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Dyskeratosis congenita and telomere biology disorders.
Savage SA. Savage SA. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. Hematology Am Soc Hematol Educ Program. 2022. PMID: 36485133 Free PMC article. Review.
Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biology disorders (TBDs) beyond the classic dyskeratosis congenita (DC) triad of nail dysplasia, abnormal skin pigmentation, and ora …
Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biolog …
Dyskeratosis congenita and telomerase.
Bessler M, Wilson DB, Mason PJ. Bessler M, et al. Curr Opin Pediatr. 2004 Feb;16(1):23-8. doi: 10.1097/00008480-200402000-00006. Curr Opin Pediatr. 2004. PMID: 14758110 Review.
Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA component of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene encoding dyskerin, a protein implicated in both telome …
Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA component of telomerase, hTERC …
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A, Dokal I. Marrone A, et al. Expert Rev Mol Med. 2004 Dec 20;6(26):1-23. doi: 10.1017/S1462399404008671. Expert Rev Mol Med. 2004. PMID: 15613268 Review.
Dyskeratosis congenita (DC) is a severe, inherited, bone marrow failure syndrome, with associated cutaneous and noncutaneous abnormalities. DC patients also show signs of premature ageing and have an increased occurrence of cancer. DC can originate through: (1 …
Dyskeratosis congenita (DC) is a severe, inherited, bone marrow failure syndrome, with associated cutaneous and noncutaneous a …
Dyskeratosis congenita: telomerase, telomeres and anticipation.
Marrone A, Walne A, Dokal I. Marrone A, et al. Curr Opin Genet Dev. 2005 Jun;15(3):249-57. doi: 10.1016/j.gde.2005.04.004. Curr Opin Genet Dev. 2005. PMID: 15917199 Review.
Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. The identification of dyskeratosis congenita gene 1 (DKC1) mutations in X-linked recessive patients initially suggested t …
Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. Th …
Dyskeratosis congenita: clinical report and review of the literature.
Baran I, Nalcaci R, Kocak M. Baran I, et al. Int J Dent Hyg. 2010 Feb;8(1):68-74. doi: 10.1111/j.1601-5037.2009.00364.x. Int J Dent Hyg. 2010. PMID: 20096085 Review.
Dyskeratosis congenita (DKC) is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nails dystrophy and skin pigmentation. Oral and dental abnormalities may also be present. Most cases are X-linked …
Dyskeratosis congenita (DKC) is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia o …
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ, Dokal I. Vulliamy TJ, et al. Biochimie. 2008 Jan;90(1):122-30. doi: 10.1016/j.biochi.2007.07.017. Epub 2007 Jul 31. Biochimie. 2008. PMID: 17825470 Review.
Dyskeratosis congenita is an inherited syndrome characterised by mucocutaneous features, bone marrow failure, an increased risk of malignancy and other somatic abnormalities. ...Heterozygous mutations in the RNA component of telomerase (TERC) cause the autosomal …
Dyskeratosis congenita is an inherited syndrome characterised by mucocutaneous features, bone marrow failure, an increased ris …
Pachyonychia congenita: a clinical study of 12 cases and review of the literature.
Su WP, Chun SI, Hammond DE, Gordon H. Su WP, et al. Pediatr Dermatol. 1990 Mar;7(1):33-8. doi: 10.1111/j.1525-1470.1990.tb01070.x. Pediatr Dermatol. 1990. PMID: 2140447 Review.
Twelve cases of pachyonychia congenita were reviewed. The mode of inheritance was autosomal dominant. The clinical features of these patients included thickened nails, hyperkeratosis of the palms and soles, thinning of hair or alopecia, painful bullae or ulce …
Twelve cases of pachyonychia congenita were reviewed. The mode of inheritance was autosomal dominant. The clinical feat …
[Segmental type 2 manifestation of autosome dominant skin diseases. Development of a new formal genetic concept].
Happle R. Happle R. Hautarzt. 2001 Apr;52(4):283-7. doi: 10.1007/s001050051309. Hautarzt. 2001. PMID: 11382117 Review. German.
The prevailing theory says that mosaic forms of autosomal dominant skin diseases originate from postzygotic new mutations. ...Autosomal dominant skin diseases exemplifying the concept of type 2 segmental manifestation so far include neurofibromatosis …
The prevailing theory says that mosaic forms of autosomal dominant skin diseases originate from postzygotic new mutations. ... …