Next generation sequencing search for uromodulin gene variants related with impaired renal function
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E. Coto | S. Tranche | B. Alonso | S. Iglesias | Juan Gómez | C. Díaz‐Corte | F. Álvarez
[1] F. Scolari,et al. Uromodulin: from monogenic to multifactorial diseases. , 2015, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[2] V. Álvarez,et al. Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. , 2014, Circulation journal : official journal of the Japanese Circulation Society.
[3] E. Coto,et al. Effect of the FTO rs9930506 Polymorphism on the Main Comorbidities of the Cardiorenal Metabolic Syndrome in an Elderly Spanish Cohort , 2014, Cardiorenal Medicine.
[4] A. Dominiczak,et al. Validation of Uromodulin as a Candidate Gene for Human Essential Hypertension , 2014, Hypertension.
[5] V. Álvarez,et al. Non Optical Semi-Conductor Next Generation Sequencing of the Main Cardiac QT-Interval Duration Genes in Pooled DNA Samples , 2014, Journal of Cardiovascular Translational Research.
[6] Matteo Trudu,et al. Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression , 2013, Nature Medicine.
[7] V. Álvarez,et al. Association between a MYH9 polymorphism (rs3752462) and renal function in the Spanish RENASTUR cohort. , 2013, Gene.
[8] E. Boerwinkle,et al. Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing , 2012, PloS one.
[9] Xue-Ru Wu,et al. Uromodulin in kidney injury: an instigator, bystander, or protector? , 2012, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[10] Sylvia Stracke,et al. Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function , 2012, PLoS genetics.
[11] K. Dahan,et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. , 2011, Clinical journal of the American Society of Nephrology : CJASN.
[12] Neil Powe,et al. Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD , 2011, PLoS genetics.
[13] P. Persson,et al. Activation of the Bumetanide-sensitive Na+,K+,2Cl− Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner* , 2011, The Journal of Biological Chemistry.
[14] S. Waldegger,et al. Tamm-Horsfall Glycoprotein Interacts with Renal Outer Medullary Potassium Channel ROMK2 and Regulates Its Function* , 2010, The Journal of Biological Chemistry.
[15] D. Gudbjartsson,et al. Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases , 2010, PLoS Genetics.
[16] J. Pell,et al. Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension , 2010, PLoS genetics.
[17] Daniel F. Gudbjartsson,et al. Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases , 2010, PLoS genetics.
[18] Uwe Völker,et al. New loci associated with kidney function and chronic kidney disease , 2010, Nature Genetics.
[19] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[20] Yurii S. Aulchenko,et al. Multiple loci associated with indices of renal function and chronic kidney disease , 2009, Nature Genetics.
[21] G. Casari,et al. Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly. , 2008, Molecular biology of the cell.
[22] F. Scolari,et al. Defective Intracellular Trafficking of Uromodulin Mutant Isoforms , 2006, Traffic.
[23] T C Hart,et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy , 2002, Journal of medical genetics.
[24] A. Levey,et al. A More Accurate Method To Estimate Glomerular Filtration Rate from Serum Creatinine: A New Prediction Equation , 1999, Annals of Internal Medicine.
[25] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.