Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.314
Abstract: The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# 300126), the gene encoding NAP57 (aka dyskerin). The typically missense mutations modulate the interaction of NAP57 with… read more here.
Keywords: dyskeratosis congenita; dyskerin; interaction nap57; shq1 mutations ... See more keywords
Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita
Sign Up to like & getrecommendations! Published in 2021 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2021.103760
Abstract: Summary Background Dyskeratosis congenita (DC) is a telomere biology disorder associated with high rates of bone marrow failure (BMF) and other medical complications. Oral androgens are successfully used to treat BMF in DC but often… read more here.
Keywords: androgen therapy; dyskeratosis congenita; lipoprotein particle; androgen ... See more keywords
Squamous cell carcinoma of the tongue in 5-year-old girl with dyskeratosis congenita.
Sign Up to like & getrecommendations! Published in 2021 at "International journal of oral and maxillofacial surgery"
DOI: 10.1016/j.ijom.2021.02.027
Abstract: Dyskeratosis congenita is a rare inherited bone marrow failure syndrome with three distinct clinical features: nail dystrophy, reticular skin pigmentation, and oral leukoplakia. The case of a 5-year-old female patient diagnosed with squamous cell carcinoma… read more here.
Keywords: cell carcinoma; squamous cell; tongue; dyskeratosis congenita ... See more keywords
A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita
Sign Up to like & getrecommendations! Published in 2018 at "Medicine"
DOI: 10.1097/md.0000000000010724
Abstract: Rationale: Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT,… read more here.
Keywords: fibrosis; dyskeratosis congenita; pulmonary fibrosis; tinf2 gene ... See more keywords
Reconsidering the indication of haematopoietic stem cell transplantation for dyskeratosis congenita
Sign Up to like & getrecommendations! Published in 2018 at "British Journal of Haematology"
DOI: 10.1111/bjh.15493
Abstract: Dyskeratosis congenita (DC), which is characterized by a classical triad of reticular skin pigmentation, nail dystrophy and oral leukoplakia, is an inherited bone marrow failure (BMF) syndrome (Walne & Dokal, 2009; Nishio & Kojima, 2010).… read more here.
Keywords: cell transplantation; stem cell; transplantation; dyskeratosis congenita ... See more keywords
Neonatal dysphonia caused by subglottic infantile hemangioma
Sign Up to like & getrecommendations! Published in 2017 at "Pediatrics International"
DOI: 10.1111/ped.13308
Abstract: 1 Alter BP, Baerlocher GM, Savage SA et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007; 110: 1439–47. 2 Walne AJ, Dokal I. Advances in… read more here.
Keywords: neonatal dysphonia; subglottic infantile; dysphonia caused; caused subglottic ... See more keywords
Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.
Sign Up to like & getrecommendations! Published in 2018 at "Blood advances"
DOI: 10.1182/bloodadvances.2018016964
Abstract: Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome and the prototypic telomere biology disorder (TBD). Leukocyte telomere length (TL) less than the first percentile for age, measured by flow cytometry with in situ… read more here.
Keywords: dyskeratosis congenita; androgen treated; treated untreated; untreated patients ... See more keywords
Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.
Sign Up to like & getrecommendations! Published in 2020 at "Blood advances"
DOI: 10.1182/bloodadvances.2020001848
Abstract: Dyskeratosis congenita (DC) is a pediatric bone marrow failure syndrome caused by germline mutations in telomere biology genes. Mutations in DKC1 (the most commonly mutated gene in DC), the 3' region of TERC, and poly(A)-specific… read more here.
Keywords: chemical inhibition; telomerase function; inhibition papd5; dyskeratosis congenita ... See more keywords
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0584-y
Abstract: BackgroundDyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared… read more here.
Keywords: variant; gene case; dkc1 gene; dyskeratosis congenita ... See more keywords
A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View.
Sign Up to like & getrecommendations! Published in 2022 at "Acta dermato-venereologica"
DOI: 10.2340/actadv.v102.919
Abstract: Abstract is missing (Short communication) read more here.
Keywords: dyskeratosis congenita; rtel1 gene; pathogenic variant; new pathogenic ... See more keywords
Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2023.1098876
Abstract: Dyskeratosis congenita (DKC), also known as Zinsser–Cole–Engman syndrome, is a telomeropathy typically presenting as a triad of leukoplakia, nail dystrophy, and reticular hyperpigmentation. Reported genetic mutations linked to DKC include DKC1, TINF2, TERC, TERT, C16orf57,… read more here.
Keywords: dyskeratosis congenita; report novel; dkc; gene ... See more keywords