Dyskeratosis Congenita Latest Advances

Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 26, 2025

Interprotomer communication and functional asymmetry in H/ACA snoRNPs.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 18, 2025

Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: November 13, 2025

Fueling for the finish line: Control of human telomerase activity by nucleotide metabolism.

Journal: DNA repair

Published: September 09, 2025

Oral squamous cell carcinoma risk and magnitude of association in inherited cancer predisposition syndromes: evidence from a large real-world cohort.

Journal: Oral surgery, oral medicine, oral pathology and oral radiology

Published: September 08, 2025

Recent progress in human telomerase structure and its therapeutic targeting.

Journal: Frontiers in molecular biosciences

Published: August 08, 2025

Case Report of Hair Abnormalities in Dyskeratosis Congenita: A Trichoscopic and Microscopic Analysis.

Journal: Skin appendage disorders

Published: July 10, 2025

Clinical Analysis of Dyskeratosis Congenita in Children

Journal: Zhongguo shi yan xue ye xue za zhi

Published: July 04, 2025

Exosome-mediated decay of unstable long extended precursors of human telomerase RNA is dependent on 5'-cap trimethylation.

Journal: Genes & development

Published: June 16, 2025

Interprotomer Communication and Functional Asymmetry in H/ACA snoRNPs.

Journal: bioRxiv : the preprint server for biology

Published: June 12, 2025

Dyskeratosis congenita combined with myeloproliferative disorder and trilineage cytopenia

Journal: Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases

Published: June 10, 2025

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Journal: Orphanet journal of rare diseases

Published: June 06, 2025

Dyskeratosis Congenita Latest Advances

Find the Latest Research About Dyskeratosis Congenita

Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review

Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review

Interprotomer communication and functional asymmetry in H/ACA snoRNPs.

Interprotomer communication and functional asymmetry in H/ACA snoRNPs.

Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children

Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children

Fueling for the finish line: Control of human telomerase activity by nucleotide metabolism.

Fueling for the finish line: Control of human telomerase activity by nucleotide metabolism.

Oral squamous cell carcinoma risk and magnitude of association in inherited cancer predisposition syndromes: evidence from a large real-world cohort.

Oral squamous cell carcinoma risk and magnitude of association in inherited cancer predisposition syndromes: evidence from a large real-world cohort.

Recent progress in human telomerase structure and its therapeutic targeting.

Recent progress in human telomerase structure and its therapeutic targeting.

Case Report of Hair Abnormalities in Dyskeratosis Congenita: A Trichoscopic and Microscopic Analysis.

Case Report of Hair Abnormalities in Dyskeratosis Congenita: A Trichoscopic and Microscopic Analysis.

Clinical Analysis of Dyskeratosis Congenita in Children

Clinical Analysis of Dyskeratosis Congenita in Children

Exosome-mediated decay of unstable long extended precursors of human telomerase RNA is dependent on 5'-cap trimethylation.

Exosome-mediated decay of unstable long extended precursors of human telomerase RNA is dependent on 5'-cap trimethylation.

Interprotomer Communication and Functional Asymmetry in H/ACA snoRNPs.

Interprotomer Communication and Functional Asymmetry in H/ACA snoRNPs.

Dyskeratosis congenita combined with myeloproliferative disorder and trilineage cytopenia

Dyskeratosis congenita combined with myeloproliferative disorder and trilineage cytopenia

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.