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Genetic kidney disease

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https://www.readbyqxmd.com/read/29332336/downregulation-of-guanine-nucleotide-binding-protein-beta-1-gnb1-is-associated-with-worsened-prognosis-of-clearcell-renal-cell-carcinoma-and-is-related-to-vegf-signaling-pathway
#1
C Chen, H Chi, L Min, Z Junhua
PURPOSE: Clear-cell renal cell carcinoma (ccRCC) is characterized by genetic abnormalities, while the role of Guanine Nucleotide-Binding Protein Beta 1 (GNB1) in ccRCC has not been studied. We thus aimed to evaluate the expression and prognostic value of GNB1 in ccRCC. METHODS: A two-stage study (exploration and validation) was conducted using in silico and immunohistochemical (IHC) scoring of ccRCC samples from our institute, to evaluate the association between GNB1 expression and clinicopathological parameters of ccRCC patients...
November 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29330844/bradykinin-mediates-the-association-of-collecting-duct-cells-to-form-migratory-colonies-through-b2-receptor-activation
#2
Edith Del Valle Guaytima, Yamila Romina Brandán, Nicolás Octavio Favale, Bruno Jaime Santacreu, Norma B Sterin-Speziale, María Gabriela Márquez
It is known that bradykinin (BK) B2 receptor (B2R) is expressed in the collecting duct (CD) cells of the newborn rat kidney, but little is known about its role during early postnatal life. Therefore, we hypothesize that BK could participate in the mechanisms that mediate CD formation during the postnatal renal development. Performing primary cultures, combined with biochemical, immunocytochemical, and time-lapse analysis, we studied the role of BK in CD cell behaviour isolated from renal papilla of neonatal rats...
January 13, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29330785/genetic-knockdown-and-pharmacologic-inhibition-of-hypoxia-inducible-factor-hif-hydroxylases
#3
Christina Pickel, Cormac T Taylor, Carsten C Scholz
Reduced oxygen supply that does not satisfy tissue and cellular demand (hypoxia) regularly occurs both in health and disease. Hence, the capacity for cellular oxygen sensing is of vital importance for each cell to be able to alter its energy metabolism and promote adaptation to hypoxia. The hypoxia-inducible factor (HIF) prolyl hydroxylases 1-3 (PHD1-3) and the asparagine hydroxylase factor-inhibiting HIF (FIH) are the primary cellular oxygen sensors, which confer cellular oxygen-dependent sensitivity upon HIF as well as other hypoxia-sensitive pathways, such as nuclear factor κB (NF-κB)...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29329546/whole-genome-sequencing-of-genotype-vi-newcastle-disease-viruses-from-formalin-fixed-paraffin-embedded-tissues-from-wild-pigeons-reveals-continuous-evolution-and-previously-unrecognized-genetic-diversity-in-the-u-s
#4
Ying He, Tonya L Taylor, Kiril M Dimitrov, Salman L Butt, James B Stanton, Iryna V Goraichuk, Heather Fenton, Rebecca Poulson, Jian Zhang, Corrie C Brown, Hon S Ip, Marcos Isidoro-Ayza, Claudio L Afonso
BACKGROUND: Newcastle disease viruses (NDV) are highly contagious and cause disease in both wild birds and poultry. A pigeon-adapted variant of genotype VI NDV, often termed pigeon paramyxovirus 1, is commonly isolated from columbids in the United States and worldwide. Complete genomic characterization of these genotype VI viruses circulating in wild columbids in the United States is limited, and due to the genetic variability of the virus, failure of rapid diagnostic detection has been reported...
January 12, 2018: Virology Journal
https://www.readbyqxmd.com/read/29329488/genetic-and-molecular-insights-into-genotype-phenotype-relationships-in-osteopathia-striata-with-cranial-sclerosis-oscs-through-the-analysis-of-novel-mouse-wtx-mutant-alleles
#5
Glenda Comai, Agnès Boutet, Kristina Tanneberger, Filippo Massa, Ana-Sofia Rocha, Aurelie Charlet, Clara Panzolini, Fariba Jian Motamedi, Robert Brommage, Wolfgang Hans, Thomas Funck-Brentano, Martin Hrabe de Angelis, Christine Hartmann, Martine Cohen-Solal, Jürgen Behrens, Andreas Schedl
The X-linked WTX/AMER1 protein forms an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signalling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumour. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a condition usually associated with fetal or perinatal lethality in male patients. Here we addressed the developmental and molecular function of WTX by generating two novel mouse alleles...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29328364/genetically%C3%A2-modified-stem-cells-in-treatment-of-human-diseases-tissue-kallikrein-klk1-%C3%A2-based-targeted-therapy-review
#6
Marina Devetzi, Maria Goulielmaki, Nicolas Khoury, Demetrios A Spandidos, Georgia Sotiropoulou, Ioannis Christodoulou, Vassilis Zoumpourlis
The tissue kallikrein‑kinin system (KKS) is an endogenous multiprotein metabolic cascade which is implicated in the homeostasis of the cardiovascular, renal and central nervous system. Human tissue kallikrein (KLK1) is a serine protease, component of the KKS that has been demonstrated to exert pleiotropic beneficial effects in protection from tissue injury through its anti‑inflammatory, anti‑apoptotic, anti‑fibrotic and anti‑oxidative actions. Mesenchymal stem cells (MSCs) or endothelial progenitor cells (EPCs) constitute populations of well‑characterized, readily obtainable multipotent cells with special immunomodulatory, migratory and paracrine properties rendering them appealing potential therapeutics in experimental animal models of various diseases...
January 3, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29323117/impaired-autophagy-bridges-lysosomal-storage-disease-and-epithelial-dysfunction-in-the-kidney
#7
Beatrice Paola Festa, Zhiyong Chen, Marine Berquez, Huguette Debaix, Natsuko Tokonami, Jenny Ann Prange, Glenn van de Hoek, Cremonesi Alessio, Andrea Raimondi, Nathalie Nevo, Rachel H Giles, Olivier Devuyst, Alessandro Luciani
The endolysosomal system sustains the reabsorptive activity of specialized epithelial cells. Lysosomal storage diseases such as nephropathic cystinosis cause a major dysfunction of epithelial cells lining the kidney tubule, resulting in massive losses of vital solutes in the urine. The mechanisms linking lysosomal defects and epithelial dysfunction remain unknown, preventing the development of disease-modifying therapies. Here we demonstrate, by combining genetic and pharmacologic approaches, that lysosomal dysfunction in cystinosis results in defective autophagy-mediated clearance of damaged mitochondria...
January 11, 2018: Nature Communications
https://www.readbyqxmd.com/read/29322432/renal-histopathological-findings-of-retinal-vasculopathy-with-cerebral-leukodystrophy
#8
Yutaka Tsubata, Takashi Morita, Tetsuo Morioka, Taiji Sasagawa, Kouzo Ikarashi, Noriko Saito, Hisaki Shimada, Shigeru Miyazaki, Shinji Sakai, Hajime Tanaka, Rie Saito, Yasuko Toyoshima, Hiroaki Nozaki, Ichiei Narita
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant systemic microvascular disease. Neurological disorders and visual disturbance are highlighted as manifestations of RVCL; however, there are few reports focused on nephropathy. Herein, we describe detailed renal histopathological findings in a daughter and father with RVCL, proven by TREX1 genetic analysis. A kidney biopsy of the daughter, 35-year-old with asymptomatic proteinuria, revealed unique and various glomerular changes...
January 10, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29322327/combined-and-sequential-liver-kidney-transplantation-in-children
#9
Ryszard Grenda, Piotr Kaliciński
Combined and sequential liver-kidney transplantation (CLKT and SLKT) is a definitive treatment in children with end-stage organ failure. There are two major indications: - terminal insufficiency of both organs, or - need for transplanting new liver as a source of lacking enzyme or specific regulator of the immune system in a patient with renal failure. A third (uncommon) option is secondary end-stage renal failure in liver transplant recipients. These three clinical settings use distinct qualification algorithms...
January 10, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29321346/mutational-screening-of-pkd2-gene-in-the-north-indian-polycystic-kidney-disease-patients-revealed-28-genetic-variations
#10
Sonam Raj, Rana Gopal Singh, Parimal Das
Polycystic kidney disease (PKD) is a systemic disorder which adds majority of renal patients to end stage renal disease. Autosomal dominant polycystic kidney disease (ADPKD) is more prevalent and leading cause of dialysis and kidney transplant. Linkage analysis revealed some closely linked loci, two of which are identified as PKD1, PKD2 and an unidentified locus to ADPKD. This study was performed using PCR and automated DNA sequencing in 84 cases and 80 controls to test potential candidature of PKD2 as underlying cause of PKD by in silico and statistical analyses...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29319775/primary-hiperoxaluria-diagnosed-after-kidney-transplantation-report-of-2-cases-and-literature-review
#11
John Fredy Nieto Rios, Monica Zuluaga, Lina Maria Serna Higuita, Adriana Florez, Diana Carolina Bello-Marquez, Arbey Aristizábal, Catalina Ocampo Kohn, Gustavo Adolfo Zuluaga
Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation...
October 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29314707/comparison-of-early-versus-late-onset-familial-mediterranean-fever
#12
Nazife Sule Yasar Bilge, Ismail Sari, Dilek Solmaz, Soner Senel, Hakan Emmungil, Levent Kilic, Sibel Yilmaz Oner, Fatih Yildiz, Sedat Yilmaz, Duygu Ersozlu Bozkirli, Muge Aydin Tufan, Sema Yilmaz, Veli Yazisiz, Yavuz Pehlivan, Cemal Bes, Gozde Yildirim Cetin, Sukran Erten, Emel Gonullu, Fezan Sahin, Servet Akar, Kenan Aksu, Umut Kalyoncu, Haner Direskeneli, Eren Erken, Mehmet Sayarlioglu, Muhammed Cınar, Timucin Kasifoglu
AIM: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. METHODS: Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey...
January 5, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29304245/circulating-adiponectin-modifies-the-fgf23-response-to-vitamin-d-receptor-activation-a-post-hoc-analysis-of-a-double-blind-randomized-clinical-trial
#13
Belinda Spoto, Patrizia Pizzini, Giovanni Tripepi, Francesca Mallamaci, Carmine Zoccali
Background: The fibroblast growth factor 23 (FGF23) response to phosphate load is suppressed in adiponectin gene null mice and substantially amplified in mice overexpressing the same gene and vitamin D receptor (VDR) activation markedly enhances FGF23 gene expression. Methods: We performed an analysis of the static (baseline adiponectin levels) and dynamic (fluctuations in adiponectin levels) interactions of serum adiponectin with the FGF23 response to paricalcitol and placebo in the setting of a double-blind, randomized clinical trial in chronic kidney disease (CKD) patients (NCT01680198)...
February 3, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29297813/prevalence-of-cystinuria-in-servals-leptailurus-serval-in-the-united-states
#14
Sarah A Cannizzo, Mindy Stinner, Suzanne Kennedy-Stoskopf
Cystinuria is a condition caused by defects in amino acid transport within the kidneys and small intestines. It has been reported in humans, dogs, domestic cats, ferrets, nondomestic canids, and nondomestic felids, including servals ( Leptailurus serval). Genetic mutations have been identified in dogs, humans, and domestic cats. Cystinuria usually follows an autosomal recessive inheritance, although it can be autosomal dominant and sex linked. The primary objective of this study was to screen urine samples dried on filter paper from captive servals in the United States for cystinuria by using the cyanide-nitroprusside screening test...
December 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/29296205/angiotensin-ii-receptor-type-1-a1166c-modifies-the-association-between-angiotensinogen-m235t-and-chronic-kidney-disease
#15
Sui-Lung Su, Wei-Teing Chen, Po-Jen Hsiao, Kuo-Cheng Lu, Yuh-Feng Lin, Chin Lin, Wen Su, Shih-Jen Yeh, Hung Chang, Fu-Huang Lin
Single nucleotide polymorphisms (SNPs) in renin-angiotensin system (RAS) genes are associated with RAS imbalance and chronic kidney disease (CKD). We performed a case-control study and meta-analysis to investigate the association between angiotensinogen (AGT) M235T polymorphism and CKD. A total of 634 patients with end-stage renal disease and 739 healthy controls were studied. We also searched PubMed and the Cochrane Library to identify prospective observational studies published before December 2015. We found that the TT and MT genotypes were associated with a higher risk of CKD than the MM genotype (odds ratio [OR]: 3...
December 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/29285942/-non-alcoholic-fatty-liver-disease-as-a-component-of-the-metabolic-syndrome-and-its-causal-correlations-with-other-extrahepatic-diseases
#16
Tamás Halmos, Ilona Suba
Non-alcoholic fatty liver disease is the most common non-infectious chronic liver-disease in our age, and is a spectrum of all the diseases associated with increased fat accumulation in the hepatocytes. Its development is promoted by sedentary life-style, over-feeding, and certain genetic predisposition. Prevalence in the adult population, even in Hungary is ~30%. In a part of cases, this disease may pass into non-alcoholic steatohepatitis, later into fibrosis, rarely into primary hepatocellular cancer. Fatty liver is closely and bidirectionally related to the metabolic syndrome and type 2 diabetes, and nowadays there is a general consensus that fatty liver is the hepatic manifestation of the metabolic sycndrome...
December 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29285715/gene-mutations-and-clinical-phenotypes-in-15-chinese-children-with-cryopyrin-associated-periodic-syndrome-caps
#17
Caifeng Li, Xiaohua Tan, Junmei Zhang, Shipeng Li, Wenxiu Mo, Tongxin Han, Weiying Kuang, Yifang Zhou, Jianghong Deng
The aim of our study is to explore the features of clinical manifestations and genetic mutations in Chinese CAPS patients. Fifteen confirmed patients with CAPS were enrolled. The onset time ranges from 2 days after birth to 6 years and 1 month. Recurrent urticaria rash (93.3%) with fever (100%) were two dominant characteristics of these patients that were presented as either acute or chronic process. Systemic involvements were found in all patients except for one with only rash and fever. The top three symptoms were fever (100%), rash (93...
December 2, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/29282014/spectrum-characteristics-of-patients-with-chronic-kidney-disease-ckd-with-increasing-age-in-a-major-metropolitan-renal-service
#18
Usman Mahmood, Helen G Healy, Adrian Kark, Anne Cameron, Zaimin Wang, Rajitha Abeysekera, Wendy E Hoy
BACKGROUND: Aim of our study is to describe, in people with CKD, the demographic and clinical characteristics and outcomes with increasing age. The prevalence of CKD in Western populations, where longevity is the norm, is about 10-15%, but how age influence different characteristics of patients with CKD is largely not known. METHODS: One thousand two hundred sixty-five patients enrolled in the CKD.QLD registry at the Royal Brisbane and Women's Hospital were grouped according to age at consent i...
December 28, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29276774/effect-of-environmental-factors-and-an-emerging-parasitic-disease-on-gut-microbiome-of-wild-salmonid-fish
#19
Anti Vasemägi, Marko Visse, Veljo Kisand
The gastrointestinal tract (GIT) of fish supports a dynamic microbial ecosystem that is intimately linked to host nutrient acquisition, epithelial development, immune system priming, and disease prevention, and we are far from understanding the complex interactions among parasites, symbiotic gut bacteria, and host fitness. Here, we analyzed the effects of environmental factors and parasitic burdens on the microbial composition and diversity within the GIT of the brown trout (Salmo trutta). We focused on the emerging dangerous salmonid myxozoan parasite Tetracapsuloides bryosalmonae, which causes proliferative kidney disease in salmonid fish, to demonstrate the potential role of GIT micobiomes in the modulation of host-parasite relationships...
November 2017: MSphere
https://www.readbyqxmd.com/read/29276149/real-time-and-non-invasive-monitoring-of-the-activation-of-the-ire1%C3%AE-xbp1-pathway-in-individuals-with-hemodynamic-impairment
#20
Baptiste Fohlen, Quentin Tavernier, Thi-Mum Huynh, Cédric Caradeuc, Delphine Le Corre, Gildas Bertho, Bernard Cholley, Nicolas Pallet
Many stressors that are encountered upon kidney injury are likely to trigger endoplasmic reticulum (ER) stress, subsequently activating transcriptional, translational and metabolic reprogramming. Monitoring early cellular adaptive responses engaged after hemodynamic impairment yields may represent a clinically relevant approach. However, a non-invasive method for detecting the ER stress response has not been developed. We combined a metabolomic approach with genetic marker analyses using urine from individuals undergoing scheduled cardiac surgery under cardiopulmonary bypass to investigate the feasibility and significance of monitoring the ER stress response in the kidney...
December 20, 2017: EBioMedicine
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