.
McLane, Richard D.
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h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
McLane, Richard D.
Adayev, Tatyana
论文数: 0引用数: 0
h-index: 0
机构:
New York State Inst Basic Res Dev Disabil, Dept Human Genet, 1050 Forest Hill Rd, Staten Isl, NY 10314 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Adayev, Tatyana
LaFauci, Giuseppe
论文数: 0引用数: 0
h-index: 0
机构:
New York State Inst Basic Res Dev Disabil, Dept Human Genet, 1050 Forest Hill Rd, Staten Isl, NY 10314 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
LaFauci, Giuseppe
Horn, Paul S.
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h-index: 0
机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Cincinnati Childrens Hosp Med Ctr, Div Neurol, 3333 Burnet Ave, Cincinnati, OH 45229 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Horn, Paul S.
Dominick, Kelli C.
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h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Univ Cincinnati, Coll Med, Dept Psychiat & Behav Neurosci, Cincinnati, OH 45221 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Dominick, Kelli C.
Gross, Christina
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机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Cincinnati Childrens Hosp Med Ctr, Div Neurol, 3333 Burnet Ave, Cincinnati, OH 45229 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Gross, Christina
Erickson, Craig A.
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h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Univ Cincinnati, Coll Med, Dept Psychiat & Behav Neurosci, Cincinnati, OH 45221 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
机构:
Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Sharp, Kevin
Adayev, Tatyana
论文数: 0引用数: 0
h-index: 0
机构:
Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Adayev, Tatyana
LaFauci, Giuseppe
论文数: 0引用数: 0
h-index: 0
机构:
Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
LaFauci, Giuseppe
Dobkin, Carl
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h-index: 0
机构:
Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Dobkin, Carl
Zhou, Lili
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机构:
Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Zhou, Lili
Brown, William Ted
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机构:
Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Brown, William Ted
Berry-Kravis, Elizabeth
论文数: 0引用数: 0
h-index: 0
机构:
Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA
Rush Univ, Med Ctr, Dept Neurol Sci & Biochem, Chicago, IL 60612 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Berry-Kravis, Elizabeth
Kaufmann, Walter E.
论文数: 0引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Harvard Med Sch, Boston Childrens Hosp, Boston, MA 02115 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
机构:
Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USAWashington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA
Deng, Pan-Yue
Klyachko, Vitaly A.
论文数: 0引用数: 0
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机构:
Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USAWashington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA
机构:
Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Boggs, Anna E.
Schmitt, Lauren M.
论文数: 0引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Dev & Behav Pediat, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Schmitt, Lauren M.
McLane, Richard D.
论文数: 0引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
McLane, Richard D.
Adayev, Tatyana
论文数: 0引用数: 0
h-index: 0
机构:
New York State Inst Basic Res Dev Disabil, Dept Human Genet, 1050 Forest Hill Rd, Staten Isl, NY 10314 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Adayev, Tatyana
LaFauci, Giuseppe
论文数: 0引用数: 0
h-index: 0
机构:
New York State Inst Basic Res Dev Disabil, Dept Human Genet, 1050 Forest Hill Rd, Staten Isl, NY 10314 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
LaFauci, Giuseppe
Horn, Paul S.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Cincinnati Childrens Hosp Med Ctr, Div Neurol, 3333 Burnet Ave, Cincinnati, OH 45229 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Horn, Paul S.
Dominick, Kelli C.
论文数: 0引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Univ Cincinnati, Coll Med, Dept Psychiat & Behav Neurosci, Cincinnati, OH 45221 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Dominick, Kelli C.
Gross, Christina
论文数: 0引用数: 0
h-index: 0
机构:
Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
Cincinnati Childrens Hosp Med Ctr, Div Neurol, 3333 Burnet Ave, Cincinnati, OH 45229 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Gross, Christina
Erickson, Craig A.
论文数: 0引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
Univ Cincinnati, Coll Med, Dept Psychiat & Behav Neurosci, Cincinnati, OH 45221 USACincinnati Childrens Hosp Med Ctr, Div Child & Adolescent Psychiat MLC 4002, 3333 Burnet Ave, Cincinnati, OH 45229 USA
机构:
Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Sharp, Kevin
Adayev, Tatyana
论文数: 0引用数: 0
h-index: 0
机构:
Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Adayev, Tatyana
LaFauci, Giuseppe
论文数: 0引用数: 0
h-index: 0
机构:
Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
LaFauci, Giuseppe
Dobkin, Carl
论文数: 0引用数: 0
h-index: 0
机构:
Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Dobkin, Carl
Zhou, Lili
论文数: 0引用数: 0
h-index: 0
机构:
Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Zhou, Lili
Brown, William Ted
论文数: 0引用数: 0
h-index: 0
机构:
Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Brown, William Ted
Berry-Kravis, Elizabeth
论文数: 0引用数: 0
h-index: 0
机构:
Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA
Rush Univ, Med Ctr, Dept Neurol Sci & Biochem, Chicago, IL 60612 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
Berry-Kravis, Elizabeth
Kaufmann, Walter E.
论文数: 0引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
Harvard Med Sch, Boston Childrens Hosp, Boston, MA 02115 USAKennedy Krieger Inst, Fragile Clin 10, Dept Psychiat, Baltimore, MD 21205 USA
机构:
Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USAWashington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA
Deng, Pan-Yue
Klyachko, Vitaly A.
论文数: 0引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USAWashington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA