Results 101 to 110 of about 4,338 (156)

CRISPR screen identifies CEBPB as contributor to dyskeratosis congenita fibroblast senescence via augmented inflammatory gene response. [PDF]

G3 (Bethesda), 2023
Westin ER, Khodadadi-Jamayran A, Pham LK, Tung ML, Goldman FD.   +4 more
europepmc   +1 more source

Haploidentical Hematopoietic Cell Transplantation in Dyskeratosis Congenita with Myelodysplastic Syndrome/Acute Myeloid Leukemia. [PDF]

Blood Cell Ther
Roy SS, Mallik M, Khadwal A, Gogulamudi PKR, Jain A, Prakash G, Malhotra P.   +6 more
europepmc   +1 more source

Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report. [PDF]

World J Clin Cases, 2022
Picos-Cárdenas VJ, Beltrán-Ontiveros SA, Cruz-Ramos JA, Contreras-Gutiérrez JA, Arámbula-Meraz E, Angulo-Rojo C, Guadrón-Llanos AM, Leal-León EA, Cedano-Prieto DM, Meza-Espinoza JP.   +9 more
europepmc   +1 more source

Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting <i>PARN</i> Gene in Dyskeratosis Congenita. [PDF]

Hum Mutat
Cao Q, Zhao A, Long Z, Wang X, Pan C, Wang Y, He W, Huang H, Chen F, Wang C, Wang X, Sun L, Zhao J, Li M.   +13 more
europepmc   +1 more source

A rare variant of dyskeratosis congenita: RTEL1 defect

Hematology, Transfusion and Cell Therapy, 2020
C. Coskun, S. Unal, N. Akarsu
doaj   +1 more source

Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita. [PDF]

Sci Adv
Sanz-Moreno A, Becker L, Xie K, da Silva-Buttkus P, Dragano NRV, Aguilar-Pimentel A, Amarie OV, Calzada-Wack J, Kraiger M, Leuchtenberger S, Seisenberger C, Marschall S, Rathkolb B, Scifo E, Liu T, Thanabalasingam A, Sanchez-Vazquez R, Martinez P, Blasco MA, Savage SA, Fuchs H, Ehninger D, Gailus-Durner V, de Angelis MH.   +23 more
europepmc   +1 more source

Dyskeratosis congenita: rare case report of Syria. [PDF]

Oxf Med Case Reports, 2021
Hussein F, Omar Z.
europepmc   +1 more source

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

Orphanet J Rare Dis
Tejero E, de Haro MJR, Pujol R, Bogliolo M, Rodríguez-Santiago B, Surrallés J.   +5 more
europepmc   +1 more source

Hoyeraal-Hreidarsson syndrome: a case report of dyskeratosis congenita with a novel PARN gene mutation. [PDF]

Ann Med Surg (Lond)
Çalişkan Kamiş Ş, Çil M, Yağci-Küpeli B.   +2 more
europepmc   +1 more source

Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists. [PDF]

Arch Dermatol Res
Neri Morales C, Cuestas D, Ángel F, Ilelaty Urbano FA, Rodríguez PA, Brito JA, Téllez D, Fernández I, Celis Regalado L.   +8 more
europepmc   +1 more source