Dyskeratosis Congenita Latest Advances

Find the Latest Research About Dyskeratosis Congenita

Last Updated: 09/26/2026

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Found 970 publications

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Journal: The Israel Medical Association journal : IMAJ
Published: August 06, 2026

Retinopathy in Dyskeratosis Congenita and Related Telomere Biology Disorders: Short Telomere Associated Retinopathy (STAR).

Retinopathy in Dyskeratosis Congenita and Related Telomere Biology Disorders: Short Telomere Associated Retinopathy (STAR).

Journal: Ophthalmology. Retina
Published: July 27, 2026

Disease mutations in the N-terminal extension and α2'-helix of dyskerin do not abolish dimerization but disrupt binding to the telomerase RNA.

Disease mutations in the N-terminal extension and α2'-helix of dyskerin do not abolish dimerization but disrupt binding to the telomerase RNA.

Journal: RNA (New York, N.Y.)
Published: July 21, 2026

Rothmund-Thomson Syndrome Type 2 Misdiagnosed as Dyskeratosis Congenita.

Rothmund-Thomson Syndrome Type 2 Misdiagnosed as Dyskeratosis Congenita.

Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology
Published: June 26, 2026

Extended Cancer Spectrum in Adults With Telomere Biology Disorders: Insights From a 113-Patient Single-Center Cohort.

Extended Cancer Spectrum in Adults With Telomere Biology Disorders: Insights From a 113-Patient Single-Center Cohort.

Journal: American journal of hematology
Published: May 08, 2026

N-Terminal Variant p.Ala2Val in X-Linked Dyskeratosis Congenita Gene (DKC1) Disrupts Its Post-Translational Modification and Nucleolar Localization.

N-Terminal Variant p.Ala2Val in X-Linked Dyskeratosis Congenita Gene (DKC1) Disrupts Its Post-Translational Modification and Nucleolar Localization.

Journal: Molecular genetics & genomic medicine
Published: May 05, 2026

Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.

Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.

Journal: Frontiers in genetics
Published: March 18, 2026

Human length telomeres restrict the regenerative potential of hematopoietic stem cells in mice.

Human length telomeres restrict the regenerative potential of hematopoietic stem cells in mice.

Journal: The Journal of biological chemistry
Published: March 16, 2026

Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series.

Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series.

Journal: Oral diseases
Published: February 28, 2026

Dyskeratosis Congenita Due to a de novo TINF2 Mutation.

Dyskeratosis Congenita Due to a de novo TINF2 Mutation.

Journal: QJM : monthly journal of the Association of Physicians
Published: February 17, 2026

RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.

RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.

Journal: Nature communications
Published: February 16, 2026

Telomere biology disorders associated with childhood interstitial lung disease.

Telomere biology disorders associated with childhood interstitial lung disease.

Journal: Clinical and experimental pediatrics
Published: February 15, 2026
Showing 1-12 of 970

Last Updated: 09/26/2026