Genomes and Genes
Experts and Doctors on kidney in Paris, Île de France, France
Locale: Paris, Île de France, France
Publications252 found, 100 shown here
- Salomon R, Tellier A, Attie Bitach T, Amiel J, Vekemans M, Lyonnet S, et al. PAX2 mutations in oligomeganephronia. Kidney Int. 2001;59:457-62 pubmed..None of these patients had visual impairment. Ocular anomaly and PAX2 mutations should be sought in all patients with OMN. ..
- Seixas C, Choi S, Polgar N, Umberger N, East M, Zuo X, et al. Arl13b and the exocyst interact synergistically in ciliogenesis. Mol Biol Cell. 2016;27:308-20 pubmed publisher..Taken together, our results indicate that Arl13b and the exocyst function together in the same pathway leading to functional cilia. ..
- Belmouden A, Le K, Lederer F, Garchon H. Molecular cloning and nucleotide sequence of cDNA encoding rat kidney long-chain L-2-hydroxy acid oxidase. Expression of the catalytically active recombinant protein as a chimaera. Eur J Biochem. 1993;214:17-25 pubmed..Comparative tryptic proteolysis of the rat kidney enzyme yielded a form cleaved in the same loop. ..
- Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997;15:157-64 pubmed..In the developing kidney, the expression pattern is indicative of a role for Eya1 in the metanephric cells surrounding the 'just-divided' ureteric branches. ..
- Potula H, Richer L, Werts C, Gomes Solecki M. Pre-treatment with Lactobacillus plantarum prevents severe pathogenesis in mice infected with Leptospira interrogans and may be associated with recruitment of myeloid cells. PLoS Negl Trop Dis. 2017;11:e0005870 pubmed publisher..plantarum. ..
- Heidet L, Borza D, Jouin M, Sich M, Mattei M, Sado Y, et al. A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice. Am J Pathol. 2003;163:1633-44 pubmed..This line of mice, humanized for the alpha3(IV) collagen chain, will also provide a valuable model for studying the pathogenesis of Goodpasture syndrome, an autoimmune disease caused by antibodies against this chain...
- Delaloy C, Lu J, Houot A, Disse Nicodeme S, Gasc J, Corvol P, et al. Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform. Mol Cell Biol. 2003;23:9208-21 pubmed..Thus, control of human WNK1 gene expression of kinase-active or -deficient isoforms is mediated predominantly through the use of multiple transcription initiation sites and tissue-specific regulatory elements. ..
- Boutouyrie P, Gimenez Roqueplo A, Fine E, Laloux B, Fiquet Kempf B, Plouin P, et al. Evidence for carotid and radial artery wall subclinical lesions in renal fibromuscular dysplasia. J Hypertens. 2003;21:2287-95 pubmed..These data indicate the presence of subclinical lesions at arterial sites distant from the renal arteries, suggesting that renal FD is not a focal but a systemic arterial disease. ..
- Gbahou F, Vincent L, Humbert Claude M, Tardivel Lacombe J, Chabret C, Arrang J. Compared pharmacology of human histamine H3 and H4 receptors: structure-activity relationships of histamine derivatives. Br J Pharmacol. 2006;147:744-54 pubmed
- Izzedine H, Tankere F, Launay Vacher V, Deray G. Ear and kidney syndromes: molecular versus clinical approach. Kidney Int. 2004;65:369-85 pubmed..Here, we describe ear and kidney clinical syndromes and their molecular expression. ..
- Bankir L, Yang B. New insights into urea and glucose handling by the kidney, and the urine concentrating mechanism. Kidney Int. 2012;81:1179-98 pubmed publisher..These hypotheses are all based on published findings. They may not all be confirmed later on, but we hope they will stimulate further research in new directions. ..
- Kempf H, Corvol P, Gasc J. Expression of the chicken angiotensin II receptor: atypical pattern compared to its mammalian homologues. Mech Dev. 1999;84:177-80 pubmed
- Laclef C, Souil E, Demignon J, Maire P. Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. Mech Dev. 2003;120:669-79 pubmed..Pax gene mutations also lead to comparable phenotypes, suggesting that a regulatory network including the Pax, Six and Eya genes is required for several types of organogenesis in mammals. ..
- Cosson M, Touati G, Lacaille F, Valayannnopoulos V, Guyot C, Guest G, et al. Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria. Mol Genet Metab. 2008;95:107-9 pubmed publisher..Mitochondrial dysfunction and/or post-transplant immunosuppressive therapy should be considered as a possible cause of liver cancer in this patient. ..
- Prie D, Torres P, Friedlander G. Phosphate handling: new genes, new molecules. Horm Res Paediatr. 2011;76 Suppl 1:71-5 pubmed publisher..This progress may allow development of new drugs that interfere with phosphate transporters, hormonal receptors or associated proteins to improve treatment and to help prevent secondary hyperparathyroidism. ..
- Levy Favatier F, Cuisset L, Nedelec B, Tichonicky L, Kruh J, Delpech M. Characterization, purification and cDNA cloning of a rat perchloric-acid-soluble 23-kDa protein present only in liver and kidney. Eur J Biochem. 1993;212:665-73 pubmed..Zoo-blot analysis at medium stringency strongly suggests that the gene has been conserved during evolution. The amino-acid sequence of this protein with a highly conserved region is similar to that of a heat-shock protein. ..
- Dureau P, Attie Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, et al. Renal coloboma syndrome. Ophthalmology. 2001;108:1912-6 pubmed..Conversely, renal hypoplasia stimulates the nephrologist to ask for a fundus examination to confirm the diagnosis and check for complications such as retinal detachment. ..
- Lelongt B, Ronco P. Role of matrix metalloproteinases in kidney development and glomerulopathy: lessons from transgenic mice. Nephrol Dial Transplant. 2002;17 Suppl 9:28-31 pubmed
- Bellanne Chantelot C, Chauveau D, Gautier J, Dubois Laforgue D, Clauin S, Beaufils S, et al. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med. 2004;140:510-7 pubmed
- Robyr R, Benachi A, Daïkha Dahmane F, Martinovich J, Dumez Y, Ville Y. Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy. Ultrasound Obstet Gynecol. 2005;25:478-82 pubmed..The size of the bladder and the presence of hydronephrosis should be considered in order to improve prenatal diagnosis and counseling. ..
- Sabaa N, De Franceschi L, Bonnin P, Castier Y, Malpeli G, Debbabi H, et al. Endothelin receptor antagonism prevents hypoxia-induced mortality and morbidity in a mouse model of sickle-cell disease. J Clin Invest. 2008;118:1924-33 pubmed publisher..These findings in mice suggest that ETRA could be a potential new therapy for SCD, as it may prevent acute VOC and limit organ damage in sickle-cell patients. ..
- Thibault F, Izzedine H, Sultan V, Bart S, Billemont B, Rixe O, et al. [Regression of vena cava tumour thrombus in response to sorafenib]. Prog Urol. 2008;18:480-2 pubmed publisher..This case report justifies a review of the place of anti-angiogenic therapy in the treatment of kidney cancer. ..
- Delaloy C, Elvira Matelot E, Clemessy M, Zhou X, Imbert Teboul M, Houot A, et al. Deletion of WNK1 first intron results in misregulation of both isoforms in renal and extrarenal tissues. Hypertension. 2008;52:1149-54 pubmed publisher..These results provide the first insight into the molecular mechanisms of WNK1-induced familial hyperkalemic hypertension. ..
- Martinovic Bouriel J, Benachi A, Bonniere M, Brahimi N, Esculpavit C, Morichon N, et al. PAX2 mutations in fetal renal hypodysplasia. Am J Med Genet A. 2010;152A:830-5 pubmed publisher..To the best of our knowledge, our first patient represents an unreported fetal diagnosis of papillorenal syndrome, and another example of the impact of oriented fetopathological examination in genetic counseling of the parents. ..
- El Karoui K, Vuiblet V, Dion D, Izzedine H, Guitard J, Frimat L, et al. Renal involvement in Castleman disease. Nephrol Dial Transplant. 2011;26:599-609 pubmed publisher..Small-vessel lesions are the most frequent renal involvement in CD, whereas loss of glomerular VEGF is correlated with CD activity and could have a role in SVL pathophysiology. ..
- Perrault I, Halbritter J, Porath J, Gerard X, Braun D, Gee H, et al. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. J Med Genet. 2015;52:657-65 pubmed publisher..Our data further suggest that defects in the IFT-B core are an exceedingly rare finding, probably due to its indispensable role for ciliary assembly in development. ..
- Grampa V, Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, et al. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. PLoS Genet. 2016;12:e1005894 pubmed publisher..Altogether, our study demonstrates that NEK8 human mutations cause major organ developmental defects due to altered ciliogenesis and cell differentiation/proliferation through deregulation of the Hippo pathway. ..
- Kavvadas P, Abed A, Poulain C, Authier F, Labéjof L, Calmont A, et al. Decreased Expression of Connexin 43 Blunts the Progression of Experimental GN. J Am Soc Nephrol. 2017;28:2915-2930 pubmed publisher..Given that this protein is highly induced in individuals with glomerular diseases, connexin 43 may be a novel target for therapeutic treatment of GN. ..
- Abboud H, Labreuche J, Duyckaerts C, Hauw J, Amarenco P. Prevalence of nephroangiosclerosis in patients with fatal stroke. Neurology. 2009;72:899-904 pubmed publisher..Glomerular filtration rate and decline in renal function can be improved by global cardiovascular prevention. However, the prevalence of nephroangiosclerosis in patients with stroke is unknown...
- Paces Fessy M, Fabre M, Lesaulnier C, Cereghini S. Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis. Hum Mol Genet. 2012;21:3143-55 pubmed publisher..This mouse model should provide new insights into the pathogenic mechanisms of human CAKUT, the most frequent developmental defect identified in newborns. ..
- Bataille A, Galichon P, Wetzstein M, Legouis D, Vandermeersch S, Rondeau E, et al. Evaluation of the ability of bone marrow derived cells to engraft the kidney and promote renal tubular regeneration in mice following exposure to cisplatin. Ren Fail. 2016;38:521-9 pubmed publisher..However, neither cell therapy protected the animals against cisplatin-induced death. We therefore question the short-term efficacy of bone marrow derived cells used to repair established injuries of the tubular epithelium. ..
- Nazir S, Gadi I, Al Dabet M, ElWakiel A, Kohli S, Ghosh S, et al. Cytoprotective activated protein C averts Nlrp3 inflammasome-induced ischemia-reperfusion injury via mTORC1 inhibition. Blood. 2017;130:2664-2677 pubmed publisher..These studies reveal that aPC protects from IRI by restricting mTORC1-dependent inflammasome activation and that mimicking biased aPC PAR-1 signaling using parmodulins may be a feasible therapeutic approach to combat IRI. ..
- Tournade H, Pelletier L, Pasquier R, Vial M, Mandet C, Druet P. Graft-versus-host reactions in the rat mimic toxin-induced autoimmunity. Clin Exp Immunol. 1990;81:334-8 pubmed..These findings are in agreement with the prediction that immune dysregulation induced by drugs leads to GVH-like reactions either stimulatory or suppressive depending upon the strain tested. ..
- Kempf H, Le Moullec J, Corvol P, Gasc J. Molecular cloning, expression and tissue distribution of a chicken angiotensin II receptor. FEBS Lett. 1996;399:198-202 pubmed..The AngII receptor mRNA is expressed in classical target organs for AngII (adrenal gland, heart, kidney) and, interestingly, in endothelial cells where it may mediate the peculiar vasorelaxation effect of AngII in the chicken. ..
- Attie Bitach T, Abitbol M, Gerard M, Delezoide A, Auge J, Pelet A, et al. Expression of the RET proto-oncogene in human embryos. Am J Med Genet. 1998;80:481-6 pubmed..e., multiple endocrine neoplasia syndromes and Hirschsprung disease). ..
- Pietri L, Bloch Faure M, Belair M, Sanford L, Doetschman T, Ménard J, et al. Altered renin synthesis and secretion in the kidneys of heterozygous mice with a null mutation in the TGF-beta(2) gene. Exp Nephrol. 2002;10:374-82 pubmed..These data suggest that TGF-beta(2) exerts an inhibitory effect on renin synthesis and release from the juxtaglomerular apparatuses. ..
- Bruneval P, Bariety J, Belair M, Mandet C, Heudes D, Nicoletti A. Mesangial expansion associated with glomerular endothelial cell activation and macrophage recruitment is developing in hyperlipidaemic apoE null mice. Nephrol Dial Transplant. 2002;17:2099-107 pubmed..In apoE null mice, severe hyperlipidaemia leads to glomerular injury characterized by glomerular endothelial cell activation and macrophage recruitment. ..
- Gavet O, Alvarez C, Gaspar P, Bornens M. Centrin4p, a novel mammalian centrin specifically expressed in ciliated cells. Mol Biol Cell. 2003;14:1818-34 pubmed..Together, our present data suggest that centrin4p could be more specifically involved in basal bodies assembly or in a subsequent step of ciliogenesis. ..
- Hinzpeter A, Lipecka J, Brouillard F, Baudoin Legros M, Dadlez M, Edelman A, et al. Association between Hsp90 and the ClC-2 chloride channel upregulates channel function. Am J Physiol Cell Physiol. 2006;290:C45-56 pubmed..This association may have important pathophysiological consequences, enabling increased ClC-2 activity in response to cellular stresses such as elevated temperature, ischemia, or oxidative reagents. ..
- Pelle G, Xu Y, Khoury N, Mougenot B, Rondeau E. Thrombotic microangiopathy in marginal kidneys after sirolimus use. Am J Kidney Dis. 2005;46:1124-8 pubmed..The risk for such a vascular complication should be kept in mind in patients who receive marginal kidneys and are administered sirolimus, even when sirolimus is used without CNIs. ..
- Allory Y, Commo F, Boccon Gibod L, Sibony M, Callard P, Ronco P, et al. Sulfated HNK-1 epitope in developing and mature kidney: a new marker for thin ascending loop of Henle and tubular injury in acute tubular necrosis. J Histochem Cytochem. 2006;54:575-84 pubmed..These data suggest that molecules carrying the sulfated HNK-1 carbohydrate epitope may play an important role in critical stages of renal development and in the physiology of thin ascending loop of Henle. ..
- Germain D, Waldek S, Banikazemi M, Bushinsky D, Charrow J, Desnick R, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007;18:1547-57 pubmed..Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types. ..
- Hill G, Nochy D. Antiphospholipid syndrome in systemic lupus erythematosus. J Am Soc Nephrol. 2007;18:2461-4 pubmed
- Haymann J, Stankovic K, Levy P, Avellino V, Tharaux P, Letavernier E, et al. Glomerular hyperfiltration in adult sickle cell anemia: a frequent hemolysis associated feature. Clin J Am Soc Nephrol. 2010;5:756-61 pubmed publisher..54). Together, the data suggest that the pathophysiology of hyperfiltration would rather be attributable to the hemolysis-associated vasculopathy rather than a viscosity-vaso-occlusive process. ..
- Boulos N, Helle F, Dussaule J, Placier S, Milliez P, Djudjaj S, et al. Notch3 is essential for regulation of the renal vascular tone. Hypertension. 2011;57:1176-82 pubmed publisher..A deficiency in the expression of Notch3 could have important physiopathological consequences in the adaptation of the cardiac and renal function to chronic increase of blood pressure. ..
- Hu H, Batteux F, Chereau C, Kavian N, Marut W, Gobeaux C, et al. Clopidogrel protects from cell apoptosis and oxidative damage in a mouse model of renal ischaemia-reperfusion injury. J Pathol. 2011;225:265-75 pubmed publisher..Thus, clopidogrel exerts protective effects on renal IRI in mice by abrogating renal cell apoptosis as a consequence of improved renal antioxidant capacity and could be tried as a novel therapeutic tool in renal IRI. ..
- Fischer E, Mougenot B, Callard P, Ronco P, Rossert J. Abnormal expression of glomerular basement membrane laminins in membranous glomerulonephritis. Nephrol Dial Transplant. 2000;15:1956-64 pubmed..Analysis of mice harbouring a null mutation in the gene encoding the beta 2 chain of laminin has suggested that the presence of abnormal laminin chains within the GBM can be responsible for proteinuria...
- Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, et al. New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. J Med Genet. 2007;44:e70 pubmed..The finding that the Q293H mutant does not form functional channels in the membrane could be explained either by disruption of channel conductance or gating mechanisms or by improper trafficking of the protein to the plasma membrane. ..
- Le Quintrec M, Lionet A, Kamar N, Karras A, Barbier S, Buchler M, et al. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. Am J Transplant. 2008;8:1694-701 pubmed publisher..These results suggest that genetic abnormalities may represent risk factors for de novo TMA after kidney transplantation and raise the question of the best therapeutic strategy. ..
- Heidet L, Decramer S, Pawtowski A, Moriniere V, Bandin F, Knebelmann B, et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol. 2010;5:1079-90 pubmed publisher..This large series showed that the severity of the renal disease associated with HNF1B mutations was extremely variable (from prenatal renal failure to normal renal function in adulthood) and was not correlated with the genotype. ..
- Hubert C, Gasc J, Berger S, Schutz G, Corvol P. Effects of mineralocorticoid receptor gene disruption on the components of the renin-angiotensin system in 8-day-old mice. Mol Endocrinol. 1999;13:297-306 pubmed..Angiotensinogen and AT1 in the liver are also increased, but the other elements of the RAS are not affected. ..
- Fuchs S, Germain S, Philippe J, Corvol P, Pinet F. Expression of renin in large arteries outside the kidney revealed by human renin promoter/LacZ transgenic mouse. Am J Pathol. 2002;161:717-25 pubmed..Therefore, this strain is a suitable model to investigate renin gene pathophysiological regulations in vivo. ..
- Boute N, Boubekeur S, Lacasa D, Issad T. Dynamics of the interaction between the insulin receptor and protein tyrosine-phosphatase 1B in living cells. EMBO Rep. 2003;4:313-9 pubmed..Therefore, localization of PTP1B in this compartment might be important for the regulation of insulin receptors during their biosynthesis. ..
- Bermudez H, Guillonneau B, Gupta R, Adorno Rosa J, Cathelineau X, Fromont G, et al. Initial experience in laparoscopic partial nephrectomy for renal tumor with clamping of renal vessels. J Endourol. 2003;17:373-8 pubmed
- Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, et al. Functional proteomics mapping of a human signaling pathway. Genome Res. 2004;14:1324-32 pubmed..Functional assays performed in mammalian cells including siRNA knock-down experiments identified eight novel proteins involved in Smad signaling, thus validating this integrated functional proteomics approach. ..
- Meas Yedid V, Servais A, Noel L, Panterne C, Landais P, Hervé N, et al. New computerized color image analysis for the quantification of interstitial fibrosis in renal transplantation. Transplantation. 2011;92:890-9 pubmed publisher..Finally, the computerized IF correlated with renal function. This study demonstrates that computerized color image analysis is a reliable and reproducible method to evaluate renal IF in routine practice and in multi-centric studies. ..
- Debiec H, Christensen E, Ronco P. The cell adhesion molecule L1 is developmentally regulated in the renal epithelium and is involved in kidney branching morphogenesis. J Cell Biol. 1998;143:2067-79 pubmed..These results suggest a functional role for L1 in CD development in vitro. We further postulate that L1 may be involved in the guidance of developing distal tubule and in generation and maintenance of specialized cell phenotypes in CD. ..
- Pallet N, Bouvier N, Bendjallabah A, Rabant M, Flinois J, Hertig A, et al. Cyclosporine-induced endoplasmic reticulum stress triggers tubular phenotypic changes and death. Am J Transplant. 2008;8:2283-96 pubmed publisher..Thus, we describe a novel mechanism that initiates dedifferentiation and tubular cell death upon cyclosporine treatment. These results provide an interesting framework for further nephroprotective therapies by targeting ER stress. ..
- Azizi M, Steichen O, Frank M, Bobrie G, Plouin P, Sapoval M. Catheter-based radiofrequency renal-nerve ablation in patients with resistant hypertension. Eur J Vasc Endovasc Surg. 2012;43:293-9 pubmed publisher..For the time being, the benefit/risk ratio of this technique remains to be evaluated, precluding its uncontrolled and widespread use in routine practice. ..
- Spaggiari E, Heidet L, Grange G, Guimiot F, Dreux S, Delezoide A, et al. Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers. Prenat Diagn. 2012;32:1071-6 pubmed publisher..We propose a prenatal management based on amniotic fluid volume monitoring and fetal serum ?2-microglobulin. However, our preliminary results have to be confirmed by a larger study. ..
- Cacoub P, Maisonobe T, Thibault V, Gatel A, Servan J, Musset L, et al. Systemic vasculitis in patients with hepatitis C. J Rheumatol. 2001;28:109-18 pubmed..e., polyarteritis nodosa or mixed cryoglobulinemia. Because of differences in clinical and pathological features and therapeutic strategy, PAN-type vasculitis should be distinguished from MC-type vasculitis in HCV patients. ..
- Le Menuet D, Isnard R, Bichara M, Viengchareun S, Muffat Joly M, Walker F, et al. Alteration of cardiac and renal functions in transgenic mice overexpressing human mineralocorticoid receptor. J Biol Chem. 2001;276:38911-20 pubmed..Altogether, TG exhibited specific alteration of renal and cardiac functions, thus providing useful pathophysiological models to gain new insights into the tissue-specific mineralocorticoid signaling pathways. ..
- Legallicier B, Trugnan G, Murphy G, Lelongt B, Ronco P. Expression of the type IV collagenase system during mouse kidney development and tubule segmentation. J Am Soc Nephrol. 2001;12:2358-69 pubmed..These results suggest that a regulated balance of gelatinase activity is required during kidney organogenesis and that gelatinases continue to play a role in adult renal tubule physiology. ..
- Khoury N, Minot G, Vigneau C, Vincent F, Allory Y, Tligui M, et al. An unusual presentation of renal failure. Nephrol Dial Transplant. 2002;17:679-81 pubmed
- Gresh L, Fischer E, Reimann A, Tanguy M, Garbay S, Shao X, et al. A transcriptional network in polycystic kidney disease. EMBO J. 2004;23:1657-68 pubmed..This may explain the increased proliferation of cystic cells in MODY5 patients carrying autosomal dominant mutations in HNF1beta. ..
- Mollet G, Silbermann F, Delous M, Salomon R, Antignac C, Saunier S. Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum Mol Genet. 2005;14:645-56 pubmed..These data suggest that nephrocystin and nephrocystin-4 belong to a multifunctional complex localized in actin- and microtubule-based structures involved in cell-cell and cell-matrix adhesion signaling as well as in cell division. ..
- Letavernier E, Perez J, Joye E, Bellocq A, Fouqueray B, Haymann J, et al. Peroxisome proliferator-activated receptor beta/delta exerts a strong protection from ischemic acute renal failure. J Am Soc Nephrol. 2005;16:2395-402 pubmed..These results point to PPARbeta/delta as a remarkable new target for preconditioning strategies. ..
- Pujo L, Fagart J, Gary F, Papadimitriou D, Claës A, Jeunemaitre X, et al. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007;28:33-40 pubmed..The other patients without MR mutations might have different diseases resembling to PHA1 in the neonatal period, which could be identified by extensive clinical and functional exploration...
- Huyet J, Pinon G, Fay M, Fagart J, Rafestin Oblin M. Structural basis of spirolactone recognition by the mineralocorticoid receptor. Mol Pharmacol. 2007;72:563-71 pubmed..Thus, the MR(S810L) structure may provide a powerful tool for designing new, more effective, MR antagonists. ..
- Billet S, Bardin S, Verp S, Baudrie V, Michaud A, Conchon S, et al. Gain-of-function mutant of angiotensin II receptor, type 1A, causes hypertension and cardiovascular fibrosis in mice. J Clin Invest. 2007;117:1914-25 pubmed
- Mancardi D, Iannascoli B, Hoos S, England P, Daëron M, Bruhns P. FcgammaRIV is a mouse IgE receptor that resembles macrophage FcepsilonRI in humans and promotes IgE-induced lung inflammation. J Clin Invest. 2008;118:3738-50 pubmed publisher..We therefore suggest that a similar cooperation may occur between mast cells and hFceRI-expressing lung cells in human allergic asthma. ..
- Bollée G, Patey N, Cazajous G, Robert C, Goujon J, Fakhouri F, et al. Thrombotic microangiopathy secondary to VEGF pathway inhibition by sunitinib. Nephrol Dial Transplant. 2009;24:682-5 pubmed publisher..The renin-angiotensin system blockers may be considered in patients with mild clinical manifestations and in the absence of therapeutic alternative to anti-VEGF drugs. ..
- Dussaule J, Guerrot D, Huby A, Chadjichristos C, Shweke N, Boffa J, et al. The role of cell plasticity in progression and reversal of renal fibrosis. Int J Exp Pathol. 2011;92:151-7 pubmed publisher..An additional factor that can also affect the mechanisms of progression/regression of fibrosis is the plasticity of podocytes controlling glomerular filtration. ..
- Imjeti N, Lebreton S, Paladino S, de la Fuente E, Gonzalez A, Zurzolo C. N-Glycosylation instead of cholesterol mediates oligomerization and apical sorting of GPI-APs in FRT cells. Mol Biol Cell. 2011;22:4621-34 pubmed publisher..One depends on cholesterol, and the other depends on N-glycosylation and is insensitive to cholesterol addition or depletion. ..
- Jouvion G, Brock M, Droin Bergère S, Ibrahim Granet O. Duality of liver and kidney lesions after systemic infection of immunosuppressed and immunocompetent mice with Aspergillus fumigatus. Virulence. 2012;3:43-50 pubmed publisher..Additionally, disease progressed much slower compared with the immunosuppressed condition. This is the first study underlying the duality between liver and renal tropism of A. fumigatus in relation to the immune status of the host. ..
- Louis Dit Picard H, Barc J, Trujillano D, Miserey Lenkei S, Bouatia Naji N, Pylypenko O, et al. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. Nat Genet. 2012;44:456-60, S1-3 pubmed publisher..Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure...
- Courbebaisse M, Diet C, Timsit M, Mamzer M, Thervet E, Noel L, et al. Effects of cinacalcet in renal transplant patients with hyperparathyroidism. Am J Nephrol. 2012;35:341-8 pubmed publisher..Despite sustained and marked hypercalciuria induced by cinacalcet treatment, cinacalcet does not have adverse effects on GFR or on renal graft calcium deposits in the first year following renal transplantation. ..
- Neves A, Mohammedi K, Emery N, Roussel R, Fumeron F, Marre M, et al. Allelic variations in superoxide dismutase-1 (SOD1) gene and renal and cardiovascular morbidity and mortality in type 2 diabetic subjects. Mol Genet Metab. 2012;106:359-65 pubmed publisher..71, 95% CI 1.16-2.48, p=0.007) and rs1041740 (HR 1.78, 95% CI 1.10-2.78, p=0.02). Our results are consistent with a major role for SOD1 in the mechanisms of cardiovascular protection against oxidative stress in type 2 diabetic subjects. ..
- Fourcade G, Colombo B, Gregoire S, Baeyens A, Rachdi L, Guez F, et al. Fetal pancreas transplants are dependent on prolactin for their development and prevent type 1 diabetes in syngeneic but not allogeneic mice. Diabetes. 2013;62:1646-55 pubmed publisher..This work suggests that FP transplantation as a therapeutic option of T1D needs to be further assessed and would require immunosuppressive treatment. ..
- Bruneval P, Fournier J, Soubrier F, Belair M, da Silva J, Guettier C, et al. Detection and localization of renin messenger RNA in human pathologic tissues using in situ hybridization. Am J Pathol. 1988;131:320-30 pubmed..In particular, smooth muscle cells of the wall of arterioles are definitely capable of synthesizing renin. Moreover, in these tissues, gene expression (renin synthesis) and renin storage are concordant. ..
- Lelongt B, Trugnan G, Murphy G, Ronco P. Matrix metalloproteinases MMP2 and MMP9 are produced in early stages of kidney morphogenesis but only MMP9 is required for renal organogenesis in vitro. J Cell Biol. 1997;136:1363-73 pubmed..These data provide the first demonstration of MMP9 and MMP2 production in vivo by 11-d embryonic kidneys and further show that MMP9 is required in vitro for branching morphogenesis of the ureter bud. ..
- Marijanovic Z, Ragimbeau J, Kumar K, Fuchs S, Pellegrini S. TYK2 activity promotes ligand-induced IFNAR1 proteolysis. Biochem J. 2006;397:31-8 pubmed..In the present study, we show that catalytic activation of Tyk2 is not essential for IFNAR1 internalization, but is required for ligand-induced IFNAR1 serine phosphorylation, ubiquitination and efficient lysosomal proteolysis. ..
- Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide A, Cereghini S. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet. 2006;15:2363-75 pubmed..This study provides evidence of differential gene-dosage requirements for HNF1beta in normal human kidney and pancreas differentiation and increases our understanding of the etiology of MODY5 disorder. ..
- Sethi S, Marie Agnes D, Thaker N, Hari P, Bagga A. Hemolytic uremic syndrome due to homozygous factor H deficiency. Clin Exp Nephrol. 2009;13:526-530 pubmed publisher..The patient showed progression to end-stage renal disease and is presently on chronic ambulatory peritoneal dialysis. ..
- Benoit G, Machuca E, Nevo F, Gribouval O, Lepage D, Antignac C. Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2010;25:445-51 pubmed publisher..Recessive CD2AP and ACTN4 mutations are rare in children with SRNS. The absence of mutations in this study suggests that there are other genetic causes of SRNS that still need to be identified. ..
- Venot M, Abboud I, Duboust A, Michel C, Suberbielle C, Verine J, et al. Calcineurin inhibitor-free monotherapy in human leukocyte antigen–identical live donor renal transplantation. Transplantation. 2011;91:330-3 pubmed