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Dyskeratosis congenita and telomere biology disorders.
Savage SA. Savage SA. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. Hematology Am Soc Hematol Educ Program. 2022. PMID: 36485133 Free PMC article. Review.
Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biology disorders (TBDs) beyond the classic dyskeratosis congenita (DC) triad of nail dysplasia, abnormal skin pigmentation, and ora …
Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biolog …
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T. Dokal I, et al. Blood. 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. Blood. 2022. PMID: 35605178 Free PMC article.
They have also provided important information on fundamental biological pathways, including DNA repair: Fanconi anemia (FA) genes; telomere maintenance: dyskeratosis congenita (DC) genes; and ribosome biogenesis: Shwachman-Diamond syndrome and Diamond-Blackfan anemi …
They have also provided important information on fundamental biological pathways, including DNA repair: Fanconi anemia (FA) genes; telomere …
The biology and management of dyskeratosis congenita and related disorders of telomeres.
Tummala H, Walne A, Dokal I. Tummala H, et al. Expert Rev Hematol. 2022 Aug;15(8):685-696. doi: 10.1080/17474086.2022.2108784. Epub 2022 Aug 8. Expert Rev Hematol. 2022. PMID: 35929966 Review.
BACKGROUND: Dyskeratosis congenita (DC) is a multisystem syndrome characterized by mucocutaneous abnormalities, bone marrow failure, and predisposition to cancer. ...
BACKGROUND: Dyskeratosis congenita (DC) is a multisystem syndrome characterized by mucocutaneous abnormalities, bone marrow fa …
Telomerase RNA-based aptamers restore defective myelopoiesis in congenital neutropenic syndromes.
Martínez-Balsalobre E, García-Castillo J, García-Moreno D, Naranjo-Sánchez E, Fernández-Lajarín M, Blasco MA, Alcaraz-Pérez F, Mulero V, Cayuela ML. Martínez-Balsalobre E, et al. Nat Commun. 2023 Sep 22;14(1):5912. doi: 10.1038/s41467-023-41472-7. Nat Commun. 2023. PMID: 37737237 Free PMC article.
The CR4/CR5 domain of TERC is known to play this role, since a mutation of this domain found in dyskeratosis congenita (DC) patients decreases its affinity for RNA Pol II, impairing its myelopoietic activity as a result. ...
The CR4/CR5 domain of TERC is known to play this role, since a mutation of this domain found in dyskeratosis congenita (DC) pa …
The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis.
Kawashima N, Bezzerri V, Corey SJ. Kawashima N, et al. Biomolecules. 2023 Aug 16;13(8):1249. doi: 10.3390/biom13081249. Biomolecules. 2023. PMID: 37627314 Free PMC article. Review.
Inherited bone marrow failure syndromes (IBMFSs) include Fanconi anemia, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, severe congenital neutropenia, and other rare entities such as GATA2 deficiency and SAMD9/9L mutations. ...Exome seq …
Inherited bone marrow failure syndromes (IBMFSs) include Fanconi anemia, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, dyskeratosi …
p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes.
Rakotopare J, Toledo F. Rakotopare J, et al. Int J Mol Sci. 2023 Oct 6;24(19):14940. doi: 10.3390/ijms241914940. Int J Mol Sci. 2023. PMID: 37834388 Free PMC article. Review.
Mice with a constitutive increase in p53 activity exhibited features of dyskeratosis congenita (DC), a bone marrow failure syndrome (BMFS) caused by defective telomere maintenance. ...
Mice with a constitutive increase in p53 activity exhibited features of dyskeratosis congenita (DC), a bone marrow failure syn …
Spectrum of Liver Pathology in Dyskeratosis Congenita.
Putra J, Agarwal S, Al-Ibraheemi A, Alomari AI, Perez-Atayde AR. Putra J, et al. Am J Surg Pathol. 2023 Aug 1;47(8):869-877. doi: 10.1097/PAS.0000000000002060. Epub 2023 May 29. Am J Surg Pathol. 2023. PMID: 37246821
Dyskeratosis congenita (DC) is a rare multisystemic disorder associated with defective telomere maintenance. ...
Dyskeratosis congenita (DC) is a rare multisystemic disorder associated with defective telomere maintenance. ...
Telomere biology disorders may manifest as common variable immunodeficiency (CVID).
Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B. Rolles B, et al. Clin Immunol. 2023 Dec;257:109837. doi: 10.1016/j.clim.2023.109837. Epub 2023 Nov 8. Clin Immunol. 2023. PMID: 37944684
Telomere biology disorders (TBD) are caused by germline pathogenic variants in genes related to telomere maintenance and are characterized by critically short telomeres. In contrast to classical dyskeratosis congenita (DC), which is typically diagnosed in infancy, a …
Telomere biology disorders (TBD) are caused by germline pathogenic variants in genes related to telomere maintenance and are characterized b …
Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N. Vittal A, et al. Hepatology. 2023 Dec 1;78(6):1777-1787. doi: 10.1097/HEP.0000000000000461. Epub 2023 May 16. Hepatology. 2023. PMID: 37184208 Free PMC article.
BACKGROUND AND AIMS: Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are characterized by very short telomeres and multisystem organ involvement including liver disease. ...
BACKGROUND AND AIMS: Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are characterized by very short …
44 results