(1997) Refsum Disease Is Caused by Mutation in the Phytanoyl-CoA Hydroxylase Gene, Nature Genet 17 , 190–193.Jansen GA, Ofman R, Ferdinandusse S, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. 1997;17:190–3....
Yes, kidney disease can caused by gene mutations passed from parent to child. If parents have a gene mutation -- or they're carriers of one -- there's a chance they could pass on the genes that could cause kidney disease in their child....
LONDON, Aug. 3 (Xinhua) -- A team of researchers has successfully corrected a disease-causing gene mutation in human embryos by using a gene-editing tool, stopping it from passing to future generations, according to a study published Wednesday in the journal Nature. The new method uses the ...
LOS ANGELES, Jan. 30 (Xinhua) -- U.S. scientists have identified how a gene mutation affects T cell function to promote immune disorders and then tested a treatment based on the discovery--successfully fixing donated immune cells from a 16-year-old boy with an abnormally low level of white...
et al. A human immunodeficiency caused by mutations in the PIK3R1 gene. J. Clin. Invest. 124, 3923–3928 (2014). CAS PubMed PubMed Central Google Scholar Angulo, I. et al. Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage. Science 342, ...
Researchers suppose that Goltz syndrome is caused by genetic mutations in the PORCN gene [40, 41] that is associated with a X-linked dominant condition, characteristic of female genetic predominance. The 6 cases were all females aged between 3 and 56 years old. Two of them were proved to ...
All cancers are caused by harmful mutations, or changes in DNA. Mutations in DNA happen regularly, but most of these changes are not harmful and do not cause cancer. The changes usually occur by chance; for example, when cells divide to produce new cells, a mistake in cell division could...
The point mutation identified in proband 420 is found in a highly conserved region of the second transmembrane domain of hABC-1 (41), suggesting that it may have functional importance. The charge difference caused by this substitution, uncharged to positive, could induce conformational alterations,...
This mutation was also reported by Tiede et al. (2005), who found the mutation in a patient with MLII. Patient with MLIIIC To confirm that MLIIIC is not caused by GNPTAB mutations, DNA from GM03392 (MLIIIC) fibroblasts was sequenced. No mutations in GNPTAB were found. This result ...
The MD value was also used to describe the overall amount of isotropic diffusion within brain tissue49, and its increasing might be caused by enlargement of extracellular space, suggesting degeneration of brain tissue50. However, towards the changes of white matter microstructure in PD, the ...