Search Results - "Torban, Elena"
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Planar cell polarity pathway in kidney development, function and disease
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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Planar cell polarity pathway regulates actin rearrangement, cell shape, motility, and nephrin distribution in podocytes
Published in American journal of physiology. Renal physiology (01-02-2011)“…Glomerular podocytes are highly polarized cells characterized by dynamic actin-based foot processes (FPs). Neighboring FPs form specialized junctions, slit…”
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Intrinsic tumor necrosis factor-α pathway is activated in a subset of patients with focal segmental glomerulosclerosis
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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Differential role of planar cell polarity gene Vangl2 in embryonic and adult mammalian kidneys
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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Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
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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Primary cilia and actin regulatory pathways in renal ciliopathies
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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Genetic interaction between members of the Vangl family causes neural tube defects in mice
Published in Proceedings of the National Academy of Sciences - PNAS (04-03-2008)“…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
Published in Current Topics in Developmental Biology (2012)“…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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Independent Mutations in Mouse Vangl2 That Cause Neural Tube Defects in Looptail Mice Impair Interaction with Members of the Dishevelled Family
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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Can Peer Review Be Kinder? Supportive Peer Review: A Re-Commitment to Kindness and a Call to Action
Published in Canadian journal of kidney health and disease (2022)“…Peer review aims to select articles for publication and to improve articles before publication. We believe that this process can be infused by kindness without…”
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Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways
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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Advancing Discovery Research in Nephrology in Canada: A Conference Report From the 2021 Molecules and Mechanisms Mediating Kidney Health and Disease (M3K) Scientific Meeting and Investigator Summit
Published in Canadian journal of kidney health and disease (01-01-2022)“…Purpose of conference: New discoveries arising from investigations into fundamental aspects of kidney development and function in health and disease are…”
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PAX2 Activates WNT4 Expression during Mammalian Kidney Development
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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Plasma from a case of recurrent idiopathic FSGS perturbs non-muscle myosin IIA (MYH9 protein) in human podocytes
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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Hes6 Promotes Cortical Neurogenesis and Inhibits Hes1 Transcription Repression Activity by Multiple Mechanisms
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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Recurrent Focal Segmental Glomerulosclerosis: A Discrete Clinical Entity
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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Tissue, cellular and sub-cellular localization of the Vangl2 protein during embryonic development: Effect of the Lp mutation
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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The Wilms’ Tumor Suppressor Gene (wt1) Product Regulates Dax-1 Gene Expression during Gonadal Differentiation
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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The CPLANE Protein Fuzzy Regulates Primary Ciliogenesis Through Actin Remodeling: FR-PO582
Published in Journal of the American Society of Nephrology (01-11-2023)Get full text
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Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness
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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