El síndrome X frágil: Un modelo de la relación gen-cerebro-conducta

Translated title of the contribution: Fragile X syndrome: A model of gene-brain-behaviour relationships

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Introduction. Sequencing of the fragile X mental retardation 1 (FMR1) gene and the measurements of the gene product FMRP, have enabled protein quantification of variations within the FMR1 gene and FMRP-clinical correlations. Development. This paper will review our knowledge of the regulation of FMR1 gene expression and the genotype-phenotype relationships. The clinical variability is related to several factors including: 1) molecular variations at FMR1 leading to a range of FMRP levels, 2) the combined effect of background genes interacting directly or indirectly with FMRP, 3) environmental factors which can either enhance or impede development and the degree of dysfunction which ensues. Conclusion. Advances in neuroimaging, neurosciences, and knockout mice further our understanding of the gene-brain-behavior relationships in Fragile X Syndrome.

Original languageSpanish
JournalRevista de Neurologia
Volume33
Issue numberSUPPL. 1
StatePublished - 2001

Fingerprint

Fragile X Syndrome
Intellectual Disability
Brain
Genes
Neurosciences
Knockout Mice
Neuroimaging
Genotype
Phenotype
Gene Expression
Proteins

Keywords

  • Behaviour
  • FMR1 MRNA
  • FMRP
  • Fragile X syndrome

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

El síndrome X frágil : Un modelo de la relación gen-cerebro-conducta. / Hagerman, Randi J.

In: Revista de Neurologia, Vol. 33, No. SUPPL. 1, 2001.

Research output: Contribution to journalArticle

@article{2d0404b4c19344e8846a7601a2ada35b,
title = "El s{\'i}ndrome X fr{\'a}gil: Un modelo de la relaci{\'o}n gen-cerebro-conducta",
abstract = "Introduction. Sequencing of the fragile X mental retardation 1 (FMR1) gene and the measurements of the gene product FMRP, have enabled protein quantification of variations within the FMR1 gene and FMRP-clinical correlations. Development. This paper will review our knowledge of the regulation of FMR1 gene expression and the genotype-phenotype relationships. The clinical variability is related to several factors including: 1) molecular variations at FMR1 leading to a range of FMRP levels, 2) the combined effect of background genes interacting directly or indirectly with FMRP, 3) environmental factors which can either enhance or impede development and the degree of dysfunction which ensues. Conclusion. Advances in neuroimaging, neurosciences, and knockout mice further our understanding of the gene-brain-behavior relationships in Fragile X Syndrome.",
keywords = "Behaviour, FMR1 MRNA, FMRP, Fragile X syndrome",
author = "Hagerman, {Randi J}",
year = "2001",
language = "Spanish",
volume = "33",
journal = "Revista de Neurologia",
issn = "0210-0010",
publisher = "Revista de Neurologia",
number = "SUPPL. 1",

}

TY - JOUR

T1 - El síndrome X frágil

T2 - Un modelo de la relación gen-cerebro-conducta

AU - Hagerman, Randi J

PY - 2001

Y1 - 2001

N2 - Introduction. Sequencing of the fragile X mental retardation 1 (FMR1) gene and the measurements of the gene product FMRP, have enabled protein quantification of variations within the FMR1 gene and FMRP-clinical correlations. Development. This paper will review our knowledge of the regulation of FMR1 gene expression and the genotype-phenotype relationships. The clinical variability is related to several factors including: 1) molecular variations at FMR1 leading to a range of FMRP levels, 2) the combined effect of background genes interacting directly or indirectly with FMRP, 3) environmental factors which can either enhance or impede development and the degree of dysfunction which ensues. Conclusion. Advances in neuroimaging, neurosciences, and knockout mice further our understanding of the gene-brain-behavior relationships in Fragile X Syndrome.

AB - Introduction. Sequencing of the fragile X mental retardation 1 (FMR1) gene and the measurements of the gene product FMRP, have enabled protein quantification of variations within the FMR1 gene and FMRP-clinical correlations. Development. This paper will review our knowledge of the regulation of FMR1 gene expression and the genotype-phenotype relationships. The clinical variability is related to several factors including: 1) molecular variations at FMR1 leading to a range of FMRP levels, 2) the combined effect of background genes interacting directly or indirectly with FMRP, 3) environmental factors which can either enhance or impede development and the degree of dysfunction which ensues. Conclusion. Advances in neuroimaging, neurosciences, and knockout mice further our understanding of the gene-brain-behavior relationships in Fragile X Syndrome.

KW - Behaviour

KW - FMR1 MRNA

KW - FMRP

KW - Fragile X syndrome

UR - http://www.scopus.com/inward/record.url?scp=11244264740&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=11244264740&partnerID=8YFLogxK

M3 - Article

C2 - 12447820

AN - SCOPUS:11244264740

VL - 33

JO - Revista de Neurologia

JF - Revista de Neurologia

SN - 0210-0010

IS - SUPPL. 1

ER -