Bienaimé, Frank Muorah, Mordi Yammine, Lucie Burtin, Martine Nguyen, Clément Baron, Willian Garbay, Serge Viau, Amandine Broueilh, Mélanie Blanc, Thomas
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Published in
Journal of the American Society of Nephrology : JASN
In CKD, tubular cells may be involved in the induction of interstitial fibrosis, which in turn, leads to loss of renal function. However, the molecular mechanisms that link tubular cells to the interstitial compartment are not clear. Activation of the Stat3 transcription factor has been reported in tubular cells after renal damage, and Stat3 has be...
Trepiccione, Francesco Gerber, Simon D Grahammer, Florian López-Cayuqueo, Karen I Baudrie, Véronique Păunescu, Teodor G Capen, Diane E Picard, Nicolas Alexander, R Todd Huber, Tobias B
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Published in
Journal of the American Society of Nephrology
ATPase H+-transporting lysosomal accessory protein 2 (Atp6ap2), also known as the (pro)renin receptor, is a type 1 transmembrane protein and an accessory subunit of the vacuolar H+-ATPase (V-ATPase) that may also function within the renin-angiotensin system. However, the contribution of Atp6ap2 to renin-angiotensin-dependent functions remains uncon...
Aboudehen, Karam Kim, Min Soo Mitsche, Matthew Garland, Kristina Anderson, Norma Noureddine, Lama Pontoglio, Marco Patel, Vishal Xie, Yang DeBose-Boyd, Russell
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Published in
Journal of the American Society of Nephrology : JASN
HNF-1β is a tissue-specific transcription factor that is expressed in the kidney and other epithelial organs. Humans with mutations in HNF-1β develop kidney cysts, and HNF-1β regulates the transcription of several cystic disease genes. However, the complete spectrum of HNF-1β-regulated genes and pathways is not known. Here, using chromatin immunopr...
Amrouche, Lucile Desbuissons, Geoffroy Rabant, Marion Sauvaget, Virginia Nguyen, Clément Benon, Aurélien Barre, Pauline Rabaté, Clémentine Lebreton, Xavier Gallazzini, Morgan
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Published in
Journal of the American Society of Nephrology
AKI leads to tubular injury and interstitial inflammation that must be controlled to avoid the development of fibrosis. We hypothesized that microRNAs are involved in the regulation of the balance between lesion formation and adaptive repair. We found that, under proinflammatory conditions, microRNA-146a (miR-146a) is transcriptionally upregulated ...
Korkmaz, E. Lipska-Zietkiewicz, B. S. Boyer, O. Gribouval, O. Fourrage, C. Tabatabaei, M. Schnaidt, S. Gucer, S. Kaymaz, F. Arici, M.
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Published in
Journal of the American Society of Nephrology
Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.9% among 534 consecutively screened cases. Patients with ADCK4 mut...
Kruzel-Davila, Etty Shemer, Revital Ofir, Ayala Bavli-Kertselli, Ira Darlyuk-Saadon, Ilona Oren-Giladi, Pazit Wasser, Walter G. Magen, Daniella Zaknoun, Eid Schuldiner, Maya
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Published in
Journal of the American Society of Nephrology
APOL1 harbors C-terminal sequence variants (G1 and G2), which account for much of the increased risk for kidney disease in sub-Saharan African ancestry populations. Expression of the risk variants has also been shown to cause injury to podocytes and other cell types, but the underlying mechanisms are not understood. We used Drosophila melanogaster ...
Andrzejewska, Zuzanna Nevo, Nathalie Thomas, Lucie Chhuon, Cerina Bailleux, Anne Chauvet, Véronique Courtoy, Pierre J Chol, Marie Guerrera, Ida Chiara Corinne Antignac
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Published in
Journal of the American Society of Nephrology
Cystinosis is a rare autosomal recessive storage disorder characterized by defective lysosomal efflux of cystine due to mutations in the CTNS gene encoding the lysosomal cystine transporter, cystinosin. Lysosomal cystine accumulation leads to crystal formation and functional impairment of multiple organs. Moreover, cystinosis is the most common inh...
Rabant, M. Amrouche, L. Lebreton, X. Aulagnon, F. Benon, A. Sauvaget, V. Bonifay, R. Morin, L. Scemla, A. Delville, M.
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Published in
Journal of the American Society of Nephrology
Urinary levels of C-X-C motif chemokine 9 (CXCL9) and CXCL10 can noninvasively diagnose T cell-mediated rejection (TCMR) of renal allografts. However, performance of these molecules as diagnostic/prognostic markers of antibody-mediated rejection (ABMR) is unknown. We investigated urinary CXCL9 and CXCL10 levels in a highly sensitized cohort of 244 ...
Corinne Antignac Calvet, J. P. Germino, G. G. Grantham, J. J. Guay-Woodford, L. M. Harris, P. C. Hildebrandt, F. Peters, D. J. M. Somlo, S. Torres, V. E.
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Published in
Journal of the American Society of Nephrology
Polycystic kidney disease (PKD) is one of the most common life-threatening genetic diseases. Jared J. Grantham, M.D., has done more than any other individual to promote PKD research around the world. However, despite decades of investigation there is still no approved therapy for PKD in the United States. In May 2014, the University of Kansas Medic...
Huynh Cong, Evelyne Bizet, Albane A Boyer, Olivia Woerner, Stéphanie Gribouval, Olivier Filhol, Emilie Arrondel, Christelle Thomas, Sophie Silbermann, Flora Canaud, Guillaume
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Published in
Journal of the American Society of Nephrology
Several genes, mainly involved in podocyte cytoskeleton regulation, have been implicated in familial forms of primary FSGS. We identified a homozygous missense mutation (p.P209L) in the TTC21B gene in seven families with FSGS. Mutations in this ciliary gene were previously reported to cause nephronophthisis, a chronic tubulointerstitial nephropathy...