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10.1159/000464143 http://scihub22266oqcxt.onion/10.1159/000464143 C5509495!5509495!28395282     free     free     free Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Horm+Res+Paediatr 2017 ; 87 (6): 412-22 Nephropedia Template TP {{tp|p=28395282|t=2017. Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies |pdf=|usr=}}{{28395282}} gab.com Text Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies JO: Horm Res Paediatr http://www.kidney.de/pget.php?&tw=1&pmid=28395282 #FOAvip Background: The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGFIR), a widely expressed, cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal growth restriction or overgrowth. Methods: Whole exome sequence (WES), chromosomal microarray and targeted IGF1R gene analyses were performed on three unrelated children who share features of SGA, short stature, and elevated serum IGF-I, but otherwise had clinical heterogeneity. FACS (fluorescence-activated cell sorting) analysis of cell surface IGF1R was performed on live primary cells derived from the patients. Results: Two novel IGF1R CNV and a heterozygous IGF1R nonsense variant were identified in the three patients. One CNV (4.492 Mb) was successfully called from WES, utilizing eXome-Hidden Markov Model (XHMM) analysis. FACS analysis of cell surface IGFIR on live primary cells derived from the patients demonstrated ~50% reduction in IGFIR availability associated with the haploinsufficiency state. Conclusion: In addition to conventional methods, IGF1R CNVs can be identified from WES data. FACS analysis of live primary cells is a promising method for efficiently evaluating and screening for IGFIR haploinsufficiency. Further investigations are necessary to delineate how comparable IGFIR availability lead to the wide spectrum of clinical phenotypes and variable responsiveness to rhGH therapy. Twit Text FOAVip Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies ????Horm Res Paediatr http://www.kidney.de/pget.php?&tw=1&pmid=28395282 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28395282 #FOAvip English Wikipedia <ref>{{Cite pmid|28395282}}</ref> Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies #MMPMID28395282 Ocaranza P; Golekoh MC; Andrew SF; Guo MH; Kaplowitz P; Saal H; Rosenfeld RG; Dauber A; Cassorla F; Backeljauw PF; Hwa V Horm Res Paediatr 2017[]; 87 (6): 412-22 PMID28395282show ga Background: The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGFIR), a widely expressed, cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal growth restriction or overgrowth. Methods: Whole exome sequence (WES), chromosomal microarray and targeted IGF1R gene analyses were performed on three unrelated children who share features of SGA, short stature, and elevated serum IGF-I, but otherwise had clinical heterogeneity. FACS (fluorescence-activated cell sorting) analysis of cell surface IGF1R was performed on live primary cells derived from the patients. Results: Two novel IGF1R CNV and a heterozygous IGF1R nonsense variant were identified in the three patients. One CNV (4.492 Mb) was successfully called from WES, utilizing eXome-Hidden Markov Model (XHMM) analysis. FACS analysis of cell surface IGFIR on live primary cells derived from the patients demonstrated ~50% reduction in IGFIR availability associated with the haploinsufficiency state. Conclusion: In addition to conventional methods, IGF1R CNVs can be identified from WES data. FACS analysis of live primary cells is a promising method for efficiently evaluating and screening for IGFIR haploinsufficiency. Further investigations are necessary to delineate how comparable IGFIR availability lead to the wide spectrum of clinical phenotypes and variable responsiveness to rhGH therapy. äExpanding Genetic and Functional Diagnoses of IGF1R Haploinsufficienci(epmc).pdf DeepDyve Pubget Overpricing