scholarly journals Ectopic Mineralization in Fibroblast Cultures

1984 ◽  
Vol 47 (1) ◽  
pp. 43-55 ◽  
Author(s):  
Masayoshi KUMEGAWA ◽  
Masahiko HIRAMATSU ◽  
Toshihiko YAJIMA
Keyword(s):  
Fibroblast Cultures ◽  
Ectopic Mineralization

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.

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.

scholarly journals Disruption of Abcc6 Transporter in Zebrafish Causes Ocular Calcification and Cardiac Fibrosis

2020 ◽  
Vol 22 (1) ◽  
pp. 278
Author(s):  
Jianjian Sun ◽  
Peilu She ◽  
Xu Liu ◽  
Bangjun Gao ◽  
Daqin Jin ◽  
...  
Keyword(s):  
Vitamin K ◽  
Cardiac Fibrosis ◽  
Clinical Manifestations ◽  
Pseudoxanthoma Elasticum ◽  
Matrix Gla Protein ◽  
Ectopic Calcification ◽  
Transcription Activator ◽  
Multisystem Disorder ◽  
Ectopic Mineralization ◽  
Extensive Calcification

Pseudoxanthoma elasticum (PXE), caused by ABCC6/MRP6 mutation, is a heritable multisystem disorder in humans. The progressive clinical manifestations of PXE are accompanied by ectopic mineralization in various connective tissues. However, the pathomechanisms underlying the PXE multisystem disorder remains obscure, and effective treatment is currently available. In this study, we generated zebrafish abcc6a mutants using the transcription activator-like effector nuclease (TALEN) technique. In young adult zebrafish, abcc6a is expressed in the eyes, heart, intestine, and other tissues. abcc6a mutants exhibit extensive calcification in the ocular sclera and Bruch’s membrane, recapitulating part of the PXE manifestations. Mutations in abcc6a upregulate extracellular matrix (ECM) genes, leading to fibrotic heart with reduced cardiomyocyte number. We found that abcc6a mutation reduced levels of both vitamin K and pyrophosphate (PPi) in the serum and diverse tissues. Vitamin K administration increased the gamma-glutamyl carboxylated form of matrix gla protein (cMGP), alleviating ectopic calcification and fibrosis in vertebrae, eyes, and hearts. Our findings contribute to a comprehensive understanding of PXE pathophysiology from zebrafish models.

scholarly journals Antagonistic Effects of Interferon-γ and Interleukin-4 on Fibroblast Cultures.

1997 ◽  
Vol 109 (2) ◽  
pp. 158-162 ◽  
Author(s):  
Hervé Serpier ◽  
Philippe Gillery ◽  
Véronique Salmon-Ehr ◽  
Roselyne Garnotel ◽  
Nadine Georges ◽  
...  
Keyword(s):  
Interferon Γ ◽  
Interleukin 4 ◽  
Antagonistic Effects ◽  
Fibroblast Cultures
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