keyword
MENU ▼
Read by QxMD icon Read
search

APOL1

keyword
https://www.readbyqxmd.com/read/29277510/hla-dqa1-and-apol1-as-risk-loci-for-childhood-onset-steroid-sensitive-and-steroid-resistant-nephrotic-syndrome
#1
Adebowale Adeyemo, Christopher Esezobor, Adaobi Solarin, Asiri Abeyagunawardena, Jameela A Kari, Sherif El Desoky, Larry A Greenbaum, Margret Kamel, Mahmoud Kallash, Cynthia Silva, Alex Young, Tracey E Hunley, Nilka de Jesus-Gonzalez, Tarak Srivastava, Rasheed Gbadegesin
BACKGROUND: Few data exist for the genetic variants underlying the risk for steroid-sensitive nephrotic syndrome (SSNS) in children. The objectives of this study were to evaluate HLA-DQA1 and APOL1 variants as risk factors for SSNS in African American children and use classic HLA antigen types and amino acid inference to refine the HLA-DQA1 association. STUDY DESIGN: Case-control study. SETTING & PARTICIPANTS: African American children with SSNS or steroid-resistant nephrotic syndrome (SRNS) were enrolled from Duke University and centers participating in the Midwest Pediatric Nephrology Consortium...
December 22, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29205277/clinical-and-genetic-factors-are-associated-with-pain-and-hospitalisation-rates-in-sickle-cell-anaemia-in-cameroon
#2
Ambroise Wonkam, Khuthala Mnika, Valentina J Ngo Bitoungui, Bernard Chetcha Chemegni, Emile R Chimusa, Collet Dandara, Andre P Kengne
We aimed to investigate the clinical and genetic predictors of painful vaso-occlusive crises (VOC) in sickle cell disease (SCD) in Cameroon. Socio-demographics, clinical variables/events and haematological indices were acquired. Genotyping was performed for 40 variants in 17 pain-related genes, three fetal haemoglobin (HbF)-promoting loci, two kidney dysfunctions-related genes, and HBA1/HBA2 genes. Statistical models using regression frameworks were performed in R® . A total of 436 hydoxycarbamide- and opioid-naïve patients were studied; median age was 16 years...
December 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29180397/apol1-overexpression-drives-variant-independent-cytotoxicity
#3
John F O'Toole, William Schilling, Diana Kunze, Sethu M Madhavan, Martha Konieczkowski, Yaping Gu, Liping Luo, Zhenzhen Wu, Leslie A Bruggeman, John R Sedor
Coding variants in the APOL1 gene are associated with kidney diseases in African ancestral populations; yet, the underlying biologic mechanisms remain uncertain. Variant-dependent autophagic and cytotoxic cell death have been proposed as pathogenic pathways mediating kidney injury. To examine this possibility, we conditionally expressed APOL1-G0 (reference), -G1, and -G2 (variants) using a tetracycline-regulated system in HEK293 cells. Autophagy was monitored biochemically and cell death was measured using multiple assays...
November 27, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29173252/chronic-kidney-disease-in-african-americans-puzzle-pieces-are-falling-into-place
#4
REVIEW
Joseph V Nally
Recent decades have seen great advances in the understanding of chronic kidney disease, spurred by standardizing disease definitions and large-scale patient surveillance. African Americans are disproportionately affected by the disease, and recently discovered genetic variants in APOL1 that protect against sleeping sickness in Africa provide an important explanation for the increased burden. Studies are now under way to determine if genetic testing of African American transplant donors and recipients is advisable...
November 2017: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/29162341/-novel-insights-into-the-role-of-apol1-in-the-kidney
#5
Inna Mohamadou, Alexandre Hertig
No abstract text is available yet for this article.
November 18, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29123971/concepts-of-genomics-in-kidney-transplantation
#6
William S Oetting, Casey Dorr, Rory P Remmel, Arthur J Matas, Ajay K Israni, Pamala A Jacobson
Purpose of review: Identification of genetic variants to aid in individualized treatment of solid organ allograft recipients would improve graft survival. We will review the current state of knowledge for associations of variants with transplant outcomes. Recent findings: Many studies have yet to exhibit robust and reproducible results, however, pharmacogenomic studies focusing on cytochrome P450 (CYP) enzymes, transporters and HLA variants have shown strong associations with outcomes and have relevance towards drugs used in transplant...
June 2017: Current Transplantation Reports
https://www.readbyqxmd.com/read/29123261/a-new-panel-of-pancreatic-cancer-biomarkers-discovered-using-a-mass-spectrometry-based-pipeline
#7
Xiaohui Liu, Weimin Zheng, Wansheng Wang, Huali Shen, Linxiao Liu, Wenhui Lou, Xiaolin Wang, Pengyuan Yang
BACKGROUND: Pancreatic carcinoma (PC) is an aggressive malignancy that lacks strategies for early detection. This study aimed to develop a coherent, high-throughput and non-discriminatory pipeline for the novel clinical biomarker discovery of PC. METHODS: We combined mass spectrometry (MS)-intensive methods such as isobaric tags for relative and absolute quantitation with two-dimensional liquid chromatography-tandem mass spectrometry (iTRAQ-2DLC-MS/MS), 1D-targeted LC-MS/MS, prime MRM (P-MRM) and stable isotope dilution-based MRM (SID-MRM) to analyse serum samples from healthy people (normal control, NC), patients with benign diseases (BD) and PC patients to identify novel biomarkers of PC...
November 9, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/29120031/histopathological-immunohistochemical-and-stereological-analysis-of-the-effect-of-gingko-biloba-egb761-on-the-hippocampus-of-rats-exposed-to-long-term-cellphone-radiation
#8
Fikret Gevrek
Cellular phones are major sources of electromagnetic radiation (EMR) that can penetrate the human body and pose serious health hazards. The increasingly widespread use of mobile communication systems has raised concerns about the effects of cellphone radiofrequency (RF) on the hippocampus because of its close proximity to radiation during cellphone use. The effects of cellphone EMR exposure on the hippocampus of rats and the possible counteractive effects of ginkgo biloba (Egb761) were aimed to investigate...
November 9, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/29113983/fgf23-concentration-and-apol1-genotype-are-novel-predictors-of-mortality-in-african-americans-with-type-2-diabetes
#9
Gary C Chan, Jasmin Divers, Gregory B Russell, Carl D Langefeld, Lynne E Wagenknecht, Fang-Chi Hsu, Jianzhao Xu, S Carrie Smith, Nicholette D Palmer, Pamela J Hicks, Donald W Bowden, Thomas C Register, Lijun Ma, J Jeffrey Carr, Barry I Freedman
OBJECTIVE: Cardiovascular and renal complications contribute to higher mortality in patients with diabetes. We assessed novel and conventional predictors of mortality in African American-Diabetes Heart Study (AA-DHS) participants. RESEARCH DESIGN AND METHODS: Associations between mortality and subclinical atherosclerosis, urine albumin-to-creatinine ratio (UACR), estimated glomerular filtration rate (eGFR), plasma fibroblast growth factor 23 (FGF23) concentration, African ancestry proportion, and apolipoprotein L1 genotypes (APOL1) were assessed in 513 African Americans with type 2 diabetes; analyses were performed using Cox proportional hazards models...
January 2018: Diabetes Care
https://www.readbyqxmd.com/read/29110763/clinical-genetic-testing-for-apol1-are-we-there-yet
#10
REVIEW
Bessie A Young, Stephanie Malia Fullerton, James G Wilson, Kerri Cavanaugh, Erika Blacksher, Clarence Spigner, Jonathan Himmelfarb, Wylie Burke
End-stage renal disease (ESRD) disproportionately affects African Americans, who are two to four times more likely than European Americans to develop ESRD. Two independent variants of the apolipoprotein L1 (APOL1) gene, G1 and G2, have been associated with a 7- to 10-fold greater risk of developing nondiabetic ESRD in African Americans. Those who inherit two risk variants (G1/G1, G2/G2, or G1/G2) are also more likely to develop ESRD at a younger age and to have progression of chronic kidney disease. Currently, it is not known what proportion of persons with high-risk genotypes will develop ESRD in the general population, the exact mechanism of injury for APOL1-related risk, its relation to environmental exposures, or whether patients with comorbid conditions are more likely to develop ESRD...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29110762/apol1-nephrotoxicity-what-does-ion-transport-have-to-do-with-it
#11
REVIEW
Opeyemi A Olabisi, John F Heneghan
Apolipoprotein L1 (APOL1) protein is the human serum factor that protect human beings against Trypanosoma brucei brucei, the cause of trypanosomiasis. Subspecies of T b brucei that cause human sleeping sickness-T b gambiense and T b rhodesiense evolved molecular mechanisms that enabled them to evade killing by APOL1. Sequence changes (termed G1 and G2) in the APOL1 gene that restored its ability to kill T b rhodesiense also increase the risk of developing glomerular diseases and accelerate progression to end-stage kidney disease...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29110761/the-cell-biology-of-apol1
#12
REVIEW
John F O'Toole, Leslie A Bruggeman, Sethu Madhavan, John R Sedor
The association of variants in the APOL1 gene, which encodes apolipoprotein L1 (APOL1), with progressive nondiabetic kidney diseases in African Americans has prompted intense investigation into the function(s) of APOL1. APOL1 is an innate immune effector that protects human beings from infection by some trypanosomal parasites. We review the data characterizing APOL1 trypanolytic function, which has been a basis for studies of APOL1 function in mammalian cells. Subsequently, we discuss the studies that use animal models, mammalian cell culture models, and kidney biopsy tissue to discover the mechanisms of variant APOL1-associated kidney diseases...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29110760/apolipoprotein-l1-gene-effects-on-kidney-transplantation
#13
REVIEW
Barry I Freedman, Jayme E Locke, Amber M Reeves-Daniel, Bruce A Julian
The pathogenesis of many common etiologies of nephropathy has been informed by recent molecular genetic breakthroughs. It now is apparent that the ethnic disparity in the risk for nondiabetic chronic kidney disease between African Americans and European Americans is explained largely by variation in the apolipoprotein L1 gene (APOL1). The presence of two APOL1 renal risk variants markedly increases an individual's risk for kidney disease. In transplantation, kidneys from deceased African Americans with two APOL1 renal risk variants have shorter survival intervals after engraftment, regardless of the ethnicity of the recipient...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29110759/the-expanding-role-of-apol1-risk-in-chronic-kidney-disease-and-cardiovascular-disease
#14
REVIEW
Michelle M Estrella, Rulan S Parekh
Variants of the APOL1 gene, found primarily in individuals of African descent, are associated with various forms of kidney disease and kidney disease progression. Recent studies evaluating the association of APOL1 with cardiovascular disease have yielded conflicting results, and the potential role in cardiovascular disease remains unclear. In this review, we summarize the observational studies linking the APOL1 risk variants with chronic kidney and cardiovascular disease among persons of African descent.
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29110758/apol1-renal-risk-variants-fertile-soil-for-hiv-associated-nephropathy
#15
REVIEW
Jeffrey B Kopp, Jurgen Heymann, Cheryl A Winkler
Apolipoprotein L1 (APOL1) genetic variants are potent risk factors for glomerular disease, but one or more additional factors are required for expression of glomerular disease. Uncontrolled or poorly controlled human immunodeficiency virus (HIV) infection is the most potent susceptibility factor for APOL1 nephropathy that has been identified to date. APOL1 variants are associated with HIV-associated nephropathy (HIVAN), a podocyte disease, but not with HIV-immune complex disease, primarily a disease of the mesangium...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29110757/a-brief-history-of-apol1-a-gene-evolving
#16
REVIEW
David J Friedman
APOL1 kidney risk variants lead to high rates of kidney disease in people of recent African ancestry. These risk variants are very common and confer a large increase in risk of kidney disease. This unusual combination of high frequency and large effect size occurs because the risk variants also appear to have beneficial properties. The risk variants show enhanced protective effects against certain pathogens, particularly the trypanosomes that cause African sleeping sickness. Here, we consider the origins and evolution of the primate-only APOL1 gene...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29110756/apol1-nephropathy-a-population-genetics-and-evolutionary-medicine-detective-story
#17
REVIEW
Etty Kruzel-Davila, Walter G Wasser, Karl Skorecki
Common DNA sequence variants rarely have a high-risk association with a common disease. When such associations do occur, evolutionary forces must be sought, such as in the association of apolipoprotein L1 (APOL1) gene risk variants with nondiabetic kidney diseases in populations of African ancestry. The variants originated in West Africa and provided pathogenic resistance in the heterozygous state that led to high allele frequencies owing to an adaptive evolutionary selective sweep. However, the homozygous state is disadvantageous and is associated with a markedly increased risk of a spectrum of kidney diseases encompassing hypertension-attributed kidney disease, focal segmental glomerulosclerosis, human immunodeficiency virus nephropathy, sickle cell nephropathy, and progressive lupus nephritis...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29110755/introduction-apol1-associated-kidney-disease
#18
EDITORIAL
Martin R Pollak
No abstract text is available yet for this article.
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29077717/a-polymorphism-in-the-haptoglobin-haptoglobin-related-protein-locus-is-associated-with-risk-of-human-sleeping-sickness-within-cameroonian-populations
#19
Elvis Ofon, Harry Noyes, Julius Mulindwa, Hamidou Ilboudo, Martin Simuunza, Vincent Ebo'o, Flobert Njiokou, Mathurin Koffi, Bruno Bucheton, Pythagore Fogue, Christiane Hertz-Fowler, Annette MacLeod, Gustave Simo
BACKGROUND: Human African Trypanosomiasis (HAT) is a neglected disease targeted for elimination as a public health problem by 2020. Elimination requires a better understanding of the epidemiology and clinical evolution of HAT. In addition to the classical clinical evolution of HAT, asymptomatic carriers and spontaneous cure have been reported in West Africa. A genetic component to human susceptibility to HAT has been suggested to explain these newly observed responses to infection. In order to test for genetic associations with infection response, genetic polymorphism in 17 genes were tested (APOL1, IL1B, IL4, IL4R, IL6, IL8, IL12B, IL12RB1, IL10, TNFA, INFG, MIF, HLA-G, HLA-A, HP, HPR and CFH)...
October 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29059176/candidate-genes-based-investigation-of-susceptibility-to-human-african-trypanosomiasis-in-c%C3%A3-te-d-ivoire
#20
Bernardin Ahouty, Mathurin Koffi, Hamidou Ilboudo, Gustave Simo, Enock Matovu, Julius Mulindwa, Christiane Hertz-Fowler, Bruno Bucheton, Issa Sidibé, Vincent Jamonneau, Annette MacLeod, Harry Noyes, Simon-Pierre N'Guetta
Human African Trypanosomiasis (HAT) or sleeping sickness is a Neglected Tropical Disease. Long regarded as an invariably fatal disease, there is increasing evidence that infection by T. b. gambiense can result in a wide range of clinical outcomes, including latent infections, which are long lasting infections with no parasites detectable by microscopy. The determinants of this clinical diversity are not well understood but could be due in part to parasite or host genetic diversity in multiple genes, or their interactions...
October 2017: PLoS Neglected Tropical Diseases
keyword
keyword
29479
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"