It is further emphasized the need to investigate for markers of systemic lupus erythematosus in every case presenting as dyskeratosis congenita to establish the causal relationship between dyskeratosis congenita and systemic lupus erythematosus.doi:10.1016/j.injr.2012.04.013Manjusha Goel...
A. et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am. J. Hum. Genet. 82, 501–509 (2008). CAS PubMed PubMed Central Google Scholar Zhong, F. et al. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis...
leading to the activation of the DNA damage response (DDR). In humans, telomere dysfunction features in inherited diseases such as dyskeratosis congenita, which are characterized by defects in the regulation of telomere length.
Inherited Causes Certain inherited conditions can damage the stem cells and lead to aplastic anemia. Examples includeFanconi anemia, Shwachman-Diamond syndrome, dyskeratosis (DIS-ker-ah-TO-sis) congenita, and Diamond-Blackfan anemia. Source: National Heart, Lung, and Blood Institute, National Institute...
[87]. XL-HHS is caused by mutations in theDKC1gene (OMIM # 305000).DKC1is also involved in dyskeratosis congenital (DC), a syndrome characterized by bone marrow failure and a characteristic triad of abnormal skin pigmentation, oral leucoplakia and nail dystrophy [85,86]. In XL-HHS, ...
During DNA replication, DNA ligase is most active on the lagging strand. Explain.How does mutation in telomerase impact DNA replication in dyskeratosis congenita?Will the DNA replication process always create identical strands? Why or why not? What would the consequence of a mistake be?...
Despite decades of research, the extent to which human progerias resemble accelerated ageing is still unclear and highly debated. Understanding this connection will require the ongoing characterization of genetic pathways that influence the ageing proces
The first link between germline defects in telomere biology genes and human disease was made in 1999 when mutations in dyskerin (encoded by DKC1) resulting in very short telomeres were identified as the cause X-linked recessive dyskeratosis congenita (DC) [2,3]. DC, the prototypic TBD, is ...
Looking for online definition of TRF1 or what TRF1 stands for? TRF1 is listed in the World's most authoritative dictionary of abbreviations and acronyms
pseudouridylationH/ACA RNA-protein complexcrystal structuredyskeratosis congenitaNo abstract is available for this article.doi:10.1002/ajmg.c.30322John C CareyJohn Wiley & Sons, Ltd.American Journal of Medical Genetics Part C Seminars in Medical Genetics...