Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1159/000464143 http://scihub22266oqcxt.onion/10.1159/000464143 C5509495!5509495 !28395282     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28395282 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Horm+Res+Paediatr 2017 ; 87 (6 ): 412-422 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 (IGF1R), 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 3 unrelated children who share features of small for gestational age, short stature, and elevated serum IGF-I, but otherwise had clinical heterogeneity. Fluorescence-activated cell sorting (FACS) 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 3 patients. One CNV (4.492 Mb) was successfully called from WES, utilizing eXome-Hidden Markov Model (XHMM) analysis. FACS analysis of cell-surface IGF1R on live primary cells derived from the patients demonstrated a ?50% reduction in IGF1R availability associated with the haploinsufficiency state. CONCLUSION: In addition to conventional methods, IGF1R CNV can be identified from WES data. FACS analysis of live primary cells is a promising method for efficiently evaluating and screening for IGF1R haploinsufficiency. Further investigations are necessary to delineate how comparable IGF1R availability leads 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 ): 412-422 PMID28395282 show ga BACKGROUND: The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), 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 3 unrelated children who share features of small for gestational age, short stature, and elevated serum IGF-I, but otherwise had clinical heterogeneity. Fluorescence-activated cell sorting (FACS) 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 3 patients. One CNV (4.492 Mb) was successfully called from WES, utilizing eXome-Hidden Markov Model (XHMM) analysis. FACS analysis of cell-surface IGF1R on live primary cells derived from the patients demonstrated a ?50% reduction in IGF1R availability associated with the haploinsufficiency state. CONCLUSION: In addition to conventional methods, IGF1R CNV can be identified from WES data. FACS analysis of live primary cells is a promising method for efficiently evaluating and screening for IGF1R haploinsufficiency. Further investigations are necessary to delineate how comparable IGF1R availability leads to the wide spectrum of clinical phenotypes and variable responsiveness to rhGH therapy. |*Haploinsufficiency [MESH] |Child [MESH] |Exome [MESH] |Female [MESH] |Growth Disorders/diagnosis/*genetics [MESH] |Humans [MESH] |Receptor, IGF Type 1 [MESH]Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficienci(epmc).pdf DeepDyve Pubget Overpricing