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.

10.1681/ASN.2014040388 http://scihub22266oqcxt.onion/10.1681/ASN.2014040388 C4341487!4341487!25296721     free     free     free Deprecated: Implicit conversion from float 233.6 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\25296721.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       J+Am+Soc+Nephrol 2015 ; 26 (3): 543-51 Nephropedia Template TP {{tp|p=25296721|t=2015. Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis |pdf=|usr=}}{{25296721}} gab.com Text Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis JO: J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=25296721 #FOAvip Nephrolithiasis is a prevalent condition with a high morbidity. Although dozens of monogenic causes have been identified, the fraction of single-gene disease has not been well studied. To determine the percentage of cases that can be molecularly explained by mutations in 1 of 30 known kidney stone genes, we conducted a high-throughput mutation analysis in a cohort of consecutively recruited patients from typical kidney stone clinics. The cohort comprised 272 genetically unresolved individuals (106 children and 166 adults) from 268 families with nephrolithiasis (n=256) or isolated nephrocalcinosis (n=16). We detected 50 likely causative mutations in 14 of 30 analyzed genes, leading to a molecular diagnosis in 14.9% (40 of 268) of all cases; 20 of 50 detected mutations were novel (40%). The cystinuria gene SLC7A9 (n=19) was most frequently mutated. The percentage of monogenic cases was notably high in both the adult (11.4%) and pediatric cohorts (20.8%). Recessive causes were more frequent among children, whereas dominant disease occurred more abundantly in adults. Our study provides an in-depth analysis of monogenic causes of kidney stone disease. We suggest that knowledge of the molecular cause of nephrolithiasis and nephrocalcinosis may have practical implications and might facilitate personalized treatment. Twit Text FOAVip Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis ????J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=25296721 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25296721 #FOAvip English Wikipedia <ref>{{Cite pmid|25296721}}</ref> Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis #MMPMID25296721 Halbritter J; Baum M; Hynes AM; Rice SJ; Thwaites DT; Gucev ZS; Fisher B; Spaneas L; Porath JD; Braun DA; Wassner AJ; Nelson CP; Tasic V; Sayer JA; Hildebrandt F J Am Soc Nephrol 2015[Mar]; 26 (3): 543-51 PMID25296721show ga Nephrolithiasis is a prevalent condition with a high morbidity. Although dozens of monogenic causes have been identified, the fraction of single-gene disease has not been well studied. To determine the percentage of cases that can be molecularly explained by mutations in 1 of 30 known kidney stone genes, we conducted a high-throughput mutation analysis in a cohort of consecutively recruited patients from typical kidney stone clinics. The cohort comprised 272 genetically unresolved individuals (106 children and 166 adults) from 268 families with nephrolithiasis (n=256) or isolated nephrocalcinosis (n=16). We detected 50 likely causative mutations in 14 of 30 analyzed genes, leading to a molecular diagnosis in 14.9% (40 of 268) of all cases; 20 of 50 detected mutations were novel (40%). The cystinuria gene SLC7A9 (n=19) was most frequently mutated. The percentage of monogenic cases was notably high in both the adult (11.4%) and pediatric cohorts (20.8%). Recessive causes were more frequent among children, whereas dominant disease occurred more abundantly in adults. Our study provides an in-depth analysis of monogenic causes of kidney stone disease. We suggest that knowledge of the molecular cause of nephrolithiasis and nephrocalcinosis may have practical implications and might facilitate personalized treatment. äFourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalc(epmc).pdf DeepDyve Pubget Overpricing