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https://www.readbyqxmd.com/read/28648202/a-review-on-autosomal-dominant-tubulointerstitial-kidney-disease
#1
Nadia Ayasreh Fierro, Rosa Miquel Rodríguez, Ana Matamala Gastón, Elisabet Ars Criach, Roser Torra Balcells
In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4genes causing autosomal dominant tubulointerstitial kidney disease have been described: MUC1, UMOD, HNF1B and REN. Although the mutation in each of them causes distinctive features in how they present, all have in common the progressive tubulointerstitial damage and renal fibrosis...
May 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28609449/development-of-next-generation-sequencing-panel-for-umod-and-association-with-kidney-disease
#2
Caitlin Bailie, Jill Kilner, Alexander P Maxwell, Amy Jayne McKnight
Chronic kidney disease (CKD) has a prevalence of approximately 10% in adult populations. CKD can progress to end-stage renal disease (ESRD) and this is usually fatal unless some form of renal replacement therapy (chronic dialysis or renal transplantation) is provided. There is an inherited predisposition to CKD with several genetic risk markers now identified. The UMOD gene has been associated with CKD of varying aetiologies. An AmpliSeq next generation sequencing panel was developed to facilitate comprehensive sequencing of the UMOD gene, covering exonic and regulatory regions...
2017: PloS One
https://www.readbyqxmd.com/read/28605509/a-novel-homozygous-umod-mutation-reveals-gene-dosage-effects-on-uromodulin-processing-and-urinary-excretion
#3
Noel Edwards, Eric Olinger, Jennifer Adam, Michael Kelly, Guglielmo Schiano, Simon A Ramsbottom, Richard Sandford, Olivier Devuyst, John A Sayer
Heterozygous mutations in UMOD encoding the urinary protein uromodulin are the most common genetic cause of autosomal dominant tubulointerstitial kidney disease (ADTKD). We describe the exceptional case of a patient from a consanguineous family carrying a novel homozygous UMOD mutation (p.C120Y) affecting a conserved cysteine residue within the EGF-like domain III of uromodulin. Comparison of heterozygote and homozygote mutation carriers revealed a gene dosage effect with unprecedented low levels of uromodulin and aberrant uromodulin fragments in the urine of the homozygote proband...
June 10, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28598953/uromodulin-associates-with-cardiorenal-function-in-patients-with-hypertension-and-cardiovascular-disease
#4
Engi A H Algharably, Juliane Bolbrinker, Susanne Lezius, Rona Reibis, Karl Wegscheider, Heinz Völler, Reinhold Kreutz
OBJECTIVE: Common genetic variants in the gene encoding uromodulin (UMOD) have been associated with renal function, blood pressure (BP) and hypertension. We investigated the associations between an important single nucleotide polymorphism (SNP) in UMOD, that is rs12917707-G>T, and estimated glomerular filtration rate (eGFR), BP and cardiac organ damage as determined by echocardiography in patients with arterial hypertension. METHODS: A cohort of 1218 treated high-risk patients (mean age 58...
June 8, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28437467/mutant-uromodulin-expression-leads-to-altered-homeostasis-of-the-endoplasmic-reticulum-and-activates-the-unfolded-protein-response
#5
Céline Schaeffer, Stefania Merella, Elena Pasqualetto, Dejan Lazarevic, Luca Rampoldi
Uromodulin is the most abundant urinary protein in physiological conditions. It is exclusively produced by renal epithelial cells lining the thick ascending limb of Henle's loop (TAL) and it plays key roles in kidney function and disease. Mutations in UMOD, the gene encoding uromodulin, cause autosomal dominant tubulointerstitial kidney disease uromodulin-related (ADTKD-UMOD), characterised by hyperuricemia, gout and progressive loss of renal function. While the primary effect of UMOD mutations, retention in the endoplasmic reticulum (ER), is well established, its downstream effects are still largely unknown...
2017: PloS One
https://www.readbyqxmd.com/read/28418009/effect-of-umod-genotype-on-long-term-graft-survival-after-kidney-transplantation-in-patients-treated-with-cyclosporine-based-therapy
#6
E Abdel-Hady Algharably, J Beige, R Kreutz, J Bolbrinker
The genetic rs12917707-G>T variant in uromodulin (UMOD) has been associated with renal function, chronic kidney disease and hypertension with the minor T-allele showing a protective effect. Hypertension and nephrotoxicity are adverse effects of chronic cyclosporine treatment. We tested whether UMOD rs12917707-T in donor kidneys associates with long-term graft survival in 393 Caucasian patients with stable graft function for more than 10 weeks after kidney transplantation treated with a cyclosporine-based maintenance therapy (mean graft survival 9 years)...
April 18, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28387813/whole-exome-sequencing-for-prenatal-diagnosis-of-fetuses-with-congenital-anomalies-of-the-kidney-and-urinary-tract
#7
Ting-Ying Lei, Fang Fu, Ru Li, Dan Wang, Rong-Yue Wang, Xiang-Yi Jing, Qiong Deng, Zhou-Zhou Li, Ze-Qun Liu, Xin Yang, Dong-Zhi Li, Can Liao
Background.: In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can be challenging. Here, we investigate the value of whole-exome sequencing (WES) in fetuses with CAKUT but normal findings upon karyotyping and chromosome microarray analysis. Methods.: WES was performed on DNA from the cord blood of 30 fetuses with unexplained CAKUT with/without other structural anomalies...
April 6, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28325753/a-mouse-model-for-inherited-renal-fibrosis-associated-with-endoplasmic-reticulum-stress
#8
Sian E Piret, Eric Olinger, Anita A C Reed, M Andrew Nesbit, Tertius A Hough, Liz Bentley, Olivier Devuyst, Roger D Cox, Rajesh V Thakker
Renal fibrosis is a common feature of renal failure resulting from multiple etiologies, including diabetic nephropathy, hypertension and inherited renal disorders. However, the mechanisms of renal fibrosis are incompletely understood and we therefore explored these by establishing a mouse model for a renal tubular disorder, referred to as autosomal dominant tubulointerstitial kidney disease (ADTKD) due to missense uromodulin (UMOD) mutations (ADTKD-UMOD). ADTKD-UMOD, which is associated with retention of mutant uromodulin in the endoplasmic reticulum (ER) of renal thick ascending limb cells, is characterized by hyperuricemia, interstitial fibrosis, inflammation and renal failure, and we used targeted homologous recombination to generate a knock-in mouse model with an ADTKD-causing missense cysteine to arginine uromodulin mutation (C125R)...
June 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28284384/autosomal-dominant-tubulointerstitial-kidney-disease
#9
REVIEW
Anthony J Bleyer, Kendrah Kidd, Martina Živná, Stanislav Kmoch
There are 3 major forms of autosomal dominant tubulointerstitial kidney disease (ADTKD): ADTKD due to UMOD mutations, MUC1 mutations, and mutations in the REN gene encoding renin. Lack of knowledge about these conditions contributes to frequent nondiagnosis, but with even limited knowledge, nephrologists can easily obtain a diagnosis and improve patient care. There are 3 cardinal features of these disorders: (1) the conditions are inherited in an autosomal dominant manner and should be considered whenever both a parent and child suffer from kidney disease; the presence of even more affected family members provides further support...
March 2017: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/28242751/serum-uromodulin-and-mortality-risk-in-patients-undergoing-coronary-angiography
#10
Graciela E Delgado, Marcus E Kleber, Hubert Scharnagl, Bernhard K Krämer, Winfried März, Jürgen E Scherberich
The mucoprotein uromodulin is the most abundant protein in mammalian urine and has important roles in ion transport, maintenance of water and electrolyte balance, and clearance of bacteria from the urinary tract. Low urinary uromodulin concentrations have been associated with increased mortality risk. However, measuring uromodulin in urine has several preanalytic drawbacks, and sensitive assays for the detection of uromodulin in blood have become available. In this study, we investigated the association of serum uromodulin concentration with cardiovascular biomarkers and mortality risk in a large cohort of patients referred for coronary angiography...
February 27, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28220896/mitochondrial-dysregulation-secondary-to-endoplasmic-reticulum-stress-in-autosomal-dominant-tubulointerstitial-kidney-disease-umod-adtkd-umod
#11
Elisabeth Kemter, Thomas Fröhlich, Georg J Arnold, Eckhard Wolf, Rüdiger Wanke
'Autosomal dominant tubulointerstitial kidney disease - UMOD' (ADTKD-UMOD) is caused by impaired maturation and secretion of mutant uromodulin (UMOD) in thick ascending limb of Henle loop (TAL) cells, resulting in endoplasmic reticulum (ER) stress and unfolded protein response (UPR). To gain insight into pathophysiology, we analysed proteome profiles of TAL-enriched outer renal medulla samples from ADTKD-UMOD and control mice by quantitative LC-MS/MS. In total, 212 differentially abundant proteins were identified...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28052878/high-frequency-of-variants-of-candidate-genes-in-black-africans-with-low-renin-resistant-hypertension
#12
Erika S Jones, J David Spence, Adam D Mcintyre, Justus Nondi, Kennedy Gogo, Adeseye Akintunde, Daniel G Hackam, Brian L Rayner
OBJECTIVES: Black subjects tend to retain salt and water, be more sensitive to aldosterone, and have suppression of plasma renin activity. Variants of the renal sodium channel (ENaC, SCNN1B) account for approximately 6% of resistant hypertension (RHT) in Blacks; other candidate genes may be important. METHODS: Six candidate genes associated with low renin-resistant hypertension were sequenced in Black Africans from clinics in Kenya and South Africa. CYP11B2 was sequenced if the aldosterone level was high (primary aldosteronism phenotype); SCNN1B, NEDD4L, GRK4, UMOD, and NPPA genes were sequenced if the aldosterone level was low (Liddle phenotype)...
May 1, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/27958261/serum-uromodulin-concentrations-correlate-with-glomerular-filtration-rate-in-patients-with-chronic-kidney-disease
#13
Danuta Fedak, Marek Kuźniewski, Andrzej Fugiel, Ewa Wieczorek-Surdacka, Bernadetta Przepiórkowska-Hoyer, Piotr Jasik, Przemysław Miarka, Paulina Dumnicka, Maria Kapusta, Bogdan Solnica, Władysław Sułowicz
INTRODUCTION Urinary uromodulin excretion has been associated with kidney diseases. However, serum uromodulin concentrations have not been extensively studied in patients with chronic kidney disease (CKD), and the results of published studies are inconsistent. OBJECTIVES The aims of the study were to evaluate serum uromodulin concentrations in patients with CKD and to assess the utility of serum uromodulin measurements for diagnosing CKD stages. PATIENTS AND METHODS This observational study included 170 patients with CKD stages 1 to 5, not treated by renal replacement therapy, and 30 healthy individuals...
December 5, 2016: Polskie Archiwum Medycyny Wewnętrznej
https://www.readbyqxmd.com/read/27938332/a-single-nucleotide-polymorphism-in-the-umod-promoter-is-associated-with-end-stage-renal-disease
#14
Tingyu Chen, Qianliao Wang, Guisen Li, Li Wang
BACKGROUND: Several genome-wide association studies revealed that several variants of UMOD gene were related to the estimated glomerular filtration rate (eGFR), CKD or hypertension. In this study, we investigated the association between a common variant rs13333226 in the promoter region of UMOD gene and end stage renal disease (ESRD). METHODS: Variant rs13333226 of UMOD gene was genotyped by using the ABI Real time TaqMan allelic discrimination assay in a case-control study including 638 unrelated patients with ESRD and 366 controls...
December 9, 2016: BMC Medical Genetics
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
#15
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
#16
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
#17
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...
November 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
#18
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
#19
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...
February 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/27711188/immunological-signatures-after-bordetella-pertussis-infection-demonstrate-importance-of-pulmonary-innate-immune-cells
#20
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
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