Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome
Conclusions We report unpredictable atypical splicing in the COL4A5 gene in male patients with XLAS and reveal that renal prognosis differs significantly for patients with truncating versus nontruncating splicing abnormalities. Our results suggest that splicing modulation should be explored as a therapy for XLAS with truncating mutations. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Horinouchi, T., Nozu, K., Yamamura, T., Minamikawa, S., Omori, T., Nakanishi, K., Fujimura, J., Ashida, A., Kitamura, M., Kawano, M., Shimabukuro, W., Kitabayashi, C., Imafuku, A., Tamagaki, K., Kamei, K., Okamoto, K., Fujinaga, S., Oka, M., Igarashi, T., Tags: Clinical Research Source Type: research

C5b9 Formation on Endothelial Cells Reflects Complement Defects among Patients with Renal Thrombotic Microangiopathy and Severe Hypertension
Conclusions These observations point to complement defects as the key causative factor of ESRD and recurrent TMA after transplant in patients presenting with severe hypertension. Complement defects can be identified by measurements of complement activation on microvascular endothelial cells, which should substantially influence treatment and prognosis. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Timmermans, S. A. M. E. G., Abdul-Hamid, M. A., Potjewijd, J., Theunissen, R. O. M. F. I. H., Damoiseaux, J. G. M. C., Reutelingsperger, C. P., van Paassen, P., on behalf of the Limburg Renal Registry, Christiaans, Fung, Gelens, Kooman, Leunissen, Litjens Tags: Clinical Research Source Type: research

Early Proteinuria Lowering by Angiotensin-Converting Enzyme Inhibition Predicts Renal Survival in Children with CKD
Conclusions The early antiproteinuric effect of ACE inhibition is associated with long-term preservation of renal function in children with CKD. Proteinuria lowering should be considered an important target in the management of pediatric CKD. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: van den Belt, S. M., Heerspink, H. J. L., Gracchi, V., de Zeeuw, D., Wühl, E., Schaefer, F., on behalf of the ESCAPE Trial Group, Anarat, Bakkaloglu, Ozaltin, Peco-Antic, Querfeld, Gellermann, Sallay, Drozdz, Bonzel, Wingen, Zurowska, Balasz, Triv Tags: Clinical Research Source Type: research

The Prognostic Value of Histopathologic Lesions in Native Kidney Biopsy Specimens: Results from the Boston Kidney Biopsy Cohort Study
Conclusions Across a diverse group of kidney diseases, histopathologic lesions on kidney biopsy provide prognostic information, even after adjustment for proteinuria and eGFR. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Srivastava, A., Palsson, R., Kaze, A. D., Chen, M. E., Palacios, P., Sabbisetti, V., Betensky, R. A., Steinman, T. I., Thadhani, R. I., McMahon, G. M., Stillman, I. E., Rennke, H. G., Waikar, S. S. Tags: Clinical Research Source Type: research

Decline in Kidney Function among Apparently Healthy Young Adults at Risk of Mesoamerican Nephropathy
Conclusions Although Mesoamerican nephropathy is associated with agricultural work, other factors may also contribute to this disease. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Gonzalez-Quiroz, M., Smpokou, E.-T., Silverwood, R. J., Camacho, A., Faber, D., Garcia, B. L. R., Oomatia, A., Hill, M., Glaser, J., Le Blond, J., Wesseling, C., Aragon, A., Smeeth, L., Pearce, N., Nitsch, D., Caplin, B. Tags: Clinical Epidemiology Source Type: research

Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population
Conclusions The most significant association with childhood SSNS was detected in the HLA-DR/DQ region. Further HLA allele/haplotype analyses should enhance our understanding of molecular mechanisms underlying SSNS. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Jia, X., Horinouchi, T., Hitomi, Y., Shono, A., Khor, S.-S., Omae, Y., Kojima, K., Kawai, Y., Nagasaki, M., Kaku, Y., Okamoto, T., Ohwada, Y., Ohta, K., Okuda, Y., Fujimaru, R., Hatae, K., Kumagai, N., Sawanobori, E., Nakazato, H., Ohtsuka, Y., Nakanishi, Tags: Clinical Epidemiology Source Type: research

Failed Target Weight Achievement Associates with Short-Term Hospital Encounters among Individuals Receiving Maintenance Hemodialysis
Conclusions In the absence of objective measures of volume status, recurrent failure to achieve target weight is an easily identifiable clinical risk marker for impending hospital encounters among patients on hemodialysis. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Assimon, M. M., Wang, L., Flythe, J. E. Tags: Clinical Epidemiology Source Type: research

Dialysis versus Medical Management at Different Ages and Levels of Kidney Function in Veterans with Advanced CKD
Conclusions Provision of dialysis at higher levels of kidney function may extend survival for some older patients. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Kurella Tamura, M., Desai, M., Kapphahn, K. I., Thomas, I.-C., Asch, S. M., Chertow, G. M. Tags: Clinical Epidemiology Source Type: research

Mechanisms Underlying Increased TIMP2 and IGFBP7 Urinary Excretion in Experimental AKI
Conclusions AKI-induced urinary TIMP2/IGFBP7 elevations are not due to stress-induced gene transcription. Rather, increased filtration, decreased tubule reabsorption, and proximal tubule cell TIMP2/IGFBP7 urinary leakage seem to be the most likely mechanisms. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Johnson, A. C. M., Zager, R. A. Tags: Basic Research Source Type: research

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
Conclusions These findings support a cellular recessive mechanism for cyst formation in ADPKD caused primarily by inactivating constitutional and somatic mutations of PKD1 or PKD2 in kidney cyst epithelium. The potential interactions of these genes with other ciliopathy- and cancer-related genes to influence ADPKD severity merits further evaluation. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Tan, A. Y., Zhang, T., Michaeel, A., Blumenfeld, J., Liu, G., Zhang, W., Zhang, Z., Zhu, Y., Rennert, L., Martin, C., Xiang, J., Salvatore, S. P., Robinson, B. D., Kapur, S., Donahue, S., Bobb, W. O., Rennert, H. Tags: Basic Research Source Type: research

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
Conclusions Mutations in GAPVD1 and probably in ANKFY1 are novel monogenic causes of NS. The discovery of these genes implicates RAB5 regulation in the pathogenesis of human NS. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Hermle, T., Schneider, R., Schapiro, D., Braun, D. A., van der Ven, A. T., Warejko, J. K., Daga, A., Widmeier, E., Nakayama, M., Jobst-Schwan, T., Majmundar, A. J., Ashraf, S., Rao, J., Finn, L. S., Tasic, V., Hernandez, J. D., Bagga, A., Jalalah, S. M., Tags: Basic Research Source Type: research

The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes
Conclusions The ANLNR431C mutation causes multiple derangements in podocyte function through hyperactivation of PI3K/AKT/mTOR/p70S6K/Rac1 signaling. Our findings suggest that the benefits of calcineurin inhibition in FSGS may be due, in part, to the suppression of ANLN and mTOR. Moreover, these studies illustrate that rational therapeutic targets for familial FSGS can be identified through biochemical characterization of dysregulated podocyte phenotypes. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Hall, G., Lane, B. M., Khan, K., Pediaditakis, I., Xiao, J., Wu, G., Wang, L., Kovalik, M. E., Chryst-Stangl, M., Davis, E. E., Spurney, R. F., Gbadegesin, R. A. Tags: Basic Research Source Type: research

The Calcium-Dependent Protease Calpain-1 Links TRPC6 Activity to Podocyte Injury
Conclusions We elucidated a novel mechanism that links TRPC6 activity to calpain-1 activation and through Talin-1 loss and possibly, calcineurin activation, the podocyte injury characterizing FSGS. Therefore, calpain-1 and/or TRPC6 inhibition could be future therapeutic options to treat patients with FSGS or other podocytopathies. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Verheijden, K. A. T., Sonneveld, R., Bakker-van Bebber, M., Wetzels, J. F. M., van der Vlag, J., Nijenhuis, T. Tags: Basic Research Source Type: research

A Controlled Increase in Dietary Phosphate Elevates BP in Healthy Human Subjects
Conclusions Increased phosphate intake (controlled for sodium) significantly increases SBP, DBP, and PR in humans with normal renal function, in part, by increasing sympathoadrenergic activity. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Mohammad, J., Scanni, R., Bestmann, L., Hulter, H. N., Krapf, R. Tags: Basic Research Source Type: research

Region-Based Convolutional Neural Nets for Localization of Glomeruli in Trichrome-Stained Whole Kidney Sections
Conclusions This study presents a novel and robust application of convolutional neural nets for the localization of glomeruli in healthy and damaged trichrome-stained whole-renal section mounts and lays the groundwork for automated glomerular injury scoring. (Source: Journal of the American Society of Nephrology : JASN)
Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Bukowy, J. D., Dayton, A., Cloutier, D., Manis, A. D., Staruschenko, A., Lombard, J. H., Solberg Woods, L. C., Beard, D. A., Cowley, A. W. Tags: Basic Research Source Type: research