Search Results - "GOODYER, Paul"

Hypophosphatemic Rickets by Bitzan, Martin, Goodyer, Paul R.

“…Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences…”
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Unraveling the natural history of presymptomatic cystinuria by Tokhmafshan, Fatima, Goodyer, Paul R.

“…Servais et al. recently published clinical practice recommendations for the care of cystinuria patients. However, these guidelines were largely based on…”
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Tubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives by Münch, Johannes, Goodyer, Paul R., Wagner, Carsten A.

“…The tubular system of the kidneys is a complex series of morphologic and functional units orchestrating the content of tubular fluid as it flows along the…”
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Renal and Retinal Effects of Enalapril and Losartan in Type 1 Diabetes by Mauer, Michael, Zinman, Bernard, Gardiner, Robert, Suissa, Samy, Sinaiko, Alan, Strand, Trudy, Drummond, Keith, Donnelly, Sandra, Goodyer, Paul, Gubler, Marie Claire, Klein, Ronald

“…This study aimed to determine whether early administration of drugs that block the renin–angiotensin system slows the progression of change in glomerular…”
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Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis by Sentell, Zachary T, Nurcombe, Zachary W, Mougharbel, Lina, Anastasio, Natascia, Rivière, Jean-Baptiste, Babayeva, Sima, Goodyer, Paul R, Torban, Elena, Kitzler, Thomas M

“…Biallelic pathogenic variants in the gene CC2D2A cause a spectrum of ciliopathies, including Joubert and Meckel syndrome, which frequently involve the kidney;…”
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The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis by Brasell, Emma J, Chu, Lee Lee, Akpa, Murielle M, Eshkar-Oren, Idit, Alroy, Iris, Corsini, Rachel, Gilfix, Brian M, Yamanaka, Yojiro, Huertas, Pedro, Goodyer, Paul

“…Cystinosis is a rare disorder caused by recessive mutations of the CTNS gene. Current therapy decreases cystine accumulation, thus slowing organ deterioration…”
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A no-nonsense approach to hereditary kidney disease by Tokhmafshan, Fatima, Dickinson, Kyle, Akpa, Murielle M., Brasell, Emma, Huertas, Pedro, Goodyer, Paul R.

“…The advent of a new class of aminoglycosides with increased translational readthrough of nonsense mutations and reduced toxicity offers a new therapeutic…”
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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

“…Focal segmental glomerulosclerosis (FSGS) is frequently found in biopsies of patients with steroid resistant nephrotic syndrome (SRNS). The pathogenesis of…”
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Wilms Tumor Suppressor, WT1, Suppresses Epigenetic Silencing of the β-Catenin Gene by Akpa, Murielle M., Iglesias, Diana M., Chu, Lee Lee, Cybulsky, Marta, Bravi, Cristina, Goodyer, Paul R.

“…The mammalian kidney is derived from progenitor cells in intermediate mesoderm. During embryogenesis, progenitor cells expressing the Wilms tumor suppressor…”
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Use of genomic and functional analysis to characterize patients with steroid-resistant nephrotic syndrome by Kitzler, Thomas M., Kachurina, Nadezda, Bitzan, Martin M., Torban, Elena, Goodyer, Paul R.

“…Background Children with genetic causes of steroid-resistant nephrotic syndrome (SRNS) usually do well after renal transplantation, while some with idiopathic…”
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Wilms Tumor Suppressor, WT1, Cooperates with MicroRNA-26a and MicroRNA-101 to Suppress Translation of the Polycomb Protein, EZH2, in Mesenchymal Stem Cells by Akpa, Murielle M., Iglesias, Diana, Chu, LeeLee, Thiébaut, Antonin, Jentoft, Ida, Hammond, Leah, Torban, Elena, Goodyer, Paul R.

“…Hereditary forms of Wilms arise from developmentally arrested clones of renal progenitor cells with biallelic mutations of WT1; recently, it has been found…”
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Molecular determinants of WNT9b responsiveness in nephron progenitor cells by Dickinson, Kyle K, Hammond, Leah C, Karner, Courtney M, Hastie, Nicholas D, Carroll, Thomas J, Goodyer, Paul

“…Primed nephron progenitor cells (NPCs) appear in metanephric mesenchyme by E11.5 and differentiate in response to the inductive WNT9b signal from the ureteric…”
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Transition From Pediatric to Adult Nephrology Care: Program Report of a Single-Center Experience by Cybulsky, Andrey V., Cercena, Leonor, Goodyer, Paul R., Suri, Rita S.

“…Purpose of program: Adolescents and young adults with chronic disease face many personal and systemic barriers that may impede their successful transition from…”
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Canonical WNT signaling during kidney development by Iglesias, Diana M, Hueber, Pierre-Alain, Chu, LeeLee, Campbell, Robert, Patenaude, Anne-Marie, Dziarmaga, Alison J, Quinlan, Jacklyn, Mohamed, Othman, Dufort, Daniel, Goodyer, Paul R

“…The canonical WNT signaling pathway plays a crucial role in patterning of the embryo during development, but little is known about the specific developmental…”
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The History of Cystinosis: Lessons for Clinical Management by Goodyer, Paul

“…Cystinosis is a rare disorder, and, accordingly, progress on the understanding and treatment of this disease has been relatively slow. Although cystinosis was…”
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Suppression of ureteric bud apoptosis rescues nephron endowment and adult renal function in Pax2 mutant mice by DZIARMAGA, Alison, ECCLES, Michael, GOODYER, Paul

“…The molecular mechanisms that set congenital nephron number are unknown. However, humans with modest suboptimal nephron number may be at increased risk for…”
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T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease by Miller, Michelle M., Iglesias, Diana M., Zhang, Zhao, Corsini, Rachel, Chu, LeeLee, Murawski, Inga, Gupta, Indra, Somlo, Stefan, Germino, Gregory G., Goodyer, Paul R.

“…During murine kidney development, canonical WNT signaling is highly active in tubules until about embryonic days E16–E18. At this time, β-catenin…”
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Targeted Inactivation of EGF Receptor Inhibits Renal Collecting Duct Development and Function by ZHAO ZHANG, PASCUET, Elena, HUEBER, Pierre-Alain, CHU, Leelee, BICHET, Daniel G, LEE, Tang-Cheng, THREADGILL, David W, GOODYER, Paul

“…The ureteric bud (UB) expresses high levels of the EGF receptor (EGFR) during kidney development, but its function in this setting is unclear. Here, Egfr mRNA…”
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LGL1, a novel branching morphogen in developing kidney, is induced by retinoic acid by Quinlan, Jacklyn, Kaplan, Feige, Sweezey, Neil, Goodyer, Paul

“…Late-gestation lung protein 1 (LGL1) is a glycoprotein secreted by fetal lung mesenchyme that stimulates branching morphogenesis of the developing lung bud. We…”
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WNT/β-Catenin Signaling Is Required for Integration of CD24+ Renal Progenitor Cells into Glycerol-Damaged Adult Renal Tubules by Chu, LeeLee, Corsini, Rachel, Iglesias, Diana M., Zhang, Zhao, Goodyer, Paul

“…During development, nephron progenitor cells (NPC) are induced to differentiate by WNT9b signals from the ureteric bud. Although nephrogenesis ends in the…”
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