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10.1681/ASN.2016040387 http://scihub22266oqcxt.onion/10.1681/ASN.2016040387 C5407720!5407720!27932480     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Am+Soc+Nephrol 2017 ; 28 (5): 1614-21 Nephropedia Template TP {{tp|p=27932480|t=2017. MAGI2 Mutations Cause Congenital Nephrotic Syndrome |pdf=|usr=}}{{27932480}} gab.com Text MAGI2 Mutations Cause Congenital Nephrotic Syndrome JO: J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=27932480 #FOAvip Steroid?resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ?30% of patients with hereditary cases and only 20% of patients with sporadic cases. The proteins encoded by these genes are expressed in podocytes, and malfunction of these proteins leads to a universal end point of podocyte injury, glomerular filtration barrier disruption, and SRNS. Here, we identified novel disease?causing mutations in membrane?associated guanylate kinase, WW, and PDZ domain?containing 2 (MAGI2) through whole-exome sequencing of a deeply phenotyped cohort of patients with congenital, childhood?onset SRNS. Although MAGI2 has been shown to interact with nephrin and regulate podocyte cytoskeleton and slit diaphragm dynamics, MAGI2 mutations have not been described in human SRNS. We detected two unique frameshift mutations and one duplication in three patients (two families); two siblings shared the same homozygous frameshift mutation, whereas one individual with sporadic SRNS exhibited compound heterozygosity. Two mutations were predicted to introduce premature stop codons, and one was predicted to result in read through of the normal translational termination codon. Immunohistochemistry in kidney sections from these patients revealed that mutations resulted in lack of or diminished podocyte MAGI2 expression. Our data support the finding that mutations in the MAGI2 gene are causal for congenital SRNS. Twit Text FOAVip MAGI2 Mutations Cause Congenital Nephrotic Syndrome ????J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=27932480 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27932480 #FOAvip English Wikipedia <ref>{{Cite pmid|27932480}}</ref> MAGI2 Mutations Cause Congenital Nephrotic Syndrome #MMPMID27932480 Bierzynska A; Soderquest K; Dean P; Colby E; Rollason R; Jones C; Inward CD; McCarthy HJ; Simpson MA; Lord GM; Williams M; Welsh GI; Koziell AB; Saleem MA; Bierzynska A; Soderquest K; Dean P; Colby E; Rollason R; Jones C; Inward CD; McCarthy HJ; Simpson MA; Lord GM; Williams M; Welsh GI; Koziell AB; Saleem MA J Am Soc Nephrol 2017[May]; 28 (5): 1614-21 PMID27932480show ga Steroid?resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ?30% of patients with hereditary cases and only 20% of patients with sporadic cases. The proteins encoded by these genes are expressed in podocytes, and malfunction of these proteins leads to a universal end point of podocyte injury, glomerular filtration barrier disruption, and SRNS. Here, we identified novel disease?causing mutations in membrane?associated guanylate kinase, WW, and PDZ domain?containing 2 (MAGI2) through whole-exome sequencing of a deeply phenotyped cohort of patients with congenital, childhood?onset SRNS. Although MAGI2 has been shown to interact with nephrin and regulate podocyte cytoskeleton and slit diaphragm dynamics, MAGI2 mutations have not been described in human SRNS. We detected two unique frameshift mutations and one duplication in three patients (two families); two siblings shared the same homozygous frameshift mutation, whereas one individual with sporadic SRNS exhibited compound heterozygosity. Two mutations were predicted to introduce premature stop codons, and one was predicted to result in read through of the normal translational termination codon. Immunohistochemistry in kidney sections from these patients revealed that mutations resulted in lack of or diminished podocyte MAGI2 expression. Our data support the finding that mutations in the MAGI2 gene are causal for congenital SRNS. äMAGI2 Mutations Cause Congenital Nephrotic Syndrome (epmc).pdf DeepDyve Pubget Overpricing