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10.1002/hep.28499 http://scihub22266oqcxt.onion/10.1002/hep.28499 C4874872!4874872!26874653     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 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       Hepatology 2016 ; 63 (6): 1977-86 Nephropedia Template TP {{tp|p=26874653|t=2016. Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension |pdf=|usr=}}{{26874653}} gab.com Text Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension JO: Hepatology http://www.kidney.de/pget.php?&tw=1&pmid=26874653 #FOAvip Despite advances in the diagnosis and management of idiopathic non-cirrhotic portal hypertension (INCPH), its pathogenesis remains elusive. Insight may be gained from study of early onset familial INCPH, in which Mendelian mutations may account for disease. We performed exome sequencing of 8 subjects from 6 kindreds with onset of portal hypertension of indeterminate etiology during infancy or childhood. Three subjects from two consanguineous families shared the identical rare homozygous p.N46S mutation in DGUOK, a deoxyguanosine kinase required for mitochondrial DNA replication; haplotype sharing demonstrated the mutation in the two families was inherited from a remote common ancestor. All three affected subjects had stable portal hypertension with non-cirrhotic liver disease for 6?16 years of follow-up. This mutation impairs ATP binding and reduces catalytic activity. Loss-of-function mutations in DGUOK have previously been implicated in cirrhosis and liver failure but not in isolated portal hypertension. Interestingly, treatment of patients with HIV infection with the nucleoside analog didanosine is known to cause portal hypertension in a subset of patients and lowers deoxyguanosine kinase levels in vitro; the current findings implicate these effects on deoxyguanosine kinase in the causal mechanism. CONCLUSION: Our findings provide new insight into the mechanisms mediating inherited and acquired non-cirrhotic portal hypertension, expand the phenotypic spectrum of DGUOK deficiency, and provide a new genetic test for a specific cause of INCPH. Twit Text FOAVip Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension ????Hepatology http://www.kidney.de/pget.php?&tw=1&pmid=26874653 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26874653 #FOAvip English Wikipedia <ref>{{Cite pmid|26874653}}</ref> Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension #MMPMID26874653 Vilarinho S; Sari S; Yilmaz G; Stiegler AL; Boggon TJ; Jain D; Akyol G; Dalgic B; Günel M; Lifton RP Hepatology 2016[Jun]; 63 (6): 1977-86 PMID26874653show ga Despite advances in the diagnosis and management of idiopathic non-cirrhotic portal hypertension (INCPH), its pathogenesis remains elusive. Insight may be gained from study of early onset familial INCPH, in which Mendelian mutations may account for disease. We performed exome sequencing of 8 subjects from 6 kindreds with onset of portal hypertension of indeterminate etiology during infancy or childhood. Three subjects from two consanguineous families shared the identical rare homozygous p.N46S mutation in DGUOK, a deoxyguanosine kinase required for mitochondrial DNA replication; haplotype sharing demonstrated the mutation in the two families was inherited from a remote common ancestor. All three affected subjects had stable portal hypertension with non-cirrhotic liver disease for 6?16 years of follow-up. This mutation impairs ATP binding and reduces catalytic activity. Loss-of-function mutations in DGUOK have previously been implicated in cirrhosis and liver failure but not in isolated portal hypertension. Interestingly, treatment of patients with HIV infection with the nucleoside analog didanosine is known to cause portal hypertension in a subset of patients and lowers deoxyguanosine kinase levels in vitro; the current findings implicate these effects on deoxyguanosine kinase in the causal mechanism. CONCLUSION: Our findings provide new insight into the mechanisms mediating inherited and acquired non-cirrhotic portal hypertension, expand the phenotypic spectrum of DGUOK deficiency, and provide a new genetic test for a specific cause of INCPH. äRecurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic (epmc).pdf DeepDyve Pubget Overpricing