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.2012010097 http://scihub22266oqcxt.onion/10.1681/ASN.2012010097 23520208!3609130!23520208     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 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 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 2013 ; 24 (4): 550-8 Nephropedia Template TP {{tp|p=23520208|t=2013. Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling |pdf=|usr=}}{{23520208}} gab.com Text Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling JO: J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=23520208 #FOAvip Abnormal differentiation of the renal stem/progenitor pool into kidney tissue can lead to renal hypodysplasia (RHD), but the underlying causes of RHD are not well understood. In this multicenter study, we identified 20 Israeli pedigrees with isolated familial, nonsyndromic RHD and screened for mutations in candidate genes involved in kidney development, including PAX2, HNF1B, EYA1, SIX1, SIX2, SALL1, GDNF, WNT4, and WT1. In addition to previously reported RHD-causing genes, we found that two affected brothers were heterozygous for a missense variant in the WNT4 gene. Functional analysis of this variant revealed both antagonistic and agonistic canonical WNT stimuli, dependent on cell type. In HEK293 cells, WNT4 inhibited WNT3A induced canonical activation, and the WNT4 variant significantly enhanced this inhibition of the canonical WNT pathway. In contrast, in primary cultures of human fetal kidney cells, which maintain WNT activation and more closely represent WNT signaling in renal progenitors during nephrogenesis, this mutation caused significant loss of function, resulting in diminished canonical WNT/beta-catenin signaling. In conclusion, heterozygous WNT4 variants are likely to play a causative role in renal hypodysplasia. Twit Text FOAVip Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling ????J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=23520208 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23520208 #FOAvip English Wikipedia <ref>{{Cite pmid|23520208}}</ref> Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling #MMPMID23520208 Vivante A; Mark-Danieli M; Davidovits M; Harari-Steinberg O; Omer D; Gnatek Y; Cleper R; Landau D; Kovalski Y; Weissman I; Eisenstein I; Soudack M; Wolf HR; Issler N; Lotan D; Anikster Y; Dekel B J Am Soc Nephrol 2013[Mar]; 24 (4): 550-8 PMID23520208show ga Abnormal differentiation of the renal stem/progenitor pool into kidney tissue can lead to renal hypodysplasia (RHD), but the underlying causes of RHD are not well understood. In this multicenter study, we identified 20 Israeli pedigrees with isolated familial, nonsyndromic RHD and screened for mutations in candidate genes involved in kidney development, including PAX2, HNF1B, EYA1, SIX1, SIX2, SALL1, GDNF, WNT4, and WT1. In addition to previously reported RHD-causing genes, we found that two affected brothers were heterozygous for a missense variant in the WNT4 gene. Functional analysis of this variant revealed both antagonistic and agonistic canonical WNT stimuli, dependent on cell type. In HEK293 cells, WNT4 inhibited WNT3A induced canonical activation, and the WNT4 variant significantly enhanced this inhibition of the canonical WNT pathway. In contrast, in primary cultures of human fetal kidney cells, which maintain WNT activation and more closely represent WNT signaling in renal progenitors during nephrogenesis, this mutation caused significant loss of function, resulting in diminished canonical WNT/beta-catenin signaling. In conclusion, heterozygous WNT4 variants are likely to play a causative role in renal hypodysplasia. |Adolescent[MESH] |Cell Differentiation/*genetics[MESH] |Child[MESH] |Child, Preschool[MESH] |Female[MESH] |HEK293 Cells[MESH] |Humans[MESH] |Infant[MESH] |Israel[MESH] |Kidney Diseases/*genetics[MESH] |Male[MESH] |Mutation[MESH] |PAX2 Transcription Factor/genetics[MESH] |Sequence Analysis, DNA[MESH] |Wnt Signaling Pathway/*genetics[MESH] |Wnt4 Protein/*genetics[MESH]Renal hypodysplasia associates with a WNT4 variant that causes aberran(epmc).pdf DeepDyve Pubget Overpricing