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Telomere Length as a New Risk Marker of Early-Onset Colorectal Cancer.
Int J Mol Sci
February 2023
Institute of Biomedical Research of Salamanca (IBSAL-SACYL), University of Salamanca-CSIC, Paseo de San Vicente, 58-182, 37007 Salamanca, Spain.
Early-onset colorectal cancer (EOCRC; age younger than 50 years) incidence has been steadily increasing in recent decades worldwide. The need for new biomarkers for EOCRC prevention strategies is undeniable. In this study, we aimed to explore whether an aging factor, such as telomere length (TL), could be a useful tool in EOCRC screening.
View Article and Find Full Text PDFA case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.
Medicine (Baltimore)
May 2018
Department of Respiratory Medicine, The First Affiliated Hospital, Sun Yat-sen University Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
Rationale: Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals with familial pulmonary fibrosis.
View Article and Find Full Text PDFGenetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Haematologica
November 2016
Boston Children's Hospital, Dana Farber Cancer Institute, and Harvard Medical School, MA, USA
The clinical and histopathological distinctions between inherited versus acquired bone marrow failure and myelodysplastic syndromes are challenging. The identification of inherited bone marrow failure/myelodysplastic syndromes is critical to inform appropriate clinical management. To investigate whether a subset of pediatric and young adults undergoing transplant for aplastic anemia or myelodysplastic syndrome have germline mutations in bone marrow failure/myelodysplastic syndrome genes, we performed a targeted genetic screen of samples obtained between 1990-2012 from children and young adults with aplastic anemia or myelodysplastic syndrome transplanted at the Fred Hutchinson Cancer Research Center.
View Article and Find Full Text PDFCell cycle regulated phosphorylation of the telomere-associated protein TIN2.
PLoS One
April 2014
Department of Pharmacology and Cancer Biology, Department of Radiation Oncology, DUMC, Durham, North Carolina, United States of America.
The protein TIN2 is a member of telomere-binding protein complex that serves to cap and protect mammalian chromosome ends. As a number of proteins in this complex are phosphorylated in a cell cycle-dependent manner, we investigated whether TIN2 is modified by phosphorylation as well. We performed phospho-proteomic analysis of human TIN2, and identified two phosphorylated residues, serines 295 and 330.
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