dyskeratosis การใช้

• They have been implicated in some hereditary disorders, such as dyskeratosis congenita.
• Not to be confused with " dyskeratosis ".
• When she was a year old, Galena was diagnosed with dyskeratosis congenita of the HH variant.
• Another example is the haploinsufficiency of telomerase reverse transcriptase which leads to anticipation in autosomal dominant dyskeratosis congenita.
• Importantly, many modification enzymes are dysregulated and genetically mutated in many disease types . and dyskeratosis congenital.
• These mutations are also autosomal recessive with three specific single-nucleotide polymorphisms being recognized which result in dyskeratosis congenita.
• Dyskeratosis congenita is reticular skin pigmentation, nail degeneration, and leukoplakia on the mucous membranes associated with short telomeres.
• Telomere deficiency is often linked to aging, cancers and the conditions dyskeratosis congenita ( DKC ) and Cri du chat.
• Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia.
• Dyskeratosis congenita ( DC ) is a disease of the bone marrow that can be caused by some mutations in the telomerase subunits.
• Both upper respiratory tract disease and cutaneous dyskeratosis have caused precipitous population declines and die-offs across the entire range of this charismatic species.
• The H / ACA snoRNP has been implicated in the rare genetic disease dyskeratosis congenita ( DKC ) due to its affiliation with human telomerase.
• In contrary, inactivating mutations in both alleles of WRAP53? causes dyskeratosis congenita, indicating that this protein acts as tumor suppressor, rather than an oncogene.
• The curiously named Ernst, whose physical appearance suggests that she may be a teenage girl suffering from progeria or dyskeratosis congenita, became a student at the M-Day ".
• People born with a genetic disease called dyskeratosis congenita, which causes accelerated shortening of telomeres, die young, usually by middle age, most often as a result of complications from weakened immunity.
• "' Ayelet Yakira Galena "'& ndash; January 31, 2012 ) was born with a rare genetic disorder dyskeratosis congenita and was famous for the massive outpouring of support she attracted, including bone marrow drives . that led to finding 95 lifesaving matches.
• DKC ( dyskeratosis congenita ) patients are all characterized by the defective maintenance of telomeres leading to problems with stem cell regeneration . iPS cells derived from DKC cells with a mutated dyskerin ( DKC1 ) gene cannot assemble the hTERT / RNA complex and thus do not have functional telomerase.
• Mycosis fungoides, a type of skin lymphoma, may be a cause of PVA . The condition may also be caused by, associated with or accompany any of the following conditions or disorders : other skin lymphomas, dermatomyositis, lupus erythematosus, Rothmund-Thompson syndrome, Kindler syndrome, dyskeratosis congenita, and chronic radiodermatitis.