Dyskeratosis congenita
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Dyskeratosis congenita Microchapters |
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Dyskeratosis congenita On the Web |
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Risk calculators and risk factors for Dyskeratosis congenita |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Synonyms and keywords: Zinsser-Cole-Engman syndrome; X-linked dyskeratosis congenita; Cole-Rauschkolb-Toomey syndrome; DKCX
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Dyskeratosis Congenita from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Recent research has used induced pluripotent stem cells to study the disease mechanisms in humans, and discovered that the repgrogramming of somatic cells restores telomere elongation in dyskeratosis congenita cells despite the genetic lesions that affect telomerase. The reprogrammed DC cells were able to overcome a critical limitation in TERC (Telomerase RNA component) levels and restored function (telomere maintenance and self-renewal). Therapeutically, methods aimed at increasing TERC expression could prove beneficial in DC patients. [1]
References
- ↑ Agarwal; et al. (2010). ": Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients". Nature. 464: 292–296. doi:10.1038/nature08792. PMID 20164838.
External links
- GeneReviews/NCBI/NIH/UW entry on Dyskeratosis Congenita
- Dyskeratosis Congenita research study of Inherited Bone Marrow Failure Syndromes (IBMFS)
Template:Congenital malformations and deformations of integument Template:X-linked disorders