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https://www.readbyqxmd.com/read/27913466/nontransplant-therapy-for-bone-marrow-failure
#1
Danielle M Townsley, Thomas Winkler
Nontransplant therapeutic options for acquired and constitutional aplastic anemia have significantly expanded during the last 5 years. In the future, transplant may be required less frequently. That trilineage hematologic responses could be achieved with the single agent eltrombopag in refractory aplastic anemia promotes new interest in growth factors after years of failed trials using other growth factor agents. Preliminary results adding eltrombopag to immunosuppressive therapy are promising, but long-term follow-up data evaluating clonal evolution rates are required before promoting its standard use in treatment-naive disease...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27626530/danazol-treatment-for-telomere-diseases
#2
LETTER
Stéphane Jouneau, Mallorie Kerjouan, Charles Ricordel
No abstract text is available yet for this article.
September 15, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27626529/danazol-treatment-for-telomere-diseases
#3
LETTER
Mathis Grossmann
No abstract text is available yet for this article.
September 15, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27626528/danazol-treatment-for-telomere-diseases
#4
LETTER
Danielle M Townsley, Bogdan Dumitriu, Neal S Young
No abstract text is available yet for this article.
September 15, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27587879/a-novel-terc-cr4-cr5-domain-mutation-causes-telomere-disease-via-decreased-tert-binding
#5
Baris Boyraz, Courtney M Bellomo, Mark D Fleming, Corey S Cutler, Suneet Agarwal
No abstract text is available yet for this article.
September 1, 2016: Blood
https://www.readbyqxmd.com/read/27192671/danazol-treatment-for-telomere-diseases
#6
Danielle M Townsley, Bogdan Dumitriu, Delong Liu, Angélique Biancotto, Barbara Weinstein, Christina Chen, Nathan Hardy, Andrew D Mihalek, Shilpa Lingala, Yun Ju Kim, Jianhua Yao, Elizabeth Jones, Bernadette R Gochuico, Theo Heller, Colin O Wu, Rodrigo T Calado, Phillip Scheinberg, Neal S Young
BACKGROUND: Genetic defects in telomere maintenance and repair cause bone marrow failure, liver cirrhosis, and pulmonary fibrosis, and they increase susceptibility to cancer. Historically, androgens have been useful as treatment for marrow failure syndromes. In tissue culture and animal models, sex hormones regulate expression of the telomerase gene. METHODS: In a phase 1-2 prospective study involving patients with telomere diseases, we administered the synthetic sex hormone danazol orally at a dose of 800 mg per day for a total of 24 months...
May 19, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/26482878/poly-a-specific-ribonuclease-parn-mediates-3-end-maturation-of-the-telomerase-rna-component
#7
Diane H Moon, Matthew Segal, Baris Boyraz, Eva Guinan, Inga Hofmann, Patrick Cahan, Albert K Tai, Suneet Agarwal
Mutations in the PARN gene (encoding poly(A)-specific ribonuclease) cause telomere diseases including familial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita, but how PARN deficiency impairs telomere maintenance is unclear. Here, using somatic cells and induced pluripotent stem cells (iPSCs) from patients with dyskeratosis congenita with PARN mutations, we show that PARN is required for the 3'-end maturation of the telomerase RNA component (TERC). Patient-derived cells as well as immortalized cells in which PARN is disrupted show decreased levels of TERC...
December 2015: Nature Genetics
https://www.readbyqxmd.com/read/26237044/mrna-deadenylation-and-telomere-disease
#8
Philip J Mason, Monica Bessler
No abstract text is available yet for this article.
August 3, 2015: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/25893598/mrna-deadenylation-and-telomere-disease
#9
COMMENT
Philip J Mason, Monica Bessler
Dyskeratosis congenita (DC) is an inherited BM failure disorder that is associated with mutations in genes involved with telomere function and maintenance; however, the genetic cause of many instances of DC remains uncharacterized. In this issue of the JCI, Tummala and colleagues identify mutations in the gene encoding the poly(A)-specific ribonuclease (PARN) in individuals with a severe form of DC in three different families. PARN deficiency resulted in decreased expression of genes required for telomere maintenance and an aberrant DNA damage response, including increased levels of p53...
May 2015: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/25723462/emerging-therapeutic-approaches-based-on-nanotechnology-for-the-treatment-of-diseases-associated-with-telomere-dysfunction
#10
REVIEW
Susana Patricia Egusquiaguirre, Jose Luis Pedraz, Rosa Maria Hernandez, Manuela Igartua
Telomeric diseases are a group of rare progeroid genetic syndromes, presenting premature aging phenotypes, characterized for defects on telomere maintenance. In humans, telomeres are heterochromatic structures consisting of long TTAGGG repeats located at the chromosomal ends, which shorten progressively after each DNA replication because of the 'end replication problem'. Critically short telomeres activate a DNA damage response that leads to the arrest of the cell cycle and resulting in cellular senescence or apoptosis...
2015: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/25393420/short-telomeres-telomeropathy-and-subclinical-extrapulmonary-organ-damage-in-patients-with-interstitial-lung-disease
#11
COMPARATIVE STUDY
Gautam George, Ivan O Rosas, Ye Cui, Caitlin McKane, Gary M Hunninghake, Phillip C Camp, Benjamin A Raby, Hilary J Goldberg, Souheil El-Chemaly
BACKGROUND: Human telomere disease consists of a wide spectrum of disorders, including pulmonary, hepatic, and bone marrow abnormalities. The extent of bone marrow and liver abnormalities in patients with interstitial lung disease (ILD) and short telomeres is unknown. METHODS: The lung transplant clinic established a prospective protocol to identify short telomeres in patients with ILD not related to connective tissue disease or sarcoidosis. Patients with short telomeres underwent bone marrow biopsies, liver biopsies, or both as part of the evaluation for transplant candidacy...
June 2015: Chest
https://www.readbyqxmd.com/read/25237198/bone-marrow-failure-and-the-telomeropathies
#12
REVIEW
Danielle M Townsley, Bogdan Dumitriu, Neal S Young
Our understanding of the pathophysiology of aplastic anemia is undergoing significant revision, with implications for diagnosis and treatment. Constitutional and acquired disease is poorly delineated, as lesions in some genetic pathways cause stereotypical childhood syndromes and also act as risk factors for clinical manifestations in adult life. Telomere diseases are a prominent example of this relationship. Accelerated telomere attrition is the result of mutations in telomere repair genes and genes encoding components of the shelterin complex and related proteins...
October 30, 2014: Blood
https://www.readbyqxmd.com/read/23993228/understanding-telomere-diseases-through-analysis-of-patient-derived-ips-cells
#13
REVIEW
Luis F Z Batista, Steven E Artandi
A unique characteristic of tissue stem cells is the ability to self-renew, a process that enables the life-long maintenance of many organs. Stem cell self-renewal is dependent in part on the synthesis of telomere repeats by the enzyme telomerase. Defects in telomerase and in genes in the telomere maintenance pathway result in diverse disease states, including dyskeratosis congenita, pulmonary fibrosis, aplastic anemia, liver cirrhosis and cancer. Many of these disease states share a tissue failure phenotype, such as loss of bone marrow cells or failure of pulmonary epithelium, suggesting that stem cell dysfunction is a common pathophysiological mechanism underlying these telomere diseases...
October 2013: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/23869908/functional-characterization-of-human-ctc1-mutations-reveals-novel-mechanisms-responsible-for-the-pathogenesis-of-the-telomere-disease-coats-plus
#14
Peili Gu, Sandy Chang
Coats plus is a rare recessive disorder characterized by intracranial calcifications, hematological abnormalities, and retinal vascular defects. This disease results from mutations in CTC1, a member of the CTC1-STN1-TEN1 (CST) complex critical for telomere replication. Telomeres are specialized DNA/protein structures essential for the maintenance of genome stability. Several patients with Coats plus display critically shortened telomeres, suggesting that telomere dysfunction plays an important role in disease pathogenesis...
December 2013: Aging Cell
https://www.readbyqxmd.com/read/23770245/mutant-mice-lacking-the-p53-c-terminal-domain-model-telomere-syndromes
#15
Iva Simeonova, Sara Jaber, Irena Draskovic, Boris Bardot, Ming Fang, Rachida Bouarich-Bourimi, Vincent Lejour, Laure Charbonnier, Claire Soudais, Jean-Christophe Bourdon, Michel Huerre, Arturo Londono-Vallejo, Franck Toledo
Mutations in p53, although frequent in human cancers, have not been implicated in telomere-related syndromes. Here, we show that homozygous mutant mice expressing p53Δ31, a p53 lacking the C-terminal domain, exhibit increased p53 activity and suffer from aplastic anemia and pulmonary fibrosis, hallmarks of syndromes caused by short telomeres. Indeed, p53Δ31/Δ31 mice had short telomeres and other phenotypic traits associated with the telomere disease dyskeratosis congenita and its severe variant the Hoyeraal-Hreidarsson syndrome...
June 27, 2013: Cell Reports
https://www.readbyqxmd.com/read/23585473/defective-telomere-elongation-and-hematopoiesis-from-telomerase-mutant-aplastic-anemia-ipscs
#16
Thomas Winkler, So Gun Hong, Jake E Decker, Mary J Morgan, Chuanfeng Wu, William M Hughes, Yanqin Yang, Danny Wangsa, Hesed M Padilla-Nash, Thomas Ried, Neal S Young, Cynthia E Dunbar, Rodrigo T Calado
Critically short telomeres activate p53-mediated apoptosis, resulting in organ failure and leading to malignant transformation. Mutations in genes responsible for telomere maintenance are linked to a number of human diseases. We derived induced pluripotent stem cells (iPSCs) from 4 patients with aplastic anemia or hypocellular bone marrow carrying heterozygous mutations in the telomerase reverse transcriptase (TERT) or the telomerase RNA component (TERC) telomerase genes. Both mutant and control iPSCs upregulated TERT and TERC expression compared with parental fibroblasts, but mutant iPSCs elongated telomeres at a lower rate compared with healthy iPSCs, and the deficit correlated with the mutations' impact on telomerase activity...
May 2013: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/23279657/the-gastrointestinal-manifestations-of-telomere-mediated-disease
#17
Naudia L Jonassaint, Nini Guo, Joseph A Califano, Elizabeth A Montgomery, Mary Armanios
Defects in telomere maintenance genes cause pathological telomere shortening, and manifest in syndromes which have prominent phenotypes in tissues of high turnover: the skin and bone marrow. Because the gastrointestinal (GI) epithelium is highly proliferative, we sought to determine whether telomere syndromes cause GI disease, and to define its prevalence, spectrum, and natural history. We queried subjects in the Johns Hopkins Telomere Syndrome Registry for evidence of luminal GI disease. In sixteen percent of Registry subjects (6 of 38), there was a history of significant GI pathology, and 43 additional cases were identified in the literature...
April 2013: Aging Cell
https://www.readbyqxmd.com/read/22507770/bone-marrow-failure-and-the-new-telomere-diseases-practice-and-research
#18
Neal S Young
The telomeropathies are a newly described group of human diseases based on the genetics and molecular biology of the telomeres, the ends of chromosomes. Telomeres are repeated hexanucleotides and their associated proteins; the protect chromosomes from recognition as damaged DNA, and their inevitable gradual loss with DNA replication is harmless as they are noncoding. However, when telomeres become critically short in a cell, senescence, apoptosis, or, rarely malignant transformation results. In individuals with mutations in genes involved in telomere repair, especially the enzymatic telomerase complex, telomere attrition is accelerated...
April 2012: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/22323451/human-telomere-disease-due-to-disruption-of-the-ccaat-box-of-the-terc-promoter
#19
Anna M Aalbers, Sachiko Kajigaya, Marry M van den Heuvel-Eibrink, Vincent H J van der Velden, Rodrigo T Calado, Neal S Young
Mutations in the coding region of telomerase complex genes can result in accelerated telomere attrition and human disease. Manifestations of telomere disease include the bone marrow failure syndromes dyskeratosis congenita and aplastic anemia, acute myeloid leukemia, liver cirrhosis, and pulmonary fibrosis. Here, we describe a mutation in the CCAAT box (GCAAT) of the TERC gene promoter in a family in which multiple members had typical features of telomeropathy. The genetic alteration in this critical regulatory sequence resulted in reduced reporter gene activity and absent binding of transcription factor NF-Y, likely responsible for reduced TERC levels, decreased telomerase activity, and short telomeres...
March 29, 2012: Blood
https://www.readbyqxmd.com/read/21239767/telomere-biology-and-telomere-diseases-implications-for-practice-and-research
#20
Neal S Young
The recent recognition of genetic defects in telomeres and telomere repair in multiple human diseases has practical implications for hematologists and oncologists and their patients; consequences for future clinical research in hematology and other subspecialties; and even importance in the interpretation of animal experiments involving cell propagation. Telomere diseases include constitutional marrow failure as dyskeratosis congenita, some apparently acquired aplastic anemia, myelodysplasia and acute myeloid leukemia; pulmonary fibrosis; and hepatic nodular regenerative hyperplasia and cirrhosis...
2010: Hematology—the Education Program of the American Society of Hematology
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