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21 results
  • EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome. [Journal Article]
    Ann Hum Genet. 2020 01; 84(1):80-86.Vojcek E, Keszthelyi TM, … Tory K
  • We report on a sibling pair with the EPG5 c.1007A > G mutation who developed a severe form of Vici syndrome and died in infancy. The c.1007A > G (p.Gln336Arg) mutation, affecting the penultimate nucleotide and the splicing of exon 2 is the most common mutation of EPG5 and is typically associated with a less devastating prognosis: cardiomyopathy and cataract are less frequent consequences and the …
  • The Zebrafish as an Emerging Model to Study DNA Damage in Aging, Cancer and Other Diseases. [Journal Article]
    Front Cell Dev Biol. 2018; 6:178.Cayuela ML, Claes KBM, … Mione MC
  • Cancer is a disease of the elderly, and old age is its largest risk factor. With age, DNA damage accumulates continuously, increasing the chance of malignant transformation. The zebrafish has emerged as an important vertebrate model to study these processes. Key mechanisms such as DNA damage responses and cellular senescence can be studied in zebrafish throughout its life course. In addition, the…
  • The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. [Review]
    Hum Mutat. 2018 12; 39(12):1854-1860.Mikó Á, K Menyhárd D, … Tory K
  • NPHS2, encoding podocin, is the major gene implicated in steroid-resistant nephrotic syndrome. Its c.686G>A, p.R229Q variant is the first human variant with a mutation-dependent pathogenicity; it is only pathogenic when trans-associated to specific mutations. Secondary to its high allele frequency in the European, South Asian, African, and Latino populations, its benign trans-associations can be …
  • Zebrafish Models of Rare Hereditary Pediatric Diseases. [Review]
    Diseases. 2018 May 22; 6(2)Varga M, Ralbovszki D, … Tory K
  • Recent advances in sequencing technologies have made it significantly easier to find the genetic roots of rare hereditary pediatric diseases. These novel methods are not panaceas, however, and they often give ambiguous results, highlighting multiple possible causative mutations in affected patients. Furthermore, even when the mapping results are unambiguous, the affected gene might be of unknown …
  • C-terminal oligomerization of podocin mediates interallelic interactions. [Journal Article]
    Biochim Biophys Acta Mol Basis Dis. 2018 Jul; 1864(7):2448-2457.Stráner P, Balogh E, … Tory K
  • Interallelic interactions of membrane proteins are not taken into account while evaluating the pathogenicity of sequence variants in autosomal recessive disorders. Podocin, a membrane-anchored component of the slit diaphragm, is encoded by NPHS2, the major gene mutated in hereditary podocytopathies. We formerly showed that its R229Q variant is only pathogenic when trans-associated to specific 3' …
  • Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. [Journal Article]
    J Biol Chem. 2018 03 16; 293(11):4122-4133.Serrano-Perez MC, Tilley FC, … Mollet G
  • Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene NPHS2 are a common cause of hereditary steroid-resistant nephrotic syndrome. A mutant allele encoding podocin with a p.R138Q amino acid substitution is the most frequent pathogenic variant in European and North American children, and the corresponding mutant protein is…
  • The expanding phenotypic spectra of kidney diseases: insights from genetic studies. [Review]
    Nat Rev Nephrol. 2016 08; 12(8):472-83.Stokman MF, Renkema KY, … van Eerde AM
  • Next-generation sequencing (NGS) has led to the identification of previously unrecognized phenotypes associated with classic kidney disease genes. In addition to improving diagnostics for genetically heterogeneous diseases and enabling a faster rate of gene discovery, NGS has enabled an expansion and redefinition of nephrogenetic disease categories. Findings from these studies raise the question …
  • SignaFish: A Zebrafish-Specific Signaling Pathway Resource. [Journal Article]
    Zebrafish. 2016 12; 13(6):541-544.Csályi K, Fazekas D, … Varga M
  • Understanding living systems requires an in-depth knowledge of the signaling networks that drive cellular homeostasis, regulate intercellular communication, and contribute to cell fates during development. Several resources exist to provide high-throughput data sets or manually curated interaction information from human or invertebrate model organisms. We previously developed SignaLink, a uniform…
  • Genomics in the renal clinic - translating nephrogenetics for clinical practice. [Journal Article]
    Hum Genomics. 2015 Jun 24; 9:13.Mallett A, Corney C, … Healy H
  • Genetic Renal Disease (GRD) presents to mainstream clinicians as a mixture of kidney-specific as well as multi-organ entities, many with highly variable phenotype-genotype relationships. The rapid increase in knowledge and reduced cost of sequencing translate to new and additional approaches to clinical care. Specifically, genomic technologies to test for known genes, the development of pathways …
  • From ureteric bud to the first glomeruli: genes, mediators, kidney alterations. [Review]
    Int Urol Nephrol. 2015 Jan; 47(1):109-16.Fanos V, Loddo C, … Faa G
  • The development of the mammalian kidney is a complex and in part unknown process which requires interactions between pluripotential/stem cells, undifferentiated mesenchymal cells, epithelial and mesenchymal components, eventually leading to the coordinate development of multiple different specialized epithelial, endothelial and stromal cell types within the kidney architectural complexity. We wil…
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