ArticleAmerican journal of human genetics2000
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 91 citations in OpenAlex.
- Further phenotypic features and two novelMolecular medicine reports · 2021Article
- Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.PLoS genetics · 2020Article
- Maternal 5Frontiers in genetics · 2018Article
- Mosaic UPD(7q)mat in a patient with silver Russell syndrome.Molecular cytogenetics · 2017Article
- Aberrant methylation of imprinted genes is associated with negative hormone receptor status in invasive breast cancer.International journal of cancer · 2015Article
- Q-RRBS: a quantitative reduced representation bisulfite sequencing method for single-cell methylome analyses.Epigenetics · 2015Article
- Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Epigenetics · 2014Article
- IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome.International journal of pediatric endocrinology · 2010Article
- Massively parallel sequencing: the next big thing in genetic medicine.American journal of human genetics · 2009Review
- Genomic organization and control of the grb7 gene family.Current genomics · 2008Article
- Grb10 and Grb14: enigmatic regulators of insulin action--and more?The Biochemical journal · 2005Review
- Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 2003Article
- The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome.Journal of medical genetics · 2003Article
- Imprinting disorders: non-Mendelian mechanisms affecting growth.Journal of pediatric endocrinology & metabolism : JPEM · 2002Review
- Short interspersed transposable elements (SINEs) are excluded from imprinted regions in the human genome.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.Journal of medical genetics · 2001Review
- Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation.Journal of the National Medical Association · 2001Article
- Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression?American journal of human genetics · 2001Article
- A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.American journal of human genetics · 2001Article
- Genomic imprinting disorders in humans: a mini-review.Journal of assisted reproduction and geneticsReview
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10 authors at 4 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Documentation of maternal uniparental disomy of chromosome 7 in 10% of patients with Russell-Silver syndrome (RSS), characterized by prenatal and postnatal growth retardation and dysmorphic features, has suggested the presence of an imprinted gene on chromosome 7 whose mutation is responsible for the RSS phenotype. Human GRB10 on chromosome 7, a homologue of the mouse imprinted gene Grb10, is a candidate, because GRB10 has a suppressive effect on growth, through its interaction with either the IGF-I receptor or the GH receptor, and two patients with RSS were shown to have a maternally derived duplication of 7p11-p13, encompassing GRB10. In the present study, we first demonstrated that the GRB10 gene is also monoallelically expressed in human fetal brain tissues and is transcribed from the maternally derived allele in somatic-cell hybrids. Hence, human GRB10 is imprinted. A mutation analysis of GRB10 in 58 unrelated patients with RSS identified, within the N-terminal domain of the protein, a P95S substitution in two patients with RSS. In these two cases, the mutant allele was inherited from the mother. The fact that monoallelic GRB10 expression was observed from the maternal allele in this study suggests but does not prove that these maternally transmitted mutant alleles contribute to the RSS phenotype.
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