Results 241 to 250 of about 117,669 (273)

Hypomagnesemia: A Clinical and Nutritional Update. [PDF]

Curr Nutr Rep
Papagiannidou A, Mitropoulou M, Papantzikos K, Petropoulou D, Tsilingiris D, Magkos F, Dalamaga M.   +6 more
europepmc   +1 more source

Novel <i>RAD50</i> variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response. [PDF]

Front Endocrinol (Lausanne)
Gong Y, Jiang M, Wu S, Guo S, Lyu Y.
europepmc   +1 more source

Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders

Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders
openaire  

DNA Damage and Repair in Thyroid Physiology and Disease.

Endocr Rev
Arczewska KD, Sys D, Nilsen HL, Piekiełko-Witkowska A.   +3 more
europepmc   +1 more source

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Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

DNA Repair, 2008
Laboratory diagnosis for DNA repair diseases has been performed in western Europe from the early seventies for xeroderma pigmentosum (XP) and from the mid-eighties for Cockayne syndrome (CS) and trichothiodystrophy (TTD). The combined data from the DNA repair diagnostic centres in France, (West) Germany, Italy, the Netherlands and the United Kingdom ...
Kleijer, Wim J, Laugel, Vincent, Berneburg, Mark, Nardo, Tiziana, Fawcett, Heather, Gratchev, Alexei, Jaspers, Nicolaas G J, Sarasin, Alain, Stefanini, Miria, Lehmann, Alan R   +9 more
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Response to environmental carcinogens in DNA-repair-deficient disorders

Toxicology, 2003
An increased mutation rate in human cells is a critical contributing factor for the development of malignancy. Many autosomal recessive genetic disorders are known, in which an increased mutation rate and predisposition for cancer can be attributed to a deficiency in DNA repair or associated processes.
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Heritable Radiosensitive and DNA Repair-Deficient Disorders in Man

1981
The deleterious effects of many environmental agents--ultraviolet (UV) light, ionizing radiation, and polycyclic aromatic hydrocarbons, to cite a few--are primarily attributed to their ability to react with, and thereby structurally modify the deoxyribonucleic acid (DNA) of the living cell1.
M. C. Paterson, N. T. Bech-Hansen, P. J. Smith   +2 more
openaire   +1 more source