[An atypical case of Werner syndrome: epigenetic control and DNA damage response alterations].
A case of adult progeria has been described. It has been suggested that this case is an atypical form of Werner syndrome with laminopathy--not WRN helicase-nuclease defect. During detailed studies of the patient's cells, epigenetic control and DNA damage response alterations were detected.
Smirnova
N V
NV
Spivak
N M
NM
Pleskach
N M
NM
Zherebtsov
S V
SV
Aksenov
N L
NL
Mikhel'son
V M
VM
D000328:Adult; D002478:Cells, Cultured; D004249:DNA Damage; D044127:Epigenesis, Genetic; D005090:Exodeoxyribonucleases / Q000235:genetics; D005347:Fibroblasts / Q000187:drug effects / Q000378:metabolism / Q000528:radiation effects / Q000648:ultrastructure; D005720:Gamma Rays; D006570:Heterochromatin / Q000302:isolation & purification / Q000378:metabolism / Q000648:ultrastructure; D006657:Histones / Q000378:metabolism; D006801:Humans; D006861:Hydrogen Peroxide / Q000494:pharmacology; D034904:Lamin Type A / Q000235:genetics*; D009154:Mutation; D053484:RecQ Helicases / Q000235:genetics; D014898:Werner Syndrome / Q000235:genetics* / Q000473:pathology*; D000071657:Werner Syndrome Helicase
C468783:H2AX protein, human; D006570:Heterochromatin; D006657:Histones; C494847:LMNA protein, human; D034904:Lamin Type A; D006861:Hydrogen Peroxide; D005090:Exodeoxyribonucleases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase