Ask about this productRelated genes to: TINF2 Blocking Peptide
- Gene:
- TINF2 NIH gene
- Name:
- TERF1 interacting nuclear factor 2
- Previous symbol:
- -
- Synonyms:
- TIN2
- Chromosome:
- 14q12
- Locus Type:
- gene with protein product
- Date approved:
- 1999-11-19
- Date modifiied:
- 2019-04-23
Related products to: TINF2 Blocking Peptide
Related articles to: TINF2 Blocking Peptide
- : Dyskeratosis congenita (DC) is a rare inherited disorder classified as a telomere biology disorder and characterized by multisystem involvement, including bone marrow failure and mucocutaneous abnormalities. Oral manifestations such as leukoplakia, increased susceptibility to infection, and abnormal dental development have been reported; however, detailed descriptions of long-term oral functional management in pediatric patients remain limited. This report aims to describe the longitudinal oral management and imaging-based assessment of dental development in a child with DC and to discuss the clinical implications in the context of existing literature. : A female patient diagnosed with dyskeratosis congenita due to a heterozygous TINF2 mutation was followed from early childhood. She underwent hematopoietic stem-cell transplantation at five years of age and later required lung and liver transplantation. Long-term oral management included regular professional oral care, preventive strategies, and periodic imaging evaluation. Panoramic radiographs obtained over several years demonstrated generalized delayed eruption and incomplete root formation relative to chronological age, with apparent early arrest of root elongation. : This case highlights the potential association between telomere dysfunction, intensive systemic therapy in early childhood, and arrested odontogenesis. These findings suggest a possible association between telomere dysfunction, early intensive systemic therapy, and impaired root formation. Despite severe systemic disease, continuous preventive oral care and imaging-based monitoring were effective in maintaining oral health and detecting mucosal changes. : Long-term preventive oral management combined with noninvasive imaging assessment may play an important role in preserving oral function and monitoring dental development in pediatric patients with dyskeratosis congenita. This case adds to the limited literature on longitudinal oral outcomes in this rare disorder. - Source: PubMed
Publication date: 2026/04/30
Aoki ErikaKubota KeigoHoshi Kazuto - - Source: PubMed
Publication date: 2026/02/25
Jain Ankur - Telomeres are proposed to alternate between "closed" states, in which chromosome ends are protected from DNA damage signaling and inaccessible to telomerase, and "open" states, where they become accessible for telomerase mediated elongation but less protected. Whether these states reflect distinct molecular mechanisms or mutually exclusive structural conformations remains unclear. Here, we develop a single-cell assay to monitor telomerase activity in mouse embryonic stem cells. Using this approach, we demonstrate that the shelterin component TPP1 is essential for telomerase recruitment via its interaction with TIN2, independently of POT1. In contrast, POT1 is dispensable for telomerase function but required for telomere end protection, acting independently of TPP1. These findings challenge the classical open-closed telomere model and reveal that telomerase recruitment and end protection are mediated by genetically and molecularly separable mechanisms. - Source: PubMed
Publication date: 2026/01/15
Sandhu RanjodhTricola Gianna MLee Si YoungTran AndyLazzerini Denchi Eros - To explore the clinical features and genetic etiology of a child with Hoyeraal-Hreidarsson syndrome (HHS). - Source: PubMed
You YuhuiHan DongqingLiu WenjingYuan Zhaohong
- Source: PubMed