Silver Russell Syndrome
Mostrando 13-16 de 16 artigos, teses e dissertações.
-
13. Maternal uniparental disomy 7 in Silver-Russell syndrome.
Silver-Russell syndrome (SRS) is characterised by intrauterine and postnatal growth failure accompanied by a variable number of dysmorphic features. It is usually sporadic although a few familial cases have been described. In a prospective study of 33 patients with sporadic SRS, we have studied the parent of origin of chromosome 7 using variable number tande
-
14. Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver–Russell syndrome gene
In a systematic screen for maternally expressed imprinted genes using subtraction hybridization with androgenetic and normal fertilized mouse embryos, seven candidate maternally expressed genes (Megs) have been isolated, including the H19 and p57Kip2 genes that are known to be maternally expressed. Herein, we demonstrate that an imprinted gene, Meg1, is appa
The National Academy of Sciences.
-
15. A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene Region
Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in ∼10% of patients with Silver-Russell syndrome (SRS). It has been suggested that at least one imprinted gene that regulates growth and development resides on human chromosome 7. To date, three imprinted genes—PEG1/MEST, γ2-COP,
The American Society of Human Genetics.
-
16. Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism
To investigate the function of the Grb10 adapter protein, we have generated mice in which the Grb10 gene was disrupted by a gene-trap insertion. Our experiments confirm that Grb10 is subject to genomic imprinting with the majority of Grb10 expression arising from the maternally inherited allele. Consistent with this, disruption of the maternal allele re
National Academy of Sciences.