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https://www.readbyqxmd.com/read/27897004/identifying-genetic-associations-with-variability-in-metabolic-health-and-blood-count-laboratory-values-diving-into-the-quantitative-traits-by-leveraging-longitudinal-data-from-an-ehr
#1
Shefali S Verma, Anastasia M Lucas, Daniel R Lavage, Joseph B Leader, Raghu Metpally, Sarathbabu Krishnamurthy, Frederick Dewey, Ingrid Borecki, Alexander Lopez, John Overton, John Penn, Jeffrey Reid, Sarah A Pendergrass, Gerda Breitwieser, Marylyn D Ritchie
A wide range of patient health data is recorded in Electronic Health Records (EHR). This data includes diagnosis, surgical procedures, clinical laboratory measurements, and medication information. Together this information reflects the patient's medical history. Many studies have efficiently used this data from the EHR to find associations that are clinically relevant, either by utilizing International Classification of Diseases, version 9 (ICD-9) codes or laboratory measurements, or by designing phenotype algorithms to extract case and control status with accuracy from the EHR...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27795632/a-novel-heterozygous-missense-mutation-in-uromodulin-gene-in-an-indian-family-with-familial-juvenile-hyperuricemic-nephropathy
#2
D Saxena, P Srivastava, S R Phadke
Familial juvenile hyperuricemic nephropathy (FJHN), characterized by early-onset hyperuricemia, reduced fractional excretion of uric acid, and chronic renal failure is caused due to mutation in uromodulin (UMOD) gene. We identified a novel mutation in a family with multiple members affected with FJHN. Ten coding exons of UMOD gene in three family members with clinical and biochemical features of FJHN and one unaffected family member were sequenced, and sequence variants were analyzed for the pathogenicity by bioinformatics studies...
September 2016: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/27764983/familial-juvenile-hyperuricemic-nephropathy-as-rare-cause-of-dialysis-dependent-chronic-kidney-disease-a-series-of-cases-in-two-families
#3
Kamila A Kaminska-Pajak, Katarzyna Dyga, Piotr Adamczyk, Maria Szczepańska, Marcin Zaniew, Bodo Beck, Marcin Tkaczyk
Hyperuricemia is a common symptom in adult population. It usually accompanies the chronic kidney disease. Less frequently, it is a primary phenomenon causing later serious clinical consequences. Familial juvenile hyperuricemic nephropathy (FJHN) is one of the hereditary conditions associated with high levels of serum uric acid and leading to dialysis in young adult age. It results from mutation in the UMOD gene, encoding the uromodulin protein, that is, Tamm-Horsfall protein. The aim of this paper was to present two families (7 affected members) with FJHN, in whom standard nephrological diagnostics did not provide clear cause of dialysis-dependent chronic kidney disease, until genetic testing was performed...
October 20, 2016: Renal Failure
https://www.readbyqxmd.com/read/27754025/yia-03-01-validation-of-genetic-determinants-of-unmet-needs-in-the-treatment-of-kidney-disease-in-type-2-diabetes
#4
Paul Simon, Aelna Krajčoviechová, Francois Harvey, Mousnif Haloui, Francois-Christophe Marois-Blanchet, John Chalmers, Mark Woodward, Michel Marre, Johanne Tremblay, Pavel Hamet
OBJECTIVE: We have previously reported the genetic determinants of unmet renal needs in Type 2 Diabetic (T2D) patients of the ADVANCE study (Abstract 0105-PD, IDF - World Diabetes Congress, Vancouver, 2015). We report here the external validation of several of these loci. An improved knowledge of the genetics linked to worsening diabetic nephropathy will offer insights on how to better manage this complication of diabetes and hypertension in T2D patients. DESIGN AND METHOD: We investigated 3,500 T2D patients of Caucasian origin included in the ADVANCE trial who were all treated with current standard therapies...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27729211/a-new-missense-mutation-in-umod-gene-leads-to-severely-reduced-serum-uromodulin-concentrations-a-tool-for-the-diagnosis-of-uromodulin-associated-kidney-disease
#5
Robin Satanovskij, Alhaddad Bader, Matthias Block, Victor Herbst, Wolfgang Schlumberger, Tobias Haack, Wolfgang Andreas Nockher, Uwe Heemann, Lutz Renders, Christoph Schmaderer, Susanne Angermann, Ming Wen, Thomas Meitinger, Jürgen Scherberich, Dominik Steubl
BACKGROUND: Uromodulin-associated Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-UMOD) belongs to a group of autosomal dominant inherited diseases caused by mutations in the UMOD gene, which codes for uromodulin, a protein exclusively expressed in renal tubular cells of the ascending limb of the loop of Henle. The diagnosis is hampered by non-specific clinical, laboratory and histological findings. In this study, we evaluated serum uromodulin as diagnostic marker for ADTKD-UMOD in a family with a novel mutation in UMOD...
October 10, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27711188/immunological-signatures-after-bordetella-pertussis-infection-demonstrate-importance-of-pulmonary-innate-immune-cells
#6
René H M Raeven, Jolanda Brummelman, Larissa van der Maas, Wichard Tilstra, Jeroen L A Pennings, Wanda G H Han, Cécile A C M van Els, Elly van Riet, Gideon F A Kersten, Bernard Metz
Effective immunity against Bordetella pertussis is currently under discussion following the stacking evidence of pertussis resurgence in the vaccinated population. Natural immunity is more effective than vaccine-induced immunity indicating that knowledge on infection-induced responses may contribute to improve vaccination strategies. We applied a systems biology approach comprising microarray, flow cytometry and multiplex immunoassays to unravel the molecular and cellular signatures in unprotected mice and protected mice with infection-induced immunity, around a B...
2016: PloS One
https://www.readbyqxmd.com/read/27699802/uromodulin-gene-variants-and-their-association-with-renal-function-and-blood-pressure-in-cats-a-pilot-study
#7
R E Jepson, H R Warren, H M Syme, J Elliott, P B Munroe
OBJECTIVES: In humans, genome-wide association studies have identified variants in the uromodulin gene (UMOD) associated with blood pressure and renal function. This study aimed to evaluate the association of single nucleotide polymorphisms at the UMOD locus with renal function and blood pressure in cats. METHODS: We retrospectively identified cats aged 14 years that had participated in a geriatric monitoring program, and from which stored DNA samples were available, from a computerised database...
November 2016: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/27642943/yia-03-01-validation-of-genetic-determinants-of-unmet-needs-in-the-treatment-of-kidney-disease-in-type-2-diabetes
#8
Paul Simon, Aelna Krajčoviechová, Francois Harvey, Mousnif Haloui, Francois-Christophe Marois-Blanchet, John Chalmers, Mark Woodward, Michel Marre, Johanne Tremblay, Pavel Hamet
OBJECTIVE: We have previously reported the genetic determinants of unmet renal needs in Type 2 Diabetic (T2D) patients of the ADVANCE study (Abstract 0105-PD, IDF - World Diabetes Congress, Vancouver, 2015). We report here the external validation of several of these loci. An improved knowledge of the genetics linked to worsening diabetic nephropathy will offer insights on how to better manage this complication of diabetes and hypertension in T2D patients. DESIGN AND METHOD: We investigated 3,500 T2D patients of Caucasian origin included in the ADVANCE trial who were all treated with current standard therapies...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27508833/-op-7c-01-uromodulin-nacl-interaction-on-mrna-expression-of-ion-transporters-in-isolated-tubules-of-umod-and-umod-mice
#9
L Graham, D Graham, M W McBride, A F Dominiczak, S Padmanabhan
OBJECTIVE: UMOD-/- mice have low blood pressure and decreased salt-sensitivity indicating interactions between UMOD and sodium transport in the TAL. However, it's unclear whether the effect of UMOD is solely through interaction with cognate molecules in the TAL or whether the perturbations in physiology are more complex with involvement of both TAL and other parts of the nephron. We propose to answer this by profiling mRNA expression levels of the main ion transporters and signalling molecules in tubules from UMOD+/+ and UMOD-/- mice...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27508723/-op-4d-04-metabolomic-study-of-the-effect-of-uromodulin-on-biochemical-pathways-in-the-kidneys
#10
L Graham, D Graham, M W McBride, A F Dominiczak, S Padmanabhan
OBJECTIVE: UMOD-/- mice have low blood pressure and decreased salt-sensitivity indicating interactions between UMOD and sodium transport. However, it's unclear whether the effect of UMOD is solely through interaction with cognate molecules in the TAL or whether the perturbations in physiology are more complex with involvement of the TAL and other parts of the nephron. We propose to answer this by metabolomic profiling of renal tissue from UMOD+/+ and UMOD-/- mice. DESIGN AND METHOD: UMOD+/+ and UMOD-/- male mice of 12 weeks of age were treated ± 2% NaCl ad libitum in the drinking water for 6 weeks (n = 5 per group)...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27508610/-op-2a-02-uromodulin-modulates-the-effect-of-salt-on-blood-pressure-in-the-general-population
#11
B Ponte, M Pruijm, I Guessous, D Ackermann, G Ehret, M Mohaupt, F Paccaud, B Vogt, P Y Martin, A Pechere-Berstschi, M Burnier, O Devuyst, M Bochud
OBJECTIVE: Genome wide association studies have shown that the gene encoding for uromodulin (UMOD) is associated with hypertension. Recently, animal studies have demonstrated that UMOD modulates NaCl reabsorption driven by NKCC2. We hypothesised that the NaCl effect on blood pressure may be modulated by UMOD levels in the general population. DESIGN AND METHOD: Urinary UMOD levels were measured in 994 participants of the SKIPOGH population-based study who completed 24 h blood pressure monitoring and 24 h urinary collection...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27489562/first-report-of-familial-juvenile-hyperuricemic-nephropathy-fjhn-in-iran-caused-by-a-novel-de-novo-mutation-e197x-in-umod
#12
Tahereh Malakoutian, Atefeh Amouzegar, Farzaneh Vali, Mojgan Asgari, Babak Behnam
Uromodulin (UMOD) gene mutation causes autosomal dominant Uromodulin-Associated Kidney Disease (UAKD), which in turn leads to end-stage renal disease. This is the first case report of a family with UAKD caused by a novel de novo mutation (E197X) in the UMOD gene. This case is a 28-year-old man with severely reduced kidney function [1]. No similar case was reported in his family history. This report highlights and reminds the importance of genetic screening in young patients involving kidney dysfunction, as the UAKD and some other kidney genetic diseases may be late-onset...
June 2016: Journal of Molecular and Genetic Medicine: An International Journal of Biomedical Research
https://www.readbyqxmd.com/read/27488999/renal-phenotype-in-bardet-biedl-syndrome-a-combined-defect-of-urinary-concentration-and-dilution-is-associated-with-defective-urinary-aqp2-and-umod-excretion
#13
Miriam Zacchia, Enza Zacchia, Enrica Zona, Giovanna Capolongo, Ilaria Raiola, Luca Rinaldi, Francesco Trepiccione, Diego Ingrosso, Alessandra Perna, Valentina Di Iorio, Francesca Simonelli, Orson W Moe, Giovambattista Capasso
The renal phenotype in Bardet-Biedl syndrome (BBS) is highly variable. The present study describes renal findings in 41 BBS patients and analyzes the pathogenesis of hyposthenuria, the most common renal dysfunction. Five of 41 patients (12%) showed an estimated glomerular filtration rate < 60 ml·min(-1)·1.73 m(-2) Urine protein and urine albumin-to-creatinine ratio were over 200 and 30 mg/g in 9/24 and 7/23 patients, respectively. Four of 41 patients showed no renal anomalies on ultrasound. Twenty of 34 patients had hyposthenuria in the absence of renal insufficiency...
October 1, 2016: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27461219/association-of-kidney-structure-related-gene-variants-with-type-2-diabetes-attributed-end-stage-kidney-disease-in-african-americans
#14
Meijian Guan, Jun Ma, Jacob M Keaton, Latchezar Dimitrov, Poorva Mudgal, Mary Stromberg, Jason A Bonomo, Pamela J Hicks, Barry I Freedman, Donald W Bowden, Maggie C Y Ng
African Americans (AAs) are at higher risk for developing end-stage kidney disease (ESKD) compared to European Americans. Genome-wide association studies have identified variants associated with diabetic and non-diabetic kidney diseases. Nephropathy loci, including SLC7A9, UMOD, and SHROOM3, have been implicated in the maintenance of normal glomerular and renal tubular structure and function. Herein, 47 genes important in podocyte, glomerular basement membrane, mesangial cell, mesangial matrix, renal tubular cell, and renal interstitium structure were examined for association with type 2 diabetes (T2D)-attributed ESKD in AAs...
November 2016: Human Genetics
https://www.readbyqxmd.com/read/27448670/the-rs12917707-polymorphism-at-the-umod-locus-and-glomerular-filtration-rate-in-individuals-with-type-2-diabetes-evidence-of-heterogeneity-across-two-different-european-populations
#15
Sabrina Prudente, Rosa Di Paola, Massimiliano Copetti, Daniela Lucchesi, Olga Lamacchia, Serena Pezzilli, Luana Mercuri, Federica Alberico, Laura Giusti, Monia Garofolo, Giuseppe Penno, Mauro Cignarelli, Salvatore De Cosmo, Vincenzo Trischitta
BACKGROUND: UMOD variability has been associated at a genome-wide level of statistical significance with glomerular filtration rate (GFR) in Swedish individuals with type 2 diabetes (T2D; n = 4888). Whether this finding is extensible also to diabetic patients from other populations deserves further study. Our aim was to investigate the relationship between UMOD variability and GFR in patients with T2D from Italy. METHODS: Genotyping of the single nucleotide polymorphism (SNP) rs12917707 at the UMOD locus has been carried out in 3087 individuals from four independent Italian cohorts of patients with T2D by TaqMan allele discrimination...
July 21, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/27392076/heterozygous-loss-of-function-sec61a1-mutations-cause-autosomal-dominant-tubulo-interstitial-and-glomerulocystic-kidney-disease-with-anemia
#16
Nikhita Ajit Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, Christine Van Hemelrijk, Dorien Schepers, Geert Vandeweyer, Alexander Hoischen, Jeroen R Huyghe, Ann Raes, Erve Matthys, Emiel Sys, Myriam Azou, Marie-Claire Gubler, Marleen Praet, Guy Van Camp, Kelsey McFadden, Igor Pediaditakis, Anna Přistoupilová, Kateřina Hodaňová, Petr Vyleťal, Hana Hartmannová, Viktor Stránecký, Helena Hůlková, Veronika Barešová, Ivana Jedličková, Jana Sovová, Aleš Hnízda, Kendrah Kidd, Anthony J Bleyer, Richard S Spong, Johan Vande Walle, Geert Mortier, Han Brunner, Lut Van Laer, Stanislav Kmoch, Nicholas Katsanis, Bart L Loeys
Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. Mutations in UMOD, MUC1, and REN are responsible for many, but not all, cases of ADTKD. We report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Ultrasound and kidney biopsy revealed small dysplastic kidneys with cysts and tubular atrophy with secondary glomerular sclerosis, respectively...
July 7, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27315129/role-of-umod-promoter-polymorphism-in-the-etiology-of-preeclampsia
#17
Ji-Peng Wan, Lei Li, Hong-Yan Li, Fei Wang, Xiao-Jing Zhang, Han Zhao, Chang-Zhong Li, Xie-Tong Wang, Zi-Jiang Chen
AIMS: To evaluate the association between preeclampsia (PE) and the single nucleotide polymorphism (SNP) rs13333226, located in the promoter region of the UMOD gene. METHODS: A total of 1248 pregnant Han Chinese women (716 controls and 532 patients with PE) were included in this study. Genotyping of the rs13333226 polymorphism was performed by real-time PCR using a TaqMan-minor groove binder (MGB) probe assay. RESULTS: No significant differences were detected in the allele (p = 0...
August 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27187191/development-and-characterization-of-a-pseudo-multiple-reaction-monitoring-method-for-the-quantification-of-human-uromodulin-in-urine
#18
Thomas G Hammond, Suzette Moes, Sonia Youhanna, Paul Jennings, Olivier Devuyst, Alex Odermatt, Paul Jenö
BACKGROUND: Uromodulin is the most abundant protein in healthy human urine. Recently it has been suggested as a specific biomarker of renal tubular damage. We have developed a novel pseudo multiple reaction monitoring (pseudo MRM) for the protein's quantification in human urine. RESULTS: Selection of two peptides allowed quantification of uromodulin in human urine. The pseudo MRM quantified uromodulin in healthy individuals between 21 and 1344 nM and in autosomal dominant tubulointerstitial kidney disease-UMOD patients between 2 and 25 nM...
June 2016: Bioanalysis
https://www.readbyqxmd.com/read/27036738/mucin-1-increases-renal-trpv5-activity-in-vitro-and-urinary-level-associates-with-calcium-nephrolithiasis-in-patients
#19
Mingzhu Nie, Manjot S Bal, Zhufeng Yang, Jie Liu, Carolina Rivera, Andrea Wenzel, Bodo B Beck, Khashayar Sakhaee, Denise K Marciano, Matthias T F Wolf
Hypercalciuria is a major risk factor for nephrolithiasis. We previously reported that Uromodulin (UMOD) protects against nephrolithiasis by upregulating the renal calcium channel TRPV5. This channel is crucial for calcium reabsorption in the distal convoluted tubule (DCT). Recently, mutations in the gene encoding Mucin-1 (MUC1) were found to cause autosomal dominant tubulointerstitial kidney disease, the same disease caused by UMOD mutations. Because of the similarities between UMOD and MUC1 regarding associated disease phenotype, protein structure, and function as a cellular barrier, we examined whether urinary MUC1 also enhances TRPV5 channel activity and protects against nephrolithiasis...
November 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27026350/genetics-evolving-risks-of-umod-variants
#20
Ellen F Carney
No abstract text is available yet for this article.
May 2016: Nature Reviews. Nephrology
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