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10.1086/302717 http://scihub22266oqcxt.onion/10.1086/302717 10631135/?report=reader!1288348!10631135     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2000 ; 66 (1): 36-46 Nephropedia Template TP {{tp|p=10631135|t=2000. Duplication of 7p11 2-p13, including GRB10, in Silver-Russell syndrome |pdf=|usr=}}{{10631135}} gab.com Text Duplication of 7p11 2-p13, including GRB10, in Silver-Russell syndrome JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=10631135 #FOAvip Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth failure and other dysmorphic features. The syndrome is genetically heterogeneous, but maternal uniparental disomy of chromosome 7 has been demonstrated in approximately 7% of cases. This suggests that at least one gene on chromosome 7 is imprinted and involved in the pathogenesis of SRS. We have identified a de novo duplication of 7p11.2-p13 in a proband with features characteristic of SRS. FISH confirmed the presence of a tandem duplication encompassing the genes for growth factor receptor-binding protein 10 (GRB10) and insulin-like growth factor-binding proteins 1 and 3 (IGFBP1 and -3) but not that for epidermal growth factor-receptor (EGFR). Microsatellite markers showed that the duplication was of maternal origin. These findings provide the first evidence that SRS may result from overexpression of a maternally expressed imprinted gene, rather than from absent expression of a paternally expressed gene. GRB10 lies within the duplicated region and is a strong candidate, since it is a known growth suppressor. Furthermore, the mouse homologue (Grb10/Meg1) is reported to be maternally expressed and maps to the imprinted region of proximal mouse chromosome 11 that demonstrates prenatal growth failure when it is maternally disomic. We have demonstrated that the GRB10 genomic interval replicates asynchronously in human lymphocytes, suggestive of imprinting. An additional 36 SRS probands were investigated for duplication of GRB10, but none were found. However, it remains possible that GRB10 and/or other genes within 7p11.2-p13 are responsible for some cases of SRS. Twit Text FOAVip Duplication of 7p11 2-p13, including GRB10, in Silver-Russell syndrome ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=10631135 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=10631135 #FOAvip English Wikipedia <ref>{{Cite pmid|10631135}}</ref> Duplication of 7p11 2-p13, including GRB10, in Silver-Russell syndrome #MMPMID10631135 Monk D; Wakeling EL; Proud V; Hitchins M; Abu-Amero SN; Stanier P; Preece MA; Moore GE Am J Hum Genet 2000[Jan]; 66 (1): 36-46 PMID10631135show ga Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth failure and other dysmorphic features. The syndrome is genetically heterogeneous, but maternal uniparental disomy of chromosome 7 has been demonstrated in approximately 7% of cases. This suggests that at least one gene on chromosome 7 is imprinted and involved in the pathogenesis of SRS. We have identified a de novo duplication of 7p11.2-p13 in a proband with features characteristic of SRS. FISH confirmed the presence of a tandem duplication encompassing the genes for growth factor receptor-binding protein 10 (GRB10) and insulin-like growth factor-binding proteins 1 and 3 (IGFBP1 and -3) but not that for epidermal growth factor-receptor (EGFR). Microsatellite markers showed that the duplication was of maternal origin. These findings provide the first evidence that SRS may result from overexpression of a maternally expressed imprinted gene, rather than from absent expression of a paternally expressed gene. GRB10 lies within the duplicated region and is a strong candidate, since it is a known growth suppressor. Furthermore, the mouse homologue (Grb10/Meg1) is reported to be maternally expressed and maps to the imprinted region of proximal mouse chromosome 11 that demonstrates prenatal growth failure when it is maternally disomic. We have demonstrated that the GRB10 genomic interval replicates asynchronously in human lymphocytes, suggestive of imprinting. An additional 36 SRS probands were investigated for duplication of GRB10, but none were found. However, it remains possible that GRB10 and/or other genes within 7p11.2-p13 are responsible for some cases of SRS. |*Gene Duplication[MESH] |*Genomic Imprinting[MESH] |Abnormalities, Multiple/*genetics[MESH] |Adolescent[MESH] |Adult[MESH] |Animals[MESH] |Blotting, Southern[MESH] |Cell Nucleus/metabolism[MESH] |Child[MESH] |Child, Preschool[MESH] |Chromosomes, Human, Pair 13[MESH] |Chromosomes, Human, Pair 7[MESH] |Female[MESH] |Fetal Growth Retardation/*genetics[MESH] |GRB10 Adaptor Protein[MESH] |Growth Disorders/*genetics[MESH] |Humans[MESH] |In Situ Hybridization, Fluorescence[MESH] |Infant[MESH] |Lymphocytes/metabolism/ultrastructure[MESH] |Microsatellite Repeats[MESH] |Proteins/*genetics/metabolism[MESH]Duplication of 7p11 2-p13, including GRB10, in Silver-Russell syndrome(epmc).pdf DeepDyve Pubget Overpricing