about
Podocin localizes in the kidney to the slit diaphragm areaExpression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney developmentWT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosisImmunolocalization of cystinosin, the protein defective in cystinosisGenotype-phenotype correlations in non-Finnish congenital nephrotic syndromeCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeIn vivo expression of putative LMX1B targets in nail-patella syndrome kidneysHeterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaMutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationA review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362XPodocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndromeWT1 and glomerular diseasesAngiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domainIntralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosisThe swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis.PAX2 mutations in oligomeganephronia.Crescentic glomerulonephritis in hyper IgD syndrome.Detection of apoptosis in kidney biopsies of patients with D+ hemolytic uremic syndrome.Hemolytic uremic syndrome in patients with Behçet's disease treated with cyclosporin A: report of 2 cases.Delayed renal failure with extensive mesangiolysis following bone marrow transplantation.Long-term (15-25 years) outcome of childhood hemolytic-uremic syndrome.Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilitySpectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.[Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive].INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.Pathogenesis of twin-twin transfusion syndrome: the renin-angiotensin system hypothesis.Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGSMosaicism of podocyte involvement is related to podocyte injury in females with Fabry diseaseImproving mutation screening in familial hematuric nephropathies through next generation sequencing.Renin biosynthesis by human tumoral juxtaglomerular cells. Evidences for a renin precursor.Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.WT1, a multiform protein. Contribution of genetic models to the understanding of its various functions.Nail-patella syndrome. Overview on clinical and molecular findings.Podocyte differentiation and hereditary proteinuria/nephrotic syndromes.Twin-to-twin transfusion syndrome. Role of the fetal renin-angiotensin system
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
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հետազոտող
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name
Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
@fr
Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
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Marie-Claire Gubler
@sl
P106
P21
P31
P496
0000-0002-3526-5661