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Genetic kidney disease

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https://www.readbyqxmd.com/read/28220029/a-novel-inhibitor-of-homeodomain-interacting-protein-kinase-2-mitigates-kidney-fibrosis-through-inhibition-of-the-tgf-%C3%AE-1-smad3-pathway
#1
Ruijie Liu, Bhaskar Das, Wenzhen Xiao, Zhengzhe Li, Huilin Li, Kyung Lee, John Cijiang He
Homeodomain interacting protein kinase 2 (HIPK2) is a critical regulator of multiple profibrotic pathways, including that of TGF-β1/Smad3. Genetic ablation of HIPK2 was shown previously to significantly reduce renal fibrosis in the experimental unilateral ureteral obstruction model and Tg26 mice, a model of HIV-associated nephropathy. To develop specific pharmacologic inhibitors of HIPK2 for antifibrotic therapy, we designed and synthesized small molecule inhibitor compounds on the basis of the predicted structure of HIPK2...
February 20, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28219980/activation-of-neuronal-endothelin-b-receptors-mediates-pressor-response-through-alpha-1-adrenergic-receptors
#2
Bryan K Becker, Joshua S Speed, Mackenzie Powell, David M Pollock
Abnormalities in activity of the endothelin (ET) system have been widely reported in a number of cardiovascular disease states such as hypertension and heart failure. Although the vascular responses to ET are well established, the interaction between ET and other important modulators of blood pressure, such as the sympathetic nervous system, are less understood. Previous reports implicate ET signaling through ET type B (ETB) receptors in increasing neuronal activity. Therefore, we hypothesized that activation of ETB receptors on sympathetic nerves would increase blood pressure through an adrenergic-mediated mechanism...
February 2017: Physiological Reports
https://www.readbyqxmd.com/read/28218918/transgenic-expression-of-human-apol1-risk-variants-in-podocytes-induces-kidney-disease-in-mice
#3
Pazit Beckerman, Jing Bi-Karchin, Ae Seo Deok Park, Chengxiang Qiu, Patrick D Dummer, Irfana Soomro, Carine M Boustany-Kari, Steven S Pullen, Jeffrey H Miner, Chien-An A Hu, Tibor Rohacs, Kazunori Inoue, Shuta Ishibe, Moin A Saleem, Matthew B Palmer, Ana Maria Cuervo, Jeffrey B Kopp, Katalin Susztak
African Americans have a heightened risk of developing chronic and end-stage kidney disease, an association that is largely attributed to two common genetic variants, termed G1 and G2, in the APOL1 gene. Direct evidence demonstrating that these APOL1 risk alleles are pathogenic is still lacking because the APOL1 gene is present in only some primates and humans; thus it has been challenging to demonstrate experimental proof of causality of these risk alleles for renal disease. Here we generated mice with podocyte-specific inducible expression of the APOL1 reference allele (termed G0) or each of the risk-conferring alleles (G1 or G2)...
February 20, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28217701/gut-microbiota-and-oxalate-homeostasis
#4
Marguerite Hatch
This perspective focuses on how the gut microbiota can impact urinary oxalate excretion in the context of hyperoxaluria, a major risk factor in kidney stone disease. In the genetic disease of Primary Hyperoxaluria Type 1 (PH1), an increased endogenous production of oxalate, due to a deficiency of the liver enzyme alanine-glyoxylate aminotransferase (AGT), results in hyperoxaluria and oxalate kidney stones. The constant elevation in urinary oxalate in PH1 patients ultimately leads to tissue deposition of oxalate, renal failure and death and the only known cure for PH1 is a liver or liver-kidney transplant...
January 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28212922/organ-specific-biomarkers-in-lupus
#5
REVIEW
Haijing Wu, Jinrong Zeng, Ming Zhao, Qianjin Lu
Systemic lupus erythematosus (SLE) is a complex and highly heterogeneous disease, which affects multiple organs, including joints, skin, kidneys, heart, hematopoietic system, and nerve system. While the etiopathogenesis of SLE still remains unclear, genetic susceptibilities and aberrant epigenetic modifications are believed to be involved. For precision therapy, it is necessary to assess accurately and objectively organ involvements and disease activity, which is difficult by current clinical laboratory tests...
February 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28212759/psoriasis-and-comorbid-diseases-epidemiology
#6
REVIEW
Junko Takeshita, Sungat Grewal, Sinéad M Langan, Nehal N Mehta, Alexis Ogdie, Abby S Van Voorhees, Joel M Gelfand
Psoriasis is a common chronic inflammatory disease of the skin that is increasingly being recognized as a systemic inflammatory disorder. Psoriatic arthritis is a well-known comorbidity of psoriasis. A rapidly expanding body of literature in various populations and settings supports additional associations between psoriasis and cardiometabolic diseases, gastrointestinal diseases, kidney disease, malignancy, infection, and mood disorders. The pathogenesis of comorbid disease in patients with psoriasis remains unknown; however, shared inflammatory pathways, cellular mediators, genetic susceptibility, and common risk factors are hypothesized to be contributing elements...
March 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28212442/ecto-5-nucleotidase-cd73-nt5e-vitamin-d-receptor-and-fgf23-gene-polymorphisms-may-play-a-role-in-the-development-of-calcific-uremic-arteriolopathy-in-dialysis-patients-data-from-the-german-calciphylaxis-registry
#7
Hansjörg Rothe, Vincent Brandenburg, Margot Haun, Barbara Kollerits, Florian Kronenberg, Markus Ketteler, Christoph Wanner
INTRODUCTION: Calciphylaxis/calcific uremic arteriolopathy affects mainly end-stage kidney disease patients but is also associated with malignant disorders such as myeloma, melanoma and breast cancer. Genetic risk factors of calciphylaxis have never been studied before. METHODS: We investigated 10 target genes using a tagging SNP approach: the genes encoding CD73/ ecto-5'-nucleotidase (purinergic pathway), Matrix Gla protein, Fetuin A, Bone Gla protein, VKORC1 (all related to intrinsic calcification inhibition), calcium-sensing receptor, FGF23, Klotho, vitamin D receptor, stanniocalcin 1 (all related to CKD-MBD)...
2017: PloS One
https://www.readbyqxmd.com/read/28209808/galactosylation-of-iga1-is-associated-with-common-variation-in-c1galt1
#8
Daniel P Gale, Karen Molyneux, David Wimbury, Patricia Higgins, Adam P Levine, Ben Caplin, Anna Ferlin, Peiran Yin, Christopher P Nelson, Horia Stanescu, Nilesh J Samani, Robert Kleta, Xueqing Yu, Jonathan Barratt
IgA nephropathy (IgAN), an important cause of kidney failure, is characterized by glomerular IgA deposition and is associated with changes in O-glycosylation of the IgA1 molecule. Here, we sought to identify genetic factors contributing to levels of galactose-deficient IgA1 (Gd-IgA1) in white and Chinese populations. Gd-IgA1 levels were elevated in IgAN patients compared with ethnically matched healthy subjects and correlated with evidence of disease progression. White patients with IgAN exhibited significantly higher Gd-IgA1 levels than did Chinese patients...
February 16, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28208602/a-review-of-the-strain-diversity-and-pathogenesis-of-chicken-astrovirus
#9
REVIEW
Victoria J Smyth
Although a relatively recently emerged virus, identified only in 2004 as a separate species of avian astrovirus, chicken astrovirus (CAstV) has been associated with poor growth of broiler flocks, enteritis and diarrhea and is a candidate pathogen in cases of runting stunting syndrome. More recently CAstV has been implicated in cases of two other diseases of broilers as the sole etiological agent, namely severe kidney disease of young broilers with visceral gout and the "White Chicks" hatchery disease. Examination of the strains of CAstV associated with the two latter diseases reveals they are closely related genetically...
February 10, 2017: Viruses
https://www.readbyqxmd.com/read/28205547/microrna-17-family-promotes-polycystic-kidney-disease-progression-through-modulation-of-mitochondrial-metabolism
#10
Sachin Hajarnis, Ronak Lakhia, Matanel Yheskel, Darren Williams, Mehran Sorourian, Xueqing Liu, Karam Aboudehen, Shanrong Zhang, Kara Kersjes, Ryan Galasso, Jian Li, Vivek Kaimal, Steven Lockton, Scott Davis, Andrea Flaten, Joshua A Johnson, William L Holland, Christine M Kusminski, Philipp E Scherer, Peter C Harris, Marie Trudel, Darren P Wallace, Peter Igarashi, Edmund C Lee, John R Androsavich, Vishal Patel
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent genetic cause of renal failure. Here we identify miR-17 as a target for the treatment of ADPKD. We report that miR-17 is induced in kidney cysts of mouse and human ADPKD. Genetic deletion of the miR-17∼92 cluster inhibits cyst proliferation and PKD progression in four orthologous, including two long-lived, mouse models of ADPKD. Anti-miR-17 treatment attenuates cyst growth in short-term and long-term PKD mouse models. miR-17 inhibition also suppresses proliferation and cyst growth of primary ADPKD cysts cultures derived from multiple human donors...
February 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/28205354/mini-review-a-unique-case-of-crescentic-c3-glomerulonephritis
#11
Dharmenaan Palamuthusingam, Murty Mantha, Kimberley Oliver, Ketan Bavishi, Shyam Dheda
Kidney involvement is an under-recognized complication of non-Hodgkin lymphomas. They occur in a variety of mechanisms and differ widely in their clinical presentation. We take this opportunity to report a case of a 65 year-old man who developed a rapidly progressive glomerulonephritis within days after completing his first cycle of R-CHOP (Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, Prednisolone) chemotherapy for newly diagnosed mantle cell lymphoma. He was odematous, hypertensive, oliguric with nephrotic range proteinuria and an active urine sediment...
March 2017: Nephrology
https://www.readbyqxmd.com/read/28201848/new-advances-in-polycystic-liver-diseases
#12
A Santos-Laso, L Izquierdo-Sánchez, P Y Lee-Law, M J Perugorria, M Marzioni, J J G Marin, L Bujanda, J M Banales
Polycystic liver diseases (PLDs) include a heterogeneous group of congenital disorders inherited as dominant or recessive genetic traits; they are manifested alone or in association with polycystic kidney disease. Ductal plate malformation during embryogenesis and the loss of heterozygosity linked to second-hit mutations may promote the dilatation and/or development of a large number (> 20) of biliary cysts, which are the main cause of morbidity in these patients. Surgical procedures aimed to eliminate symptomatic cysts show short-term beneficial effects, but are not able to block the disease progression...
February 2017: Seminars in Liver Disease
https://www.readbyqxmd.com/read/28201750/genetic-epidemiology-in-kidney-disease
#13
Hannah C Ainsworth, Carl D Langefeld, Barry I Freedman
No abstract text is available yet for this article.
February 11, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28198671/transcriptome-analysis-reveals-dynamic-changes-in-coxsackievirus-a16-infected-hek-293t-cells
#14
Jun Jin, Rujiao Li, Chunlai Jiang, Ruosi Zhang, Xiaomeng Ge, Fang Liang, Xin Sheng, Wenwen Dai, Meili Chen, Jiayan Wu, Jingfa Xiao, Weiheng Su
BACKGROUND: Coxsackievirus A16 (CVA16) and enterovirus 71 (EV71) are two of the major causes of hand, foot and mouth disease (HFMD) world-wide. Although many studies have focused on infection and pathogenic mechanisms, the transcriptome profile of the host cell upon CVA16 infection is still largely unknown. RESULTS: In this study, we compared the mRNA and miRNA expression profiles of human embryonic kidney 293T cells infected and non-infected with CVA16. We highlighted that the transcription of SCARB2, a cellular receptor for both CVA16 and EV71, was up-regulated by nearly 10-fold in infected cells compared to non-infected cells...
January 25, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28187980/patients-with-hypertension-associated-thrombotic%C3%A2-microangiopathy-may-present-with%C3%A2-complement-abnormalities
#15
Sjoerd A M E G Timmermans, Myrurgia A Abdul-Hamid, Joris Vanderlocht, Jan G M C Damoiseaux, Chris P Reutelingsperger, Pieter van Paassen
Thrombotic microangiopathy (TMA) is a pattern of endothelial damage that can be found in association with diverse clinical conditions such as malignant hypertension. Although the pathophysiological mechanisms differ, accumulating evidence links complement dysregulation to various TMA syndromes and in particular the atypical hemolytic uremic syndrome. Here, we evaluated the role of complement in nine consecutive patients with biopsy-proven renal TMA attributed to severe hypertension. Profound hematologic symptoms of TMA were uncommon...
February 7, 2017: Kidney International
https://www.readbyqxmd.com/read/28187045/apolipoprotein-l1-and-chronic-kidney-disease-risk-in-young-potential-living-kidney-donors
#16
Jayme E Locke, Deirdre Sawinski, Rhiannon D Reed, Brittany Shelton, Paul A MacLennan, Vineeta Kumar, Shikha Mehta, Roslyn B Mannon, Robert Gaston, Bruce A Julian, John J Carr, James G Terry, Meredith Kilgore, Allan B Massie, Dorry L Segev, Cora E Lewis
OBJECTIVE: The aim of this study was to develop a novel chronic kidney disease (CKD) risk prediction tool for young potential living kidney donors. SUMMARY OF BACKGROUND DATA: Living kidney donor selection practices have evolved from examining individual risk factors to a risk calculator incorporating multiple characteristics. Owing to limited long-term data and lack of genetic information, current risk tools lack precision among young potential living kidney donors, particularly African Americans (AAs)...
February 9, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28186573/genetic-risk-variants-for-membranous-nephropathy-extension-of-and-association-with-other-chronic-kidney-disease-aetiologies
#17
Peggy Sekula, Yong Li, Horia C Stanescu, Matthias Wuttke, Arif B Ekici, Detlef Bockenhauer, Gerd Walz, Stephen H Powis, Jan T Kielstein, Paul Brenchley, Kai-Uwe Eckardt, Florian Kronenberg, Robert Kleta, Anna Köttgen
No abstract text is available yet for this article.
February 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28180024/ciliopathies-genetics-in-pediatric-medicine
#18
REVIEW
Machteld M Oud, Ideke J C Lamers, Heleen H Arts
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28178560/designing-%C3%AE-cells
#19
Matthias Hebrok
Diabetes is a growing epidemic, and many patients depend on insulin injections to control the disease and minimize long-term complications. In a recent manuscript published in Science, Xie et al. (2016) generate insulin-producing cells from a somatic embryonic kidney cell line through minimal genetic modification capable of regulating glucose levels in diabetic mice.
February 7, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28176476/recurrent-atypical-haemolytic-uraemic-syndrome-post-kidney-transplant-due-to-a-cd46-mutation-in-the-setting-of-smarcal1-mediated-inherited-kidney-disease
#20
REVIEW
Samuel Chan, Andrew J Mallett, Chirag Patel, Ross S Francis, David W Johnson, David W Mudge, Nicole M Isbel
Disorders in the regulation of the alternate complement pathway often result in complement-mediated damage to the microvascular endothelium and can be associated with both glomerulonephritis and atypical haemolytic uraemic syndrome. Inherited defects in complement regulatory genes or autoantibodies against complement regulatory proteins are predictive of the severity of the disease and the risk of recurrence post kidney transplantation. Heterozygous mutations in CD46, which codes for a transmembrane cofactor glycoprotein membrane cofactor protein, usually have a lower incidence of end-stage kidney disease and decreased risk of recurrent disease post transplant, as wild-type membrane cofactor protein is present in the transplanted kidney...
February 2017: Nephrology
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