Spectral karyotyping of Werner syndrome fibroblast cultures

2000 ◽  
Vol 91 (1-4) ◽  
pp. 180-185 ◽  
Author(s):  
R. Melcher ◽  
R. von Golitschek ◽  
C. Steinlein ◽  
D. Schindler ◽  
H. Neitzel ◽  
...  
Keyword(s):  
Werner Syndrome ◽  
Spectral Karyotyping ◽  
Fibroblast Cultures

scholarly journals Cellular Werner Phenotypes in Mice Expressing a Putative Dominant-Negative Human WRN Gene

Genetics ◽  
2000 ◽  
Vol 154 (1) ◽  
pp. 357-362
Author(s):  
Lan Wang ◽  
Charles E Ogburn ◽  
Carol B Ware ◽  
Warren C Ladiges ◽  
Hagop Youssoufian ◽  
...  
Keyword(s):  
Mouse Model ◽  
Transgenic Mice ◽  
Werner Syndrome ◽  
Dominant Negative ◽  
Dominant Negative Mutation ◽  
Fibroblast Cultures ◽  
Age Related

Abstract Mutations at the Werner helicase locus (WRN) are responsible for the Werner syndrome (WS). WS patients prematurely develop an aged appearance and various age-related disorders. We have generated transgenic mice expressing human WRN with a putative dominant-negative mutation (K577M-WRN). Primary tail fibroblast cultures from K577M-WRN mice showed three characteristics of WS cells: hypersensitivity to 4-nitroquinoline-1-oxide (4NQO), reduced replicative potential, and reduced expression of the endogenous WRN protein. These data suggest that K577M-WRN mice may provide a novel mouse model for the WS.

Ultrastructure of Fibroblast Cultures, Lymphocytes, and Liver in Mucopolysaccharidoses Types I, II, III, IV, and VI.

1970 ◽  
Vol 28 ◽  
pp. 204-205
Author(s):  
George Hug ◽  
William K. Schubert ◽  
Shirley Soukup
Keyword(s):  
Lysosomal Enzyme ◽  
Apparent Lack ◽  
Fibroblast Cultures ◽  
Lysosomal Diseases ◽  
Disease Specificity ◽  
Deficient Activity

McKusick subdivided the syndrome of mucopolysaccharidoses into six types according to clinical, roentenographic, and genetic criteria and to the kind of mucopolysaccharide(s) excreted in the urine (1). Deficient activity of a lysosomal enzyme, (β-galactosidase, has recently been reported in types I, II and III of mucopolysaccharidoses as well as in generalized gangliosidosis (2). This apparent lack of disease specificity makes the enzymatic deficiency difficult to interpret. Nevertheless, the involvement of a lysosomal enzyme tends to characterize these disorders as lysosomal diseases.

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