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Longitudinal characterization of mosaic chromosomal alterations identifies factors influencing clonal dynamics of leukocytes
Abstract Characterizing the variation in clonal trajectory of age-related mosaic chromosomal alterations (mCAs) in circulating leukocytes can identify etiologic factors influencing clonal expansion and hematologic malignancy risk.
Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation
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Abstract Pathogenic germline variants (PGVs) in dyskerin pseudouridine synthase 1 (DKC1) cause X-linked recessive dyskeratosis congenita (DC), a telomere biology disorder. Females with heterozygous DKC1 PGVs rarely exhibit DC phenotypes due to favorable X chromosome inactivation (XCI).
By Benilde García-de-Teresa, Tianna Zhao, Consuelo Salas-Labadía, Weiyin Zhou, Silvia Sanchez, Silvia Sánchez, Leda Torres, Raymond C. Caylor, Difei Wang, Chad A. Highfill, Maryam Rafati, Jia Liu, Mauricio Rojas, Burak Altintas, Neelam Giri, Kristine Jones, Komal Jain, Lisa J. McReynolds, Belynda D. Hicks, Sara Frías, Sharon A. Savage, Moisés Fiesco-Roa, Ulises Juárez-Figueroa, Bertha Molina, Logan P. Zeigler, Angélica Monsivais, Esther Lieberman, María de la Luz Orozco-Covarrubias
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Nature
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Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia
CONFLICT OF INTEREST STATEMENT No conflicts of interest are declared. Supporting Information Filename Description bjh19681-sup-0001-DataS1.docxWord 2007 document , 12.5 MB Data S1. REFERENCES 1. Aplastic anemia. N Engl J Med. 2018; 379(17): 1643–1656. 2, , . Clonal evolution in aplastic anemia: failed tumor surveillance or maladaptive recovery? Leuk Lymphoma. 2023; 64(8): 1389–1399. 3, . Secondary myelodysplastic syndrome and leukemia in acquired aplastic anemia and paroxysmal nocturnal hemoglobinuria.
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