Mol. Cell 2020 Jan 25
Autism-Misregulated eIF4G Microexons Control Synaptic Translation and Higher Order Cognitive Functions.
Gonatopoulos-Pournatzis T, Niibori R, Salter EW, Weatheritt RJ, Tsang B, Farhangmehr S, Liang X, Braunschweig U, Roth J, Zhang S, Henderson T, Sharma E, Quesnel-Vallières M, Permanyer J, Maier S, Georgiou J, Irimia M, Sonenberg N, Forman-Kay JD, Gingras AC, Collingridge GL, Woodin MA, Cordes SP, Blencowe BJ
Microexons represent the most highly conserved class of alternative splicing, yet their functions are poorly understood. Here, we focus on closely rel ...
Read More
Source: PubMed
J Genet Couns 2020 Jan 30
Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material.
Smolich L, Charen K, Sherman SL
Women who carry a fragile X premutation are at risk for at least two major health conditions and for transmitting fragile X syndrome (FXS) to their ch ...
Read More
Source: PubMed
Brain Sci
The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development.
Shaffer RC, Schmitt L, John Thurman A, Abbeduto L, Hong M, Pedapati E, Dominick K, Sweeney J, Erickson C
Language impairment is a core difficulty in fragile X syndrome (FXS), and yet standardized measures lack the sensitivity to assess developmental chang ...
Read More
Source: PubMed
Cells
Urine microRNA Pro?ling Displays miR-125a Dysregulation in Children with Fragile X Syndrome.
Putkonen N, Laiho A, Ethell D, Pursiheimo J, Anttonen AK, Pitkonen J, Gentile AM, de Diego-Otero Y, Castrén ML
A triplet repeat expansion leading to transcriptional silencing of the FMR1 gene results in fragile X syndrome (FXS), which is a common cause of inher ...
Read More
Source: PubMed
Neurobiol. Dis. 2020 Jan 25
FMRP regulates presynaptic localization of neuronal voltage gated calcium channels.
Ferron L, Novazzi CG, Pilch KS, Moreno C, Ramgoolam K, Dolphin AC
Fragile X syndrome (FXS), the most common form of inherited intellectual disability and autism, results from the loss of fragile X mental retardation ...
Read More
Source: PubMed
Mol. Cell 2020 Jan 25
Autism-Misregulated eIF4G Microexons Control Synaptic Translation and Higher Order Cognitive Functions.
Gonatopoulos-Pournatzis T, Niibori R, Salter EW, Weatheritt RJ, Tsang B, Farhangmehr S, Liang X, Braunschweig U, Roth J, Zhang S, Henderson T, Sharma E, Quesnel-Vallières M, Permanyer J, Maier S, Georgiou J, Irimia M, Sonenberg N, Forman-Kay JD, Gingras AC, Collingridge GL, Woodin MA, Cordes SP, Blencowe BJ
Microexons represent the most highly conserved class of alternative splicing, yet their functions are poorly understood. Here, we focus on closely rel ...
Read More
Source: PubMed
J Genet Couns 2020 Jan 30
Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material.
Smolich L, Charen K, Sherman SL
Women who carry a fragile X premutation are at risk for at least two major health conditions and for transmitting fragile X syndrome (FXS) to their ch ...
Read More
Source: PubMed
Brain Sci
The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development.
Shaffer RC, Schmitt L, John Thurman A, Abbeduto L, Hong M, Pedapati E, Dominick K, Sweeney J, Erickson C
Language impairment is a core difficulty in fragile X syndrome (FXS), and yet standardized measures lack the sensitivity to assess developmental chang ...
Read More
Source: PubMed
Cells
Urine microRNA Pro?ling Displays miR-125a Dysregulation in Children with Fragile X Syndrome.
Putkonen N, Laiho A, Ethell D, Pursiheimo J, Anttonen AK, Pitkonen J, Gentile AM, de Diego-Otero Y, Castrén ML
A triplet repeat expansion leading to transcriptional silencing of the FMR1 gene results in fragile X syndrome (FXS), which is a common cause of inher ...
Read More
Source: PubMed
Neurobiol. Dis. 2020 Jan 25
FMRP regulates presynaptic localization of neuronal voltage gated calcium channels.
Ferron L, Novazzi CG, Pilch KS, Moreno C, Ramgoolam K, Dolphin AC
Fragile X syndrome (FXS), the most common form of inherited intellectual disability and autism, results from the loss of fragile X mental retardation ...
Read More
Source: PubMed
Mol. Cell 2020 Jan 25
Autism-Misregulated eIF4G Microexons Control Synaptic Translation and Higher Order Cognitive Functions.
Gonatopoulos-Pournatzis T, Niibori R, Salter EW, Weatheritt RJ, Tsang B, Farhangmehr S, Liang X, Braunschweig U, Roth J, Zhang S, Henderson T, Sharma E, Quesnel-Vallières M, Permanyer J, Maier S, Georgiou J, Irimia M, Sonenberg N, Forman-Kay JD, Gingras AC, Collingridge GL, Woodin MA, Cordes SP, Blencowe BJ
Microexons represent the most highly conserved class of alternative splicing, yet their functions are poorly understood. Here, we focus on closely rel ...
Read More
Source: PubMed
J Genet Couns 2020 Jan 30
Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material.
Smolich L, Charen K, Sherman SL
Women who carry a fragile X premutation are at risk for at least two major health conditions and for transmitting fragile X syndrome (FXS) to their ch ...
Read More
Source: PubMed
Brain Sci
The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development.
Shaffer RC, Schmitt L, John Thurman A, Abbeduto L, Hong M, Pedapati E, Dominick K, Sweeney J, Erickson C
Language impairment is a core difficulty in fragile X syndrome (FXS), and yet standardized measures lack the sensitivity to assess developmental chang ...
Read More
Source: PubMed
Cells
Urine microRNA Pro?ling Displays miR-125a Dysregulation in Children with Fragile X Syndrome.
Putkonen N, Laiho A, Ethell D, Pursiheimo J, Anttonen AK, Pitkonen J, Gentile AM, de Diego-Otero Y, Castrén ML
A triplet repeat expansion leading to transcriptional silencing of the FMR1 gene results in fragile X syndrome (FXS), which is a common cause of inher ...
Read More
Source: PubMed
Neurobiol. Dis. 2020 Jan 25
FMRP regulates presynaptic localization of neuronal voltage gated calcium channels.
Ferron L, Novazzi CG, Pilch KS, Moreno C, Ramgoolam K, Dolphin AC
Fragile X syndrome (FXS), the most common form of inherited intellectual disability and autism, results from the loss of fragile X mental retardation ...
Read More
Source: PubMed
