Search Results - "Torban, Elena"

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    Planar cell polarity pathway in kidney development, function and disease by Torban, Elena, Sokol, Sergei Y.

    Published in Nature reviews. Nephrology (01-06-2021)
    “…Planar cell polarity (PCP) refers to the coordinated orientation of cells in the tissue plane. Originally discovered and studied in Drosophila melanogaster ,…”
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    Journal Article
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    Planar cell polarity pathway regulates actin rearrangement, cell shape, motility, and nephrin distribution in podocytes by Babayeva, Sima, Zilber, Yulia, Torban, Elena

    “…Glomerular podocytes are highly polarized cells characterized by dynamic actin-based foot processes (FPs). Neighboring FPs form specialized junctions, slit…”
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    Journal Article
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    Intrinsic tumor necrosis factor-α pathway is activated in a subset of patients with focal segmental glomerulosclerosis by Chung, Chen-Fang, Kitzler, Thomas, Kachurina, Nadezda, Pessina, Katarina, Babayeva, Sima, Bitzan, Martin, Kaskel, Frederic, Colmegna, Ines, Alachkar, Nada, Goodyer, Paul, Cybulsky, Andrey V, Torban, Elena

    Published in PloS one (16-05-2019)
    “…Focal segmental glomerulosclerosis (FSGS) is frequently found in biopsies of patients with steroid resistant nephrotic syndrome (SRNS). The pathogenesis of…”
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    Journal Article
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    Differential role of planar cell polarity gene Vangl2 in embryonic and adult mammalian kidneys by Derish, Ida, Lee, Jeremy K H, Wong-King-Cheong, Melanie, Babayeva, Sima, Caplan, Jillian, Leung, Vicki, Shahinian, Chloe, Gravel, Michel, Deans, Michael R, Gros, Philippe, Torban, Elena

    Published in PloS one (23-03-2020)
    “…Planar cell polarity (PCP) pathway is crucial for tissue morphogenesis. Mutations in PCP genes cause multi-organ anomalies including dysplastic kidneys…”
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    Journal Article
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    Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis by Barrell, William B, Adel Al-Lami, Hadeel, Goos, Jacqueline A C, Swagemakers, Sigrid M A, van Dooren, Marieke, Torban, Elena, van der Spek, Peter J, Mathijssen, Irene M J, Liu, Karen J

    Published in European journal of human genetics : EJHG (01-03-2022)
    “…Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull…”
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    Journal Article
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    Primary cilia and actin regulatory pathways in renal ciliopathies by Kalot, Rita, Sentell, Zachary, Kitzler, Thomas M, Torban, Elena

    Published in Frontiers in Nephrology (Online) (16-01-2024)
    “…Ciliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs,…”
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    Journal Article
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    Genetic interaction between members of the Vangl family causes neural tube defects in mice by Torban, Elena, Patenaude, Anne-Marie, Leclerc, Severine, Rakowiecki, Staci, Gauthier, Susan, Andelfinger, Gregor, Epstein, Douglas J, Gros, Philippe

    “…Neural tube defects (NTDs) are very frequent congenital abnormalities in humans. Recently, we have documented independent association of Vangl1 and Vangl2 gene…”
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    An Expanding Role of Vangl Proteins in Embryonic Development by Torban, Elena, Iliescu, Alexandra, Gros, Philippe

    “…The mammalian Vangl1 and Vangl2 genes were discovered a decade ago through their association with neural tube defects, in particular the presence of Vangl2…”
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    Book Chapter Journal Article
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    Independent Mutations in Mouse Vangl2 That Cause Neural Tube Defects in Looptail Mice Impair Interaction with Members of the Dishevelled Family by Torban, Elena, Wang, Hui-Jun, Groulx, Normand, Gros, Philippe

    Published in The Journal of biological chemistry (10-12-2004)
    “…Mammalian Vangl1 and Vangl2 are highly conserved membrane proteins that have evolved from a single ancestral protein Strabismus/Van Gogh found in Drosophila …”
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    Journal Article
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    Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways by Wang, Irene-Yanran, Chung, Chen-Fang, Babayeva, Sima, Sogomonian, Tamara, Torban, Elena

    Published in Journal of developmental biology (23-12-2021)
    “…In vertebrates, the planar cell polarity (PCP) pathway regulates tissue morphogenesis during organogenesis, including the kidney. Mutations in human PCP…”
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    Journal Article
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    PAX2 Activates WNT4 Expression during Mammalian Kidney Development by Torban, Elena, Dziarmaga, Alison, Iglesias, Diana, Chu, Lee Lee, Vassilieva, Tatiana, Little, Melissa, Eccles, Michael, Discenza, Maria, Pelletier, Jerry, Goodyer, Paul

    Published in The Journal of biological chemistry (05-05-2006)
    “…The transcription factor PAX2 is expressed during normal kidney development and is thought to influence outgrowth and branching of the ureteric bud. Mice with…”
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    Journal Article
  14. 14

    Plasma from a case of recurrent idiopathic FSGS perturbs non-muscle myosin IIA (MYH9 protein) in human podocytes by Babayeva, Sima, Miller, Michelle, Zilber, Yulia, El Kares, Reyhan, Bernard, Chantale, Bitzan, Martin, Goodyer, Paul, Torban, Elena

    Published in Pediatric nephrology (Berlin, West) (01-07-2011)
    “…The MYH9 gene encodes a non-muscle myosin IIA heavy chain (NMMHC-IIA) expressed in podocytes. Heterozygous MYH9 mutations cause a set of overlapping syndromes…”
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    Journal Article
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    Hes6 Promotes Cortical Neurogenesis and Inhibits Hes1 Transcription Repression Activity by Multiple Mechanisms by Gratton, Michel-Olivier, Torban, Elena, Jasmin, Stephanie Belanger, Theriault, Francesca M., German, Michael S., Stifani, Stefano

    Published in Molecular and Cellular Biology (01-10-2003)
    “…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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  16. 16

    Recurrent Focal Segmental Glomerulosclerosis: A Discrete Clinical Entity by Torban, Elena, Goodyer, Paul, Bitzan, Martin

    Published in International Journal of Nephrology (01-01-2012)
    “…Focal segmental glomerulosclerosis refers to a set of particular histopathologic lesions in which steroid-resistant podocyte injury leads to patchy adhesions…”
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    Journal Article
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    Tissue, cellular and sub-cellular localization of the Vangl2 protein during embryonic development: Effect of the Lp mutation by Torban, Elena, Wang, Hui-Jun, Patenaude, Anne-Marie, Riccomagno, Martin, Daniels, Eugene, Epstein, Douglas, Gros, Philippe

    Published in Gene Expression Patterns (01-01-2007)
    “…Loop-tail ( Lp) mice show a very severe neural tube defect, craniorachischisis, which is caused by mis-sense mutations in the Vangl2 gene. The membrane protein…”
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    Journal Article
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    The Wilms’ Tumor Suppressor Gene (wt1) Product Regulates Dax-1 Gene Expression during Gonadal Differentiation by Kim, Jungho, Prawitt, Dirk, Bardeesy, Nabeel, Torban, Elena, Vicaner, Caroline, Goodyer, Paul, Zabel, Bernard, Pelletier, Jerry

    Published in Molecular and Cellular Biology (01-03-1999)
    “…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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    Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness by Rink, Nikki, Bitzan, Martin, O'Gorman, Gus, Nagel, Mato, Torban, Elena, Goodyer, Paul

    Published in Case reports in pediatrics (01-01-2012)
    “…Hereditary distal renal tubular acidosis (dRTA) is caused by mutations of genes encoding subunits of the H+-ATPase (ATP6V0A4 and ATP6V1B1) expressed in…”
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    Journal Article