Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 2
2011 2
2012 2
2013 1
2014 2
2015 1
2016 1
2017 1
2019 2
2020 2
2021 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
Treatment of telomeropathies.
Vieri M, Brümmendorf TH, Beier F. Vieri M, et al. Best Pract Res Clin Haematol. 2021 Jun;34(2):101282. doi: 10.1016/j.beha.2021.101282. Epub 2021 Jul 1. Best Pract Res Clin Haematol. 2021. PMID: 34404536 Review.
Particularly in adults, TBDs mostly present themselves with heterogeneous clinical features that often include bone marrow failure, hepatopathies, interstitial lung disease and other organ sites. Different degrees of severity are also observed among patients with TBDs, ran …
Particularly in adults, TBDs mostly present themselves with heterogeneous clinical features that often include bone marrow failure, hepatopa …
Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.
Zhang MJ, Cao YX, Wu HY, Li HH. Zhang MJ, et al. Brain Behav. 2021 May;11(5):e02079. doi: 10.1002/brb3.2079. Epub 2021 Mar 18. Brain Behav. 2021. PMID: 33734615 Free PMC article.
The clinical manifestations and CNS imaging features of Hoyeraal-Hreidarsson syndrome were summarized based on our results and a literature review. ...Combining imaging features with clinical and laboratory indicators can assist the diagnosis of Hoyeraal
The clinical manifestations and CNS imaging features of Hoyeraal-Hreidarsson syndrome were summarized based on our resu …
Telomere-driven diseases and telomere-targeting therapies.
Martínez P, Blasco MA. Martínez P, et al. J Cell Biol. 2017 Apr 3;216(4):875-887. doi: 10.1083/jcb.201610111. Epub 2017 Mar 2. J Cell Biol. 2017. PMID: 28254828 Free PMC article. Review.
Mutations in telomere maintenance genes are associated with pathologies referred to as telomere syndromes, including Hoyeraal-Hreidarsson syndrome, dyskeratosis congenita, pulmonary fibrosis, aplastic anemia, and liver fibrosis. ...In addition, mutations in t …
Mutations in telomere maintenance genes are associated with pathologies referred to as telomere syndromes, including Hoyeraal-Hrei
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I. Marrone A, et al. Blood. 2007 Dec 15;110(13):4198-205. doi: 10.1182/blood-2006-12-062851. Epub 2007 Sep 4. Blood. 2007. PMID: 17785587 Free PMC article.
These TERT mutations resulted in reduced telomerase activity and extremely short telomeres. As these mutations are homozygous, these patients are predicted to have significantly reduced telomerase activity in vivo. Interestingly, in contrast to patients with heterozygous T …
These TERT mutations resulted in reduced telomerase activity and extremely short telomeres. As these mutations are homozygous, these patient …
Phylogenetic analysis of Harmonin homology domains.
Colcombet-Cazenave B, Druart K, Bonnet C, Petit C, Spérandio O, Guglielmini J, Wolff N. Colcombet-Cazenave B, et al. BMC Bioinformatics. 2021 Apr 14;22(1):190. doi: 10.1186/s12859-021-04116-5. BMC Bioinformatics. 2021. PMID: 33853521 Free PMC article.
We unveil the implication of HHDs in their various binding interfaces using conservation across families and a new protein-protein surface predictor. Finally, we discussed the functional consequences of three identified pathogenic HHD variants involved in Hoyeraal- …
We unveil the implication of HHDs in their various binding interfaces using conservation across families and a new protein-protein surface …
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.
Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P. Jullien L, et al. Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23. Hum Mutat. 2016. PMID: 26847928
Biallelic mutations in the RTEL1 gene account for the severe telomere biology disorder characteristic of the Hoyeraal-Hreidarsson syndrome (HH). Here, we report a HH patient (P4) carrying two novel compound heterozygous mutations in RTEL1: a premature stop co …
Biallelic mutations in the RTEL1 gene account for the severe telomere biology disorder characteristic of the Hoyeraal-Hreidarsson
Aplastic anemia and Hoyeraal-Hreidarsson syndrome.
Malbora B, Avci Z, Ozbek N. Malbora B, et al. Skinmed. 2014 Mar-Apr;12(2):117-8. Skinmed. 2014. PMID: 24933854
Findings included sparse and dull hair, nail dystrophy, and proximally located thumbs (Figure). Aphthous lesions were observed on the oral mucosa. Neurologic examination disclosed poor head control. ...
Findings included sparse and dull hair, nail dystrophy, and proximally located thumbs (Figure). Aphthous lesions were observed on the …
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models.
Benyelles M, Episkopou H, O'Donohue MF, Kermasson L, Frange P, Poulain F, Burcu Belen F, Polat M, Bole-Feysot C, Langa-Vives F, Gleizes PE, de Villartay JP, Callebaut I, Decottignies A, Revy P. Benyelles M, et al. EMBO Mol Med. 2019 Jul;11(7):e10201. doi: 10.15252/emmm.201810201. Epub 2019 Jun 6. EMBO Mol Med. 2019. PMID: 31273937 Free PMC article.
Using cells from two unrelated HH individuals carrying novel PARN mutations and a human PARN knock-out (KO) cell line with inducible PARN complementation, we found that PARN deficiency affects both telomere length and stability and down-regulates the expression of TRF1, TRF2, TPP …
Using cells from two unrelated HH individuals carrying novel PARN mutations and a human PARN knock-out (KO) cell line with inducible PARN co …
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.
de la Fuente J, Dokal I. de la Fuente J, et al. Pediatr Transplant. 2007 Sep;11(6):584-94. doi: 10.1111/j.1399-3046.2007.00721.x. Pediatr Transplant. 2007. PMID: 17663679
Additionally, patients with the severe multisystem disorder, Hoyeraal-Hreidarsson syndrome, have been found to have DKC1 mutations. Collectively, these observations have demonstrated that classical DC, Hoyeraal-Hreidarsson syndrome
Additionally, patients with the severe multisystem disorder, Hoyeraal-Hreidarsson syndrome, have been found to have DKC …
Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.
Awad A, Glousker G, Lamm N, Tawil S, Hourvitz N, Smoom R, Revy P, Tzfati Y. Awad A, et al. Nucleic Acids Res. 2020 Jul 27;48(13):7239-7251. doi: 10.1093/nar/gkaa503. Nucleic Acids Res. 2020. PMID: 32542379 Free PMC article.
However, telomeres in somatic cells gradually shorten with age, ultimately leading to cellular senescence. Hoyeraal-Hreidarsson syndrome (HHS) is characterized by accelerated telomere shortening and diverse symptoms including bone marrow failure, immunodefici …
However, telomeres in somatic cells gradually shorten with age, ultimately leading to cellular senescence. Hoyeraal-Hreidarsson
16 results