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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.
J Med Case Rep
January 2025
Department of Hepatic Biliary Pancreatic Medicine, First Hospital of Jilin University, 1 Xinmin Avenue, Changchun, 130021, China.
Background: Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. "Porto-sinusoidal vascular disease" has been recently proposed, according to new diagnostic criteria, to replace the term "idiopathic non-cirrhotic portal hypertension." TERT plays an important role in telomeric DNA repair and replication.
View Article and Find Full Text PDF[Next generation sequencing in pediatric bone marrow failure: a valuable tool for accurate diagnosis].
Andes Pediatr
October 2024
Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
Unlabelled: Inherited Bone Marrow Failure syndromes account for approximately 25% of cases of aplastic anemia in pediatric patients. Next-generation sequencing (NGS) technologies have allowed the diagnosis of an increasing number of hereditary causes of bone marrow failure.
Objective: To determine the diagnostic yield and clinical concordance of NGS in the diagnosis of a cohort of pediatric patients with bone marrow failure.
DCLRE1B as a novel prognostic biomarker associated with immune infiltration: a pancancer analysis.
Sci Rep
December 2024
Department of Orthopedics, The Second Affiliated hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi Province, China.
The DNA cross-link repair 1B (DCLRE1B) gene is involved in repairing cross-links between DNA strands, including those associated with Hoyeraal-Hreidarsson syndrome and congenital dyskeratosis. However, its role in tumours is not well understood. DCLRE1B expression profiles were examined in tumour tissues and normal tissues using TCGA, GTEx, and TARGET datasets.
View Article and Find Full Text PDFBilateral cytomegalovirus retinitis in a patient with dyskeratosis congenita.
Int J Ophthalmol
December 2024
Department of Ophthalmology, the Affiliated Hospital of Yunnan University, Kunming 650000, Yunnan Province, China.
"Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.
JMIR Form Res
December 2024
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, United States.
Background: Web-based information and social support are commonly used in rare disease communities where geographic dispersion and limited provider expertise complicate in-person support. We examined web-based resource use among caregivers of individuals with telomere biology disorders (TBDs), which are rare genetic conditions with long diagnostic odysseys and uncertain prognoses including multiorgan system cancer risk.
Objective: This study explored internet-based information-seeking and social support practices and perspectives of patients with TBDs and their caregivers.
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