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10.4274/jcrpe.3248 http://scihub22266oqcxt.onion/10.4274/jcrpe.3248 C5096466!5096466!27086651     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 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Clin+Res+Pediatr+Endocrinol 2016 ; 8 (2): 125-34 Nephropedia Template TP {{tp|p=27086651|t=2016. Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1 |pdf=|usr=}}{{27086651}} gab.com Text Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1 JO: J Clin Res Pediatr Endocrinol http://www.kidney.de/pget.php?&tw=1&pmid=27086651 #FOAvip Objective: What initiates the pubertal process in humans and other mammals is still unknown. We hypothesized that gene(s) taking roles in triggering human puberty may be identified by studying a cohort of idiopathic hypogonadotropic hypogonadism (IHH).Methods: A cohort of IHH cases was studied based on autozygosity mapping coupled with whole exome sequencing.Results: Our studies revealed three independent families in which IHH/delayed puberty is associated with inactivating SRA1 variants. SRA1 was the first gene to be identified to function through its protein as well as noncoding functional ribonucleic acid products. These products act as co-regulators of nuclear receptors including sex steroid receptors as well as SF-1 and LRH-1, the master regulators of steroidogenesis. Functional studies with a mutant SRA1 construct showed a reduced co-activation of ligand-dependent activity of the estrogen receptor alpha, as assessed by luciferase reporter assay in HeLa cells.Conclusion: Our findings strongly suggest that SRA1 gene function is required for initiation of puberty in humans. Furthermore, SRA1 with its alternative products and functionality may provide a potential explanation for the versatility and complexity of the pubertal process. Twit Text FOAVip Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1 ????J Clin Res Pediatr Endocrinol http://www.kidney.de/pget.php?&tw=1&pmid=27086651 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27086651 #FOAvip English Wikipedia <ref>{{Cite pmid|27086651}}</ref> Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1 #MMPMID27086651 Kotan LD; Cooper C; Darcan ?; Carr IM; Özen S; Yan Y; Hamedani MK; Gürbüz F; Mengen E; Turan ?; Ulubay A; Akku? G; Yüksel B; Topalo?lu AK; Leygue E J Clin Res Pediatr Endocrinol 2016[Jun]; 8 (2): 125-34 PMID27086651show ga Objective: What initiates the pubertal process in humans and other mammals is still unknown. We hypothesized that gene(s) taking roles in triggering human puberty may be identified by studying a cohort of idiopathic hypogonadotropic hypogonadism (IHH).Methods: A cohort of IHH cases was studied based on autozygosity mapping coupled with whole exome sequencing.Results: Our studies revealed three independent families in which IHH/delayed puberty is associated with inactivating SRA1 variants. SRA1 was the first gene to be identified to function through its protein as well as noncoding functional ribonucleic acid products. These products act as co-regulators of nuclear receptors including sex steroid receptors as well as SF-1 and LRH-1, the master regulators of steroidogenesis. Functional studies with a mutant SRA1 construct showed a reduced co-activation of ligand-dependent activity of the estrogen receptor alpha, as assessed by luciferase reporter assay in HeLa cells.Conclusion: Our findings strongly suggest that SRA1 gene function is required for initiation of puberty in humans. Furthermore, SRA1 with its alternative products and functionality may provide a potential explanation for the versatility and complexity of the pubertal process. äIdiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutati(epmc).pdf DeepDyve Pubget Overpricing