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Genetic kidney disease

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https://www.readbyqxmd.com/read/28924605/pai-1-is-a-critical-regulator-of-fgf23-homeostasis
#1
Mesut Eren, Aaron T Place, Paul M Thomas, Panagiotis Flevaris, Toshio Miyata, Douglas E Vaughan
Elevated levels of fibroblast growth factor 23 (FGF23), a bone-derived phosphaturic hormone, are associated with a number of pathologic conditions including chronic kidney disease, cardiac hypertrophy, and congestive heart failure. Currently, there are no specific treatments available to lower plasma FGF23 levels. We have recently reported that genetic plasminogen activator inhibitor-1 (PAI-1) deficiency provided a significant reduction in circulating FGF23 levels while simultaneously prolonging the life span of Klotho-deficient mice...
September 2017: Science Advances
https://www.readbyqxmd.com/read/28919632/cd36-in-chronic-kidney-disease-novel-insights-and-therapeutic-opportunities
#2
REVIEW
Xiaochun Yang, Daryl M Okamura, Xifeng Lu, Yaxi Chen, John Moorhead, Zac Varghese, Xiong Z Ruan
CD36 (also known as scavenger receptor B2) is a multifunctional receptor that mediates the binding and cellular uptake of long-chain fatty acids, oxidized lipids and phospholipids, advanced oxidation protein products, thrombospondin and advanced glycation end products, and has roles in lipid accumulation, inflammatory signalling, energy reprogramming, apoptosis and kidney fibrosis. Renal CD36 is mainly expressed in tubular epithelial cells, podocytes and mesangial cells, and is markedly upregulated in the setting of chronic kidney disease (CKD)...
September 18, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28919587/human-leukocyte-antigen-class-i-and-ii-variants-in-yemeni-patients-with-chronic-renal-failure
#3
Mogahid Yahi'a Nassar, Hassan Abdulwahab Al-Shamahy, Abdullah Saleh Al-Samawi, Nagieb Waza'a Abu Asba, Ibrahiem Husain El-Nono, Haitham Abdulwahab Masood
BACKGROUND: Human leukocyte antigens (HLAs) are found to be significant genetic factors concerning the susceptibility of an individual to certain diseases. OBJECTIVE: To determine the association between variants of class I (A and B) and class II (DRB1) HLA alleles and chronic renal failure (CRF), compared with healthy controls, in Yemen. METHODS: A case-control study in the Urology and Nephrology Center at Al-Thawra University Hospital in Sana'a, Yemen was carried out between January 2013 and December 2015 and included 187 CRF patients, and 194 healthy controls visiting the same center for kidney donation...
September 2017: Iranian Journal of Immunology: IJI
https://www.readbyqxmd.com/read/28918051/lrrk2-antisense-oligonucleotides-ameliorate-%C3%AE-synuclein-inclusion-formation-in-a-parkinson-s-disease-mouse-model
#4
Hien Tran Zhao, Neena John, Vedad Delic, Karli Ikeda-Lee, Aneeza Kim, Andreas Weihofen, Eric E Swayze, Holly B Kordasiewicz, Andrew B West, Laura A Volpicelli-Daley
No treatments exist to slow or halt Parkinson's disease (PD) progression; however, inhibition of leucine-rich repeat kinase 2 (LRRK2) activity represents one of the most promising therapeutic strategies. Genetic ablation and pharmacological LRRK2 inhibition have demonstrated promise in blocking α-synuclein (α-syn) pathology. However, LRRK2 kinase inhibitors may reduce LRRK2 activity in several tissues and induce systemic phenotypes in the kidney and lung that are undesirable. Here, we test whether antisense oligonucleotides (ASOs) provide an alternative therapeutic strategy, as they can be restricted to the CNS and provide a stable, long-lasting reduction of protein throughout the brain...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28918017/efficacy-and-safety-profile-of-tricyclo-dna-antisense-oligonucleotides-in-duchenne-muscular-dystrophy-mouse-model
#5
Karima Relizani, Graziella Griffith, Lucía Echevarría, Faouzi Zarrouki, Patricia Facchinetti, Cyrille Vaillend, Christian Leumann, Luis Garcia, Aurélie Goyenvalle
Antisense oligonucleotides (AONs) hold promise for therapeutic splice-switching correction in many genetic diseases. However, despite advances in AON chemistry and design, systemic use of AONs is limited due to poor tissue uptake and sufficient therapeutic efficacy is still difficult to achieve. A novel class of AONs made of tricyclo-DNA (tcDNA) is considered very promising for the treatment of Duchenne muscular dystrophy (DMD), a neuromuscular disease typically caused by frameshifting deletions or nonsense mutations in the gene-encoding dystrophin and characterized by progressive muscle weakness, cardiomyopathy, and respiratory failure in addition to cognitive impairment...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28916390/il-33-receptor-st2-deficiency-attenuates-renal-ischaemia-reperfusion-injury-in-euglycaemic-but-not-streptozotocin-induced-hyperglycaemic-mice
#6
M Sehnine, M Ferhat, S Sena, J M Gombert, J M Goujon, A Thierry, G Touchard, T Hauet, A Herbelin, S Hadjadj
AIM: Kidney hypoxia can predispose to the development of acute and chronic renal failure in diabetes. Ischaemia-reperfusion injury (IRI) causes inflammation, and diabetes is known to exacerbate this inflammatory response in the kidney, whereas alarmin IL-33 could act as an innate immune mediator during kidney IRI. Thus, the present study examined the impact of genetic IL-33 receptor ST2 deficiency (ST2-/-) on renal IRI in euglycaemic and hyperglycaemic mice. METHODS: Hyperglycaemia was induced with streptozotocin (STZ) in adult male C57BL/6JRj wild-type (WT) mice and ST2-/- mice...
September 12, 2017: Diabetes & Metabolism
https://www.readbyqxmd.com/read/28915934/increased-yap-activation-is-associated-with-hepatic-cyst-epithelial-cell-proliferation-in-arpkd-chf
#7
Lu Jiang, Lina Sun, Genea Edwards, Michael Manley, Darren Wallace, Seth Septer, Chirag Manohar, Michele T Pritchard, Udayan Apte
Autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF) is a rare but fatal genetic disease characterized by progressive cyst development in the kidneys and liver. Liver cysts arise from aberrantly proliferative cholangiocytes accompanied by pericystic fibrosis and inflammation. Yes associated protein (YAP), the downstream effector of the Hippo signaling pathway, is implicated in human hepatic malignancies such as hepatocellular carcinoma, cholangiocarcinoma, and hepatoblastoma, but its role in hepatic cystogenesis in CHF/ARPKD is unknown...
September 15, 2017: Gene Expression
https://www.readbyqxmd.com/read/28915321/regulation-and-functions-of-the-renin-angiotensin-system-in-white-and-brown-adipose-tissue
#8
Mandana Pahlavani, Nishan S Kalupahana, Latha Ramalingam, Naima Moustaid-Moussa
The renin angiotensin system (RAS) is a major regulator of blood pressure, fluid, and electrolyte homeostasis. RAS precursor angiotensinogen (Agt) is cleaved into angiotensin I (Ang I) and II (Ang II) by renin and angiotensin converting enzyme (ACE), respectively. Major effects of Ang II, the main bioactive peptide of this system, is mediated by G protein coupled receptors, Angiotensin Type 1 (AGTR1, AT1R) and Type 2 (AGTR2, AT2R) receptors. Further, the discovery of additional RAS peptides such as Ang 1-7 generated by the action of another enzyme ACE2 identified novel functions of this complex system...
September 12, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28914782/the-future-challenge-of-reactive-oxygen-species-ros-in-hypertension-from-bench-to-bed-side
#9
REVIEW
Gabriele Togliatto, Giusy Lombardo, Maria Felice Brizzi
Reactive oxygen species (ROS) act as signaling molecules that control physiological processes, including cell adaptation to stress. Redox signaling via ROS has quite recently become the focus of much attention in numerous pathological contexts, including neurodegenerative diseases, kidney and cardiovascular disease. Imbalance in ROS formation and degradation has also been implicated in essential hypertension. Essential hypertension is characterized by multiple genetic and environmental factors which do not completely explain its associated risk factors...
September 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28912863/a-novel-mutation-in-the-hepatocyte-nuclear-factor-1%C3%AE-gene-in-maturity-onset-diabetes-of-the-young-5-with-multiple-renal-cysts-and-pancreas-hypogenesis-a-case-report
#10
You Lv, Zhuo Li, Kan He, Ying Gao, Xianchao Xiao, Yujia Liu, Guixia Wang
A 17-year-old Chinese male was hospitalized exhibiting hyperglycemia and increased serum urea nitrogen and creatinine levels in addition to weight loss. The patient was treated with gliclazide. The patient was 150 cm tall, weighed 35 kg and had no family history of diabetes or kidney disease. Physical examination revealed cephalus quadratus, rachitic rosary and a visible toe-out gait. Laboratory examinations revealed that the patient's fasting plasma glucose and glycosylated hemoglobin levels were markedly increased, fasting plasma C-peptide level was slightly increased and no peak 2 h postprandial was observed...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28910789/end-stage-renal-disease-inflammation-and-cardiovascular-outcomes
#11
Lu Dai, Edyta Golembiewska, Bengt Lindholm, Peter Stenvinkel
Despite marked improvements in renal replacement therapy during the last 30 years, the age-adjusted mortality rate in end-stage renal disease (ESRD) patients is still unacceptably high and comparable to that of many malignancies. Cardiovascular disease (CVD) remains the major cause of morbidity and mortality in ESRD patients. However, traditional risk factors can only partially explain the high premature cardiovascular burden in this population. Nontraditional risk factors, including persistent low-grade inflammation, are critical in the pathogenesis of atherosclerosis, vascular calcification, and other causes of CVD and may also contribute to protein-energy wasting and other complications in chronic kidney disease (CKD) patients...
2017: Contributions to Nephrology
https://www.readbyqxmd.com/read/28904861/a-modified-graft-versus-host-induced-model-for-systemic-sclerosis-with-pulmonary-fibrosis-in-rag2-deficient-mice
#12
Xue Yang, Chi Liu, Masayuki Fujino, Ji Yang, Xiao-Kang Li, Hejian Zou
Systemic sclerosis (SSc) is a connective tissue disease that results in fibrosis in multiple organs. Various animal models for this disease have been developed, both genetic and induced. One of the induced models, sclerodermatous graft-versus-host disease (scl-GvHD), exhibits the main characteristics of SSc, but involves lethal γ-irradiation of recipients. We sought to develop a modified scl-GvHD model. Spleen cells from B10.D2 donor mice were transplanted into immunodeficient Rag-2 recipients on the BALB/c genetic background...
September 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28901522/glutathione-system-in-wolfram-syndrome-1%C3%A2-deficient-mice
#13
Rando Porosk, Kalle Kilk, Riina Mahlapuu, Anton Terasmaa, Ursel Soomets
Wolfram syndrome 1 (WS) is a rare neurodegenerative disease that is caused by mutations in the Wolfram syndrome 1 (WFS1) gene, which encodes the endoplasmic reticulum (ER) glycoprotein wolframin. The pathophysiology of WS is ER stress, which is generally considered to induce oxidative stress. As WS has a well‑defined monogenetic origin and a model for chronic ER stress, the present study aimed to characterize how glutathione (GSH), a major intracellular antioxidant, was related to the disease and its progression...
August 31, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28895517/assessment-of-molecular-and-genetic-evolution-antigenicity-and-virulence-properties-during-the-persistence-of-the-infectious-bronchitis-virus-in-broiler-breeders
#14
Filipe Santos Fernando, Thaiane Coelho Kasmanas, Priscila Diniz Lopes, Maria de Fátima da Silva Montassier, Marcos Antônio Zanella Mores, Viviane Casagrande Mariguela, Caren Pavani, Romeu Moreira Dos Santos, Mário Sérgio Assayag, Helio José Montassier
The infectious bronchitis virus (IBV) causes a highly contagious disease [infectious bronchitis (IB)] that results in substantial economic losses to the poultry industry worldwide. We conducted a molecular and phylogenetic analysis of the S1 gene of Brazilian (BR) IBV isolates from a routinely vaccinated commercial flock of broiler breeders, obtained from clinical IB episodes that occurred in 24-, 46- and 62-week-old chickens. We also characterized the antigenicity, pathogenesis, tissue tropism and spreading of three IBV isolates by experimental infection of specific pathogen-free (SPF) chickens and contact sentinel birds...
September 12, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28892806/a-novel-missense-gla-mutation-p-g35v-detected-in-hemodialysis-screening-leads-to-severe-systemic-manifestations-of-fabry-disease-in-men-and-women
#15
Valeria Soares Pigozzi Veloso, Thiago Lacerda Ataides, Maria Eugênia Fernandes Canziani, Mariana Pigozzi Veloso, Nilzio Antônio da Silva, Daniela Veit Barreto, Edna Regina Silva Pereira, Luiz Antonio Ribeiro de Moura, Fellype Carvalho Barreto
BACKGROUND/AIMS: Fabry disease (FD), an X-linked lysosomal storage disorder, leads to accumulation of globotriaosylceramide. Screening in dialysis patients may identify genetic variants of unknown clinical significance. We aimed to characterize the pathogenicity of a novel GLA gene mutation identified during hemodialysis screening and the histologic findings of early Fabry nephropathy. METHODS: One out of 108 male hemodialysis patients screened for FD presented low α-galactosidase A activity...
September 12, 2017: Nephron
https://www.readbyqxmd.com/read/28892094/deletion-of-pkd1-in-renal-stromal-cells-causes-defects-in-the-renal-stromal-compartment-and-progressive-cystogenesis-in-the-kidney
#16
Xuguang Nie, Lois J Arend
Autosomal dominant polycystic kidney disease (ADPKD), caused by PKD1 and PKD2 gene mutations, is one of the most common genetic diseases, affecting up to 1 in 500 people. Mutations of PKD1 account for over 85% of ADPKD cases. However, mechanisms of disease progression and explanations for the wide range in disease phenotype remain to be elucidated. Moreover, functional roles of PKD1 in the renal stromal compartment are poorly understood. In this work, we tested if Pkd1 is essential for development and maintenance of the renal stromal compartment and if this role contributes to pathogenesis of polycystic kidney disease using a novel tissue-specific knockout mouse model...
September 11, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28888852/renal-endoplasmic-reticulum-stress-is-coupled-to-impaired-autophagy-in-a-mouse-model-of-gsd-ia
#17
Benjamin L Farah, Dustin J Landau, Yajun Wu, Rohit A Sinha, Alwin Loh, Boon-Huat Bay, Dwight D Koeberl, Paul M Yen
GSD Ia (von Gierke Disease, Glycogen Storage Disease Type Ia) is a devastating genetic disorder with long-term sequelae, such as non-alcoholic fatty liver disease and renal failure. Down-regulated autophagy is involved in the development of hepatic metabolic dysfunction in GSD Ia; however, the role of autophagy in the renal pathology is unknown. Here we show that autophagy is impaired and endoplasmic reticulum (ER) stress is increased in the kidneys of a mouse model of GSD Ia. Induction of autophagy by rapamycin also reduces this ER stress...
September 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28886586/a-murine-ig-light-chain-transgene-reveals-igkv3-gene-contributions-to-anti-collagen-types-iv-and-ii-specificities
#18
Amy G Clark, Inge M Worni-Schudel, Francesca M Korte, Mary H Foster
A subset of autoimmune diseases result from autoantibodies targeting epitopes on matrix collagen. The most extensively studied are anti-glomerular basement membrane glomerulonephritis (or its systemic counterpart Goodpasture's disease) that destroys kidneys and lungs, and rheumatoid arthritis that leads to disabling arthritis. Autoantibodies in these disorders bind evolutionarily conserved conformational epitopes on the noncollagenous domain 1 (NC1) of the alpha3 chain of type IV [alpha3(IV)NC1] collagen in glomerular and alveolar basement membranes, and on native or citrullinated type II collagen (CII) in joint cartilage, respectively...
September 5, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28884334/periostin-in-kidney-diseases
#19
REVIEW
Niki Prakoura, Christos Chatziantoniou
Chronic kidney disease is an incurable to date pathology, with renal replacement therapy through dialysis or transplantation being the only available option for end-stage patients. A deeper understanding of the molecular mechanisms governing the progression of kidney diseases will permit the identification of unknown mediators and potential novel markers or targets of therapy which promise more efficient diagnostic and therapeutic applications. Over the last years, periostin was established by several studies as a novel key player in the progression of renal disease...
September 7, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28884028/spontaneous-coronary-artery-dissection-a-rare-manifestation-of-alport-syndrome
#20
Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko
Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of type IV collagen in the glomerulus, cochlea, cornea, lens, and retina. The resulting disorder includes hereditary nephritis, corneal opacities, anterior lenticonus, fleck retinopathy, temporal retinal thinning, and sensorineural deafness. Aortic and aortic valve pathologies have been described as extrarenal manifestations of AS in multiple case reports...
2017: Case Reports in Cardiology
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