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Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
Haematologica, 2012 Background Dyskeratosis congenita is a cancer-prone bone marrow failure syndrome caused by aberrations in telomere biology.Design and Methods We studied 65 patients with dyskeratosis congenita and 127 unaffected relatives. Telomere length was measured by
Blanche P. Alter +5 more
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New England Journal of Medicine, 2017 Abstract Dyskeratosis congenita (DC) is an inherited multisystem disorder that presents with characteristic mucocutaneous features and an inevitable bone marrow (BM) failure that is the main cause of mortality. The clinical presentation can vary widely in severity.
Daniel A, Kelmenson, Michael, Hanley
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The genetics of dyskeratosis congenita [PDF]
Cancer Genetics, 2011 Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome associated with characteristic mucocutaneous features and a variable series of other somatic abnormalities. The disease is heterogeneous at the genetic and clinical levels. Determination of the genetic basis of DC has established that the disease is caused by a number of genes ...
Philip J, Mason, Monica, Bessler
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GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells. [PDF]
PLoS ONE, 2015 Dyskeratosis congenita is an inherited disease caused by mutations in genes coding for telomeric components. It was previously reported that expression of a dyskerin-derived peptide, GSE24.2, increases telomerase activity, regulates gene expression and ...
Laura Iarriccio +6 more
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Dyskeratosis Congenita and Short Telomeres in a Female Patient
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2020 Dyskeratosis Congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease associated with maintenance of defects and early telomere shortening.
Virgínia Vinha Zanuncio +1 more
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Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
Journal of Medical Case Reports, 2009 Introduction Dyskeratosis congenita is a rare genodermatosis, characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes.
Boueiz Adel +4 more
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A case of dyskeratosis congenita with dorsal tongue erosion as the first manifestation [PDF]
Kouqiang yixueDyskeratosis congenita is a hereditary short telomere disease caused by mutations in telomerase-related genes. The classic clinical manifestations are oral leukoplakia, nail dystrophy, and skin pigmentation.
WANG Suli, WANG Wenxia
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Zinsser-Cole-Engman Syndrome: A Rare Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2016 Zinsser-Cole-Engmann syndrome also called Dyskeratosis Congenita (DKC) is a rare genodermatosis first described by Zinsser in 1906. Mutations in DKC1 gene is responsible for DKC.
Chaitanya Penmatsa +4 more
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ERRATUM: [Article Partial Retraction] Dyskeratosis congenita
Autopsy and Case Reports, 2022 Due to a desktop publishing error, the retraction notice added to article “Dyskeratosis congenita” (DOI https://doi.org/10.4322/acr.2020.203), published in Autops. Case Rep. 10 (3); 2020, was published with an error.
Autopsy and Case Reports
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Punctal and Canalicular Obstruction Associated with Dyskeratosis Congenita
Türk Oftalmoloji Dergisi, 2015 Dyskeratosis congenita is a rare X-linked recessive, multisystem disease characterized by bone marrow failure, oral leukoplakia, nail dystrophy, and reticular skin pigmentations. It is also associated with ocular abnormalities.
Taner Kar +3 more
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