Cargando…

Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita

Mutations in the TINF2 gene, encoding the shelterin protein TIN2, cause telomere shortening and the inherited bone marrow (BM) failure syndrome dyskeratosis congenita (DC). A lack of suitable model systems limits the mechanistic understanding of telomere shortening in the stem cells and thus hinders...

Descripción completa

Detalles Bibliográficos
Autores principales:	Choo, Seunga, Lorbeer, Franziska K., Regalado, Samuel G., Short, Sarah B., Wu, Shannon, Rieser, Gabrielle, Bertuch, Alison A., Hockemeyer, Dirk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society of Hematology 2022
Materias:	Hematopoiesis and Stem Cells
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9373014/ https://www.ncbi.nlm.nih.gov/pubmed/35421215 http://dx.doi.org/10.1182/blood.2021013750

Ejemplares similares

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
por: Walne, Amanda J., et al.
Publicado: (2008)

Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
por: Panichareon, Benjaporn, et al.
Publicado: (2015)

Tissue-specific telomere shortening and degenerative changes in a patient with TINF2 mutation and dyskeratosis congenita
por: Roake, Caitlin M., et al.
Publicado: (2021)

Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report
por: Picos-Cárdenas, Verónica Judith, et al.
Publicado: (2022)

TINF2 is a haploinsufficient tumor suppressor that limits telomere length
por: Schmutz, Isabelle, et al.
Publicado: (2020)

de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita
por: Kocheva, SA, et al.
Publicado: (2022)

Dyskeratosis congenita, stem cells and telomeres
por: Kirwan, Michael, et al.
Publicado: (2009)

Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells
por: Pereboeva, Larisa, et al.
Publicado: (2016)

Long tails, short telomeres: Dyskeratosis congenita
por: Tummala, Hemanth, et al.
Publicado: (2015)

A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita
por: Du, Hongchun, et al.
Publicado: (2018)

Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder
por: Niaz, Aram, et al.
Publicado: (2022)

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue
por: Sharma, Richa, et al.
Publicado: (2022)

Dyskeratosis congenita
por: Gitto, Lorenzo, et al.
Publicado: (2020)

A comprehensive RNA editome reveals that edited Azin1 partners with DDX1 to enable hematopoietic stem cell differentiation
por: Wang, Fengjiao, et al.
Publicado: (2021)

GSK3 inhibition rescues growth and telomere dysfunction in dyskeratosis congenita iPSC-derived type II alveolar epithelial cells
por: Fernandez, Rafael Jesus, et al.
Publicado: (2022)

Molecular insight of dyskeratosis congenita: Defects in telomere length homeostasis
por: Dorgaleleh, Saeed, et al.
Publicado: (2022)

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita
por: Gadalla, Shahinaz M., et al.
Publicado: (2016)

Dyskeratosis Congenita Links Telomere Attrition to  Age-Related Systemic Energetics
por: James, Emma Naomi, et al.
Publicado: (2023)

Dyskeratosis congenita presenting with dysphagia
por: Gupta, Kalpana, et al.
Publicado: (2016)

An NFIX-mediated regulatory network governs the balance of hematopoietic stem and progenitor cells during hematopoiesis
por: Walker, Megan, et al.
Publicado: (2022)

Telomere shortening and loss of self-renewal in dyskeratosis congenita iPS cells
por: Batista, Luis F.Z., et al.
Publicado: (2011)

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
por: Agarwal, Suneet, et al.
Publicado: (2010)

Autophagy in mesenchymal progenitors protects mice against bone marrow failure after severe intermittent stress
por: Landspersky, Theresa, et al.
Publicado: (2022)

ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice
por: Bloom, Mackenzie, et al.
Publicado: (2023)

Dyskeratosis congenita and the DNA damage response
por: Kirwan, Michael, et al.
Publicado: (2011)

Dyskeratosis congenita in a Nigerian boy
por: Ibrahim, Aliyu, et al.
Publicado: (2014)

Oral and Dental Findings of Dyskeratosis Congenita
por: Koruyucu, Mine, et al.
Publicado: (2014)

Dyskeratosis Congenita and Corneal Refractive Surgery
por: Heiland, Madeline B., et al.
Publicado: (2019)

Dermoscopic and Onychoscopic Features of Dyskeratosis Congenita
por: Vasani, Resham, et al.
Publicado: (2022)

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita
por: Parry, Erin M, et al.
Publicado: (2011)

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives
por: Khincha, Payal P., et al.
Publicado: (2017)

Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family
por: He, Caixia, et al.
Publicado: (2019)

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder
por: Giri, Neelam, et al.
Publicado: (2019)

spib is required for primitive myeloid development in Xenopus
por: Costa, Ricardo M. B., et al.
Publicado: (2008)

A HaemAtlas: characterizing gene expression in differentiated human blood cells
por: Watkins, Nicholas A., et al.
Publicado: (2009)

STAT1 is essential for HSC function and maintains MHCII(hi) stem cells that resist myeloablation and neoplastic expansion
por: Li, Juan, et al.
Publicado: (2022)

Epigenetic plasticity of erythroid progenitors
por: Brand, Marjorie
Publicado: (2021)

Novel population of human monocyte and osteoclast progenitors from pluripotent stem cells and peripheral blood
por: Root, Sierra H., et al.
Publicado: (2021)

R4 RGS proteins suppress engraftment of human hematopoietic stem/progenitor cells by modulating SDF-1/CXCR4 signaling
por: Chan, Kathy Yuen Yee, et al.
Publicado: (2021)

KAT2A complexes ATAC and SAGA play unique roles in cell maintenance and identity in hematopoiesis and leukemia
por: Arede, Liliana, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_ddjbv4h883mu1lbaqgbvitq4am