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  • 1
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Fraser syndrome is a recessive, multisystem disorder presenting with cryptophthalmos, syndactyly and renal defects and associated with loss-of-function mutations of the extracellular matrix protein FRAS1. Fras1 mutant mice have a blebbed phenotype characterized by intrauterine epithelial fragility ...
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects. Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous. ...
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 368 (1994), S. 750-753 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Normal and polycystic human kidney cells can be cultured as monolayers in vitro4'1, and when embedded in type-1 collagen, both cell types can be induced to form cysts with serum or forskolin8 or epidermal growth factor9. We report here that, when placed in a stationary suspension culture system ...
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 5 (1991), S. 88-93 
    ISSN: 1432-198X
    Keywords: Glomerular hemodynamic adaptations ; Renal mass reduction ; Chronic renal failure ; Glomerular capillary pressure ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Although experiments in the rat suggest that glomerular hemodynamic alterations following a reduction of renal mass may be implicated in the progression of chronic renal failure, we argue that the deleterious effects of similar adaptations in human renal disease are unproven. In the otherwise normal solitary kidney the supranormal glomerular filtration rate (GFR) remains stable over the longterm, and in early diabetic nephropathy which is also accompanied by hyperfiltration, renal deterioration cannot be dissociated from a rise in systemic blood pressure. In patients with miscellaneous renal diseases and a depressed basal GFR there is indirect evidence that hyperfiltration might occur in some of the remnant glomeruli. However, at present there is little conclusive evidence to indicate that therapies which might normalize glomerular hemodynamics, e.g., dietary protein restriction, have any effect on progression of renal disease, or that angiotensin converting-enzyme inhibitors, which lower glomerular capillary pressure, have any advantage over other antihypertensive agents which are equally efficacious in lowering systemic blood pressure.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 11 (1997), S. 373-376 
    ISSN: 1432-198X
    Keywords: Key words: Apert syndrome ; Kallmann syndrome ; Campomelic dysplasia ; Fanconi anaemia ; Renal-coloboma syndrome ; Simpson-Golabi-Behmel syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 12 (1998), S. 690-694 
    ISSN: 1432-198X
    Keywords: Key words: Gene expression ; Mutations ; Nephrogenesis ; Urinary obstruction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. In this short review I will highlight some of the ”molecular lesions” that occur in patients with malformations of the urinary tract in terms of: (1) aberrant gene expression in dysplastic and obstructed kidneys and (2) the effects of mutations and genetic polymorphisms on renal growth and response to injury. It is suggested that the prenatal obstruction of urinary flow transduces a signal which elicits a proliferative response in existing metanephric epithelia, with a concomitant block in new nephron formation and apoptosis of precursor cells. Understanding these processes may lead to the therapeutic modulation of disease. Secondly, I will review possible genetic influences in the generation of isolated (non-syndromic) renal malformations. In this respect, primary vesicoureteric reflux represents numerically the most important disorder, and the discovery of disease loci should facilitate early diagnosis and identification of asymptomatic carriers. It is possible that the apparent variable penetrance and expression of some familial renal malformations are the result of the action of modifying genes which act during kidney development or even after the nephrogenic period.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 7 (1993), S. 605-608 
    ISSN: 1432-198X
    Keywords: Genetically engineered kidneys ; Transgenic technology ; Post-natal gene transfer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We review the available methods of creating genetically engineered kidneys. These include transgenic technology to introduce novel genes or delete existing genes and methods of gene transfer into the post-natal or adult kidney. The use of such technology has provided insights into renal development and growth and created new animal models of human diseases. Although some of these techniques are of potential use for introducing therapeutically useful gene products into the diseased kidney, many problems remain to be solved before this aim is attained.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1573-7209
    Keywords: Endothelial precursors ; nephrogenesis ; Tie-1 ; VEGFR-1/Flt-1 ; VEGFR-2/Flk-1
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The adult kidney is highly vascular and receives about 20% of the cardiac output, yet the mode of development of the glomerular capillaries is not fully understood. At the inception of nephrogenesis the condensed metanephric mesenchyme contains no patent capillaries. However, in this current study we detected vascular endothelial growth factor (VEGF) mRNA and protein in uninduced mouse E11 metanephric mesenchyme and in cell lines from this tissue. Moreover, transcripts for receptor tyrosine kinases which are markers of endothelial precursors (VEGFR-1/Flt-1, VEGFR-2/Flk-1 and Tie-1) were expressed by the E11 mesenchyme. In transgenic mice, Tie1/LacZ-expressing cells were identified in E11 renal mesenchyme when patent vessels were absent. Moreover, a similar pattern of transgene expression was detected within intermediate mesoderm condensing to form metanephric mesenchyme. When Tie-1/LacZ E11 metanephroi were transplanted into the nephrogenic cortex of wild-type mice, transgene-expressing capillary loops were detected in glomeruli developing in donor tissue. In contrast, glomerular Tie-1/LacZ-positive vessels never developed in rudiments in organ culture. We postulate that endothelial precursors are present at the inception of the mouse nephrogenesis, and these differentiate and undergo morphogenesis into glomerular capillaries when experimental conditions resemble those found in the metanephros in vivo.
    Type of Medium: Electronic Resource
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