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HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome.
Adeyemo A, Esezobor C, Solarin A, Abeyagunawardena A, Kari JA, El Desoky S, Greenbaum LA, Kamel M, Kallash M, Silva C, Young A, Hunley TE, de Jesus-Gonzalez N, Srivastava T, Gbadegesin R
(2018) Am J Kidney Dis 71: 399-406
MeSH Terms: African Americans, Age Distribution, Age of Onset, Alleles, Apolipoprotein L1, Case-Control Studies, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Genetic Variation, HLA-DQ alpha-Chains, Humans, Incidence, Infant, Male, Nephrotic Syndrome, Prognosis, Risk Assessment, Sex Distribution, Steroids, United States
Added July 5, 2021
0 Communities
1 Members
0 Resources
MeSH Terms
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Sanyal M, Morimoto M, Baradaran-Heravi A, Choi K, Kambham N, Jensen K, Dutt S, Dionis-Petersen KY, Liu LX, Felix K, Mayfield C, Dekel B, Bokenkamp A, Fryssira H, Guillen-Navarro E, Lama G, Brugnara M, Lücke T, Olney AH, Hunley TE, Polat AI, Yis U, Bogdanovic R, Mitrovic K, Berry S, Najera L, Najafian B, Gentile M, Nur Semerci C, Tsimaratos M, Lewis DB, Boerkoel CF
(2015) Clin Immunol 161: 355-65
MeSH Terms: Adolescent, Adult, Arteriosclerosis, Cells, Cultured, Child, Child, Preschool, DNA Helicases, DNA Methylation, Flow Cytometry, Gene Expression, Humans, Immunohistochemistry, Immunologic Deficiency Syndromes, Interleukin-17, Leukocytes, Mononuclear, Mutation, Nephrotic Syndrome, Osteochondrodysplasias, Primary Immunodeficiency Diseases, Promoter Regions, Genetic, Pulmonary Embolism, Receptors, Interleukin-7, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, T-Lymphocytes, Young Adult
Added July 5, 2021
0 Communities
1 Members
0 Resources
MeSH Terms
Differentially expressed urinary biomarkers in children with idiopathic nephrotic syndrome.
Suresh CP, Saha A, Kaur M, Kumar R, Dubey NK, Basak T, Tanwar VS, Bhardwaj G, Sengupta S, Batra VV, Upadhyay AD
(2016) Clin Exp Nephrol 20: 273-83
MeSH Terms: Biomarkers, Child, Child, Preschool, Female, Humans, Male, Nephrotic Syndrome
Added November 3, 2017
0 Communities
1 Members
0 Resources
7 MeSH Terms
Glypican-5 Increases Susceptibility to Nephrotic Damage in Diabetic Kidney.
Okamoto K, Honda K, Doi K, Ishizu T, Katagiri D, Wada T, Tomita K, Ohtake T, Kaneko T, Kobayashi S, Nangaku M, Tokunaga K, Noiri E
(2015) Am J Pathol 185: 1889-98
MeSH Terms: Adult, Aged, Animals, Cell Line, Diabetes Mellitus, Type 2, Diabetic Nephropathies, Disease Susceptibility, Female, Fibroblast Growth Factor 2, Glomerular Mesangium, Glypicans, Humans, Hyperglycemia, Kidney, Kidney Failure, Chronic, Male, Mesangial Cells, Mice, Mice, Inbred C57BL, Mice, Knockout, Middle Aged, Nephrotic Syndrome, Podocytes, Proteinuria, Rats
Added February 11, 2016
0 Communities
1 Members
0 Resources
25 MeSH Terms
A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia.
Carroll C, Hunley TE, Guo Y, Cortez D
(2015) Am J Med Genet A 167A: 2260-4
MeSH Terms: Arteriosclerosis, Child, DNA Helicases, DNA Replication, Exons, Female, Gene Expression, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Introns, Lymphocytes, Mutation, Nephrotic Syndrome, Osteochondrodysplasias, Pedigree, Primary Immunodeficiency Diseases, Pulmonary Embolism, RNA Splice Sites
Added February 4, 2016
0 Communities
2 Members
0 Resources
19 MeSH Terms
HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome.
Gbadegesin RA, Adeyemo A, Webb NJ, Greenbaum LA, Abeyagunawardena A, Thalgahagoda S, Kale A, Gipson D, Srivastava T, Lin JJ, Chand D, Hunley TE, Brophy PD, Bagga A, Sinha A, Rheault MN, Ghali J, Nicholls K, Abraham E, Janjua HS, Omoloja A, Barletta GM, Cai Y, Milford DD, O'Brien C, Awan A, Belostotsky V, Smoyer WE, Homstad A, Hall G, Wu G, Nagaraj S, Wigfall D, Foreman J, Winn MP, Mid-West Pediatric Nephrology Consortium
(2015) J Am Soc Nephrol 26: 1701-10
MeSH Terms: Age Distribution, Age of Onset, Alleles, Case-Control Studies, Child, Child, Preschool, Cohort Studies, Female, Genetic Predisposition to Disease, Genotype, HLA-DQ alpha-Chains, Humans, Incidence, Male, Mutation, Missense, Nephrotic Syndrome, Phospholipase C gamma, Sex Distribution, Sri Lanka, Steroids
Added July 5, 2021
0 Communities
1 Members
0 Resources
MeSH Terms
Proteinuria Increases Plasma Phosphate by Altering Its Tubular Handling.
de Seigneux S, Courbebaisse M, Rutkowski JM, Wilhelm-Bals A, Metzger M, Khodo SN, Hasler U, Chehade H, Dizin E, Daryadel A, Stengel B, NephroTest Study Group, Girardin E, Prié D, Wagner CA, Scherer PE, Martin PY, Houillier P, Feraille E
(2015) J Am Soc Nephrol 26: 1608-18
MeSH Terms: Adult, Albuminuria, Analysis of Variance, Animals, Benzimidazoles, Biphenyl Compounds, Blotting, Western, Child, Disease Models, Animal, Fibroblast Growth Factor-23, Fibroblast Growth Factors, Humans, Kidney Tubules, Proximal, Male, Mice, Mice, Transgenic, Nephrotic Syndrome, Parathyroid Hormone, Phosphates, Prospective Studies, Proteinuria, Rats, Rats, Wistar, Sensitivity and Specificity, Sodium-Phosphate Cotransporter Proteins, Type IIa, Tetrazoles, Urinalysis
Added December 26, 2018
0 Communities
1 Members
0 Resources
27 MeSH Terms
Podocyte-associated talin1 is critical for glomerular filtration barrier maintenance.
Tian X, Kim JJ, Monkley SM, Gotoh N, Nandez R, Soda K, Inoue K, Balkin DM, Hassan H, Son SH, Lee Y, Moeckel G, Calderwood DA, Holzman LB, Critchley DR, Zent R, Reiser J, Ishibe S
(2014) J Clin Invest 124: 1098-113
MeSH Terms: Actin Cytoskeleton, Animals, Calpain, Cell Adhesion, Cells, Cultured, Focal Adhesions, Glomerular Filtration Barrier, Humans, Integrin beta1, Mice, Mice, Knockout, Nephrotic Syndrome, Podocytes, Proteinuria, Proteolysis, Renal Insufficiency, Talin
Added February 25, 2014
1 Communities
1 Members
0 Resources
17 MeSH Terms
Homocysteine metabolism in children with idiopathic nephrotic syndrome.
Kundal M, Saha A, Dubey NK, Kapoor K, Basak T, Bhardwaj G, Tanwar VS, Sengupta S, Batra V, Upadhayay AD, Bhatt A
(2014) Clin Transl Sci 7: 132-6
MeSH Terms: Case-Control Studies, Child, Cholesterol, Cysteine, Demography, Female, Folic Acid, Homocysteine, Humans, Male, Nephrotic Syndrome, Proteinuria, Remission Induction, Serum Albumin, Vitamin B 12
Added November 3, 2017
0 Communities
1 Members
0 Resources
15 MeSH Terms
Patient-reported outcomes in clinical trials of CKD-related therapies: report of a symposium sponsored by the national kidney foundation and the U.S. Food and Drug Administration.
Perrone RD, Coons SJ, Cavanaugh K, Finkelstein F, Meyer KB
(2013) Am J Kidney Dis 62: 1046-57
MeSH Terms: Activities of Daily Living, Anemia, Cooperative Behavior, Endpoint Determination, Humans, Interdisciplinary Communication, Kidney Failure, Chronic, Nephrotic Syndrome, Patient Outcome Assessment, Patient Satisfaction, Polycystic Kidney, Autosomal Dominant, Quality of Life, Randomized Controlled Trials as Topic, United States, United States Food and Drug Administration
Added March 7, 2014
0 Communities
1 Members
0 Resources
15 MeSH Terms