نتایج جستجو برای: cockayne syndrome

تعداد نتایج: 621994  

Journal: :Journal of neuropathology and experimental neurology 1985
R W Leech R A Brumback R H Miller F Otsuka R E Tarone J H Robbins

Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia. In order to study the inherited DNA-repair defect known to be present in cultured CS cells, a lymphoblastoid line was established from the younger sibling. Tissue culture studies revealed the line to have...

Journal: :Proceedings of the National Academy of Sciences 1997

2015
Jicun Wang-Michelitsch Thomas M. Michelitsch

Hutchinson–Gilford Progeria Syndrome, Werner syndrome, and Cockayne syndrome are three genetic disorders, in which the children have premature aging features. To understand the phenomena of premature aging, the similarity of aging features in the syndromes to that in normal aging is investigated. Although these syndromes have different genetic backgrounds, the patients all have abnormal structu...

Journal: :American journal of human genetics 2007
Nicolaas G J Jaspers Anja Raams Margherita Cirillo Silengo Nils Wijgers Laura J Niedernhofer Andria Rasile Robinson Giuseppina Giglia-Mari Deborah Hoogstraten Wim J Kleijer Jan H J Hoeijmakers Wim Vermeulen

Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucle...

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