rdf:type |
|
lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2007-11-1
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pubmed:abstractText |
Recent years have witnessed an explosion of research into the molecular basis of glomerular disease resulting in nephrotic- range urinary protein leak using both human genetics and animal models. Löwik et al. describe the first case report of an early-onset nephrotic syndrome presenting in conjunction with a homozygous CD2AP mutation. These data demonstrate the convergence between basic and clinical approaches and their potential to transform our understanding of the pathogenetic mechanisms underlying human glomerular disease.
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pubmed:commentsCorrections |
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pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Nov
|
pubmed:issn |
0085-2538
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
72
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
1181-3
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pubmed:meshHeading |
pubmed-meshheading:17972907-Actins,
pubmed-meshheading:17972907-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:17972907-Amino Acid Sequence,
pubmed-meshheading:17972907-Animals,
pubmed-meshheading:17972907-Clinical Medicine,
pubmed-meshheading:17972907-Codon, Nonsense,
pubmed-meshheading:17972907-Cytoskeletal Proteins,
pubmed-meshheading:17972907-Homozygote,
pubmed-meshheading:17972907-Humans,
pubmed-meshheading:17972907-Kidney Glomerulus,
pubmed-meshheading:17972907-Mice,
pubmed-meshheading:17972907-Models, Biological,
pubmed-meshheading:17972907-Molecular Sequence Data,
pubmed-meshheading:17972907-Mutation,
pubmed-meshheading:17972907-Science,
pubmed-meshheading:17972907-Sequence Analysis, DNA
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pubmed:year |
2007
|
pubmed:articleTitle |
Basic science meets clinical medicine: identification of a CD2AP-deficient patient.
|
pubmed:affiliation |
Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
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pubmed:publicationType |
Journal Article,
Comment
|