TY  - JOUR
AU  - Putkonen, Noora
AU  - Laiho, Asta
AU  - Ethell, Doug
AU  - Pursiheimo, Juha
AU  - Anttonen, Anna-Kaisa
AU  - Pitkonen, Juho
AU  - Gentile, Adriana M.
AU  - de Diego-Otero, Yolanda
AU  - Castrén, Maija L.
PY  - 2020
DO  - 10.3390/cells9020289
UR  - http://hdl.handle.net/10668/4329
T2  - Cells
AB  - A triplet repeat expansion leading to transcriptional silencing of the FMR1 gene results in fragile X syndrome (FXS), which is a common cause of inherited intellectual disability and autism. Phenotypic variation requires personalized treatment...
LA  - en
PB  - MDPI
KW  - Disease biomarker
KW  - Urine miRNA
KW  - Fragile X syndrome
KW  - Autism
KW  - MiR-125a
KW  - MicroRNA
KW  - Child
KW  - Urine
KW  - Intellectual disability
KW  - Síndrome del cromosoma X frágil
KW  - MicroARNs
KW  - Niño
KW  - Orina
KW  - Discapacidad intelectual
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adolescent
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Child
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Child::Child, Preschool
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Diseases::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability::Mental Retardation, X-Linked::Fragile X Syndrome
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Antisense Elements (Genetics)::RNA, Antisense::MicroRNAs
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, G-Protein-Coupled::Receptors, Metabotropic Glutamate
KW  - Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::Signal Transduction
TI  - Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome
TY  - research article
ER  -