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pro vyhledávání: '"Birgit Lescher"'
Publikováno v:
Molecular and Cellular Neuroscience. 9:13-25
The naturally occurring mouse mutantTrembler(Tr) represents an animal model for inherited human neuropathies caused by point mutations affecting peripheral myelin protein 22 (PMP22). We describe the likely pathogenic cellular mechanism underlying the
Autor:
Edgar A. Otto, Cornelia Rensing, Silvia Schätzle, Friedhelm Hildebrandt, Birgit Lescher, Andreas Kispert
Publikováno v:
Scopus-Elsevier
Juvenile nephronophthisis, an autosomal recessive cystic kidney disease, is the primary genetic cause for chronic renal failure in children. The gene ( NPHP 1 ) for nephronophthisis type 1 has recently been identified. Its gene product, nephrocystin,
Publikováno v:
Developmental dynamics : an official publication of the American Association of Anatomists. 213(4)
Members of the Wnt family of secreted glycoproteins act as short-range signal- ing molecules in vertebrate embryogenesis. Previ- ous work has shown that Wnt-4 is required for kidney development. Mice lacking functional Wnt-4 fail to form pretubular c