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Document type:
journal article 
Author(s):
Diderich, KE; Nicolaije, C; Priemel, M; Waarsing, JH; Day, JS; Brandt, RM; Schilling, AF; Botter, SM; Weinans, H; van der Horst, GT; Hoeijmakers, JH; van Leeuwen, JP 
Title:
Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice. 
Abstract:
Trichothiodystrophy (TTD) is a rare, autosomal recessive nucleotide excision repair (NER) disorder caused by mutations in components of the dual functional NER/basal transcription factor TFIIH. TTD mice, carrying a patient-based point mutation in the Xpd gene, strikingly resemble many features of the human syndrome and exhibit signs of premature aging. To examine to which extent TTD mice resemble the normal process of aging, we thoroughly investigated the bone phenotype. Here, we show that femal...    »
 
Journal title abbreviation:
Age (Dordr) 
Year:
2012 
Journal volume:
34 
Journal issue:
Pages contribution:
845-61 
Language:
eng 
Print-ISSN:
0161-9152 
TUM Institution:
Klinik und Poliklinik für Plastische Chirurgie und Handchirurgie