|1.||Aplastic Anemia (Anemia, Hypoplastic)
|2.||Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)
|3.||Fanconi Anemia (Fanconi's Anemia)
|1.||Dokal, Inderjeet: 29 articles (05/2015 - 06/2002)|
|2.||Alter, Blanche P: 21 articles (10/2015 - 01/2005)|
|3.||Vulliamy, Tom: 21 articles (09/2013 - 06/2002)|
|4.||Mason, Philip J: 19 articles (09/2014 - 06/2002)|
|5.||Giri, Neelam: 15 articles (08/2015 - 09/2007)|
|6.||Savage, Sharon A: 14 articles (08/2015 - 09/2007)|
|7.||Bessler, Monica: 13 articles (03/2015 - 02/2004)|
|8.||Marrone, Anna: 13 articles (11/2009 - 06/2002)|
|9.||Kirwan, Michael: 11 articles (03/2013 - 07/2007)|
|10.||Lansdorp, Peter M: 11 articles (03/2010 - 08/2003)|
|1.||RNA (Ribonucleic Acid)IBA
11/15/2003 - "Substitution mutagenesis within the proposed RNA.RNA interaction site of hTR(380-444) resulted in a loss of dimerisation potential and insertion of the dyskeratosis congenita mutation C408G led to a significant reduction in dimer formation. "
01/01/2012 - "Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing."
01/20/2006 - "Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita."
01/01/2006 - "Mutations in key RNA and protein components of H/ACA RNPs result in dyskeratosis congenita, a serious multisystem genetic disease. "
10/01/2007 - "PUA motifs are involved in dyskeratosis congenita and cancer, pointing to links between RNA metabolism and human diseases."
|2.||Prostaglandins D (PGD)IBA
|3.||Telomerase (Telomerase Reverse Transcriptase)IBA
04/01/2015 - "The aim of the present study was to develop a novel strategy to deliver intracellularly the peptide GSE24.2 for the treatment of Dyskeratosis congenita (DC) and other defective telomerase disorders. "
12/01/2012 - "The aim of this study is to present the limbal stem cell deficiency (LSCD) cases with features resembling dyskeratosis congenita (DC), a heritable disease of stem cells principally caused by telomerase deficiency. "
01/15/2015 - "Insight into the telomerase mechanism can be gained from syndromes such as dyskeratosis congenita, in which mutation of telomerase components manifests in telomere dysfunction. "
01/01/2015 - "It was previously reported that expression of a dyskerin-derived peptide, GSE24.2, increases telomerase activity, regulates gene expression and decreases DNA damage and oxidative stress in dyskeratosis congenita patient cells. "
12/04/2014 - "Telomere maintenance by telomerase is impaired in the stem cell disease dyskeratosis congenita and during human aging. "
01/01/2006 - "Mutations affecting ribosome assembly or function are associated with Diamond-Blackfan anemia, dyskeratosis congenita, and Shwachman-Diamond syndrome. "
08/01/2015 - "Immune function abnormalities have been reported in patients with Fanconi anemia (FA), dyskeratosis congenita (DC) and, rarely, in Shwachman-Diamond syndrome (SDS), and Diamond-Blackfan anemia (DBA), but large systematic studies are lacking. "
10/01/2015 - "In this section, we describe physical and laboratory findings and management of the major IBMFS: Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and Diamond Blackfan anemia. "
01/01/2015 - "Canonical variate analysis separated dyskeratosis congenita widely from the other three syndromes by the first canonical variable (89.7% of the variance); the second variable (10.0%) separated Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and Fanconi anemia from each other. "
01/01/2015 - "Most dyskeratosis congenita telomere lengths were below the 1(st) percentile, while only 2 Fanconi anemia and one each Diamond-Blackfan anemia and Shwachman-Diamond syndrome were that low. "
|5.||Hoyeraal Hreidarsson syndromeIBA
11/01/2015 - "Hoyeraal-Hreidarsson syndrome is a rare telomere biology disorder that is recognized as a severe variant of dyskeratosis congenita. "
11/01/2015 - "Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype."
11/01/2015 - "Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan."
02/18/2015 - "Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction. "
08/10/2014 - "As the genetic background of dyskeratosis congenita or Hoyeraal-Hreidarsson syndrome has expanded rapidly, multiple causative genes and inheritance patterns pose a great challenge to their genetic diagnosis. "
01/01/2004 - "In respect of dyskeratosis congenita (DC), a disease of either X-linked or autosomal dominant/recessive inheritance which is characterized by premature ageing of highly regenerative tissues, studies have been carried out in order to elucidate whether the X-linked DC is caused by a defect in ribosomal RNA processing and/or telomere maintenance. "
12/01/2013 - "Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation."
06/02/2010 - "One example is X-linked dyskeratosis congenita (X-DC) in which the DKC1 gene, encoding for an enzyme that modifies ribosomal RNA, is found to be mutated. "
02/01/2004 - "Newly developed animal models suggest that defects in ribosomal RNA processing contribute to the phenotype of X-linked dyskeratosis congenita. "
01/10/2003 - "Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification."
|7.||DNA (Deoxyribonucleic Acid)IBA
07/01/1979 - "These data suggest that a heightened susceptibility in DNA cross-links may be of fundamental importance in the etiology of dyskeratosis congenita."
07/01/1979 - "Fast-sedimenting DNA persisted for 24 hr in dyskeratosis congenita cells but disappeared from normal cells during a 24-hr repair period. "
06/01/2014 - "Several studies have recently shown that germline mutations in RTEL1, an essential DNA helicase involved in telomere regulation and DNA repair, cause Hoyeraal-Hreidarsson syndrome (HHS), a severe form of dyskeratosis congenita. "
01/01/2009 - "It has been over one hundred years since the first reported case of dyskeratosis congenita (DC) and over twenty since the discovery of telomerase, an enzyme that adds telomeric DNA repeats to chromosome ends. "
01/01/1989 - "We studied the responses of several dyskeratosis congenita (DC) cell lines to the DNA strand-cleaving and base-damaging agent bleomycin. "
08/01/2013 - "In our study of 97 patients with an IBMFS, increased Hb F was associated with young age, male gender, anaemia, high erythropoietin levels, and alternative alleles in Xmn1-HBG2 [adjusted P = 0·04 for the total group, driven by Fanconi anaemia (P = 0·02) and dyskeratosis congenita (P = 0·09)]. "
04/01/2003 - "Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin."
05/01/1997 - "Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin."
11/15/2003 - "Individuals in our families with mutated TERC did not have physical signs of dyskeratosis congenita, and their blood counts were nearly normal, but all had severely shortened telomeres, reduced haemopoietic function, and raised serum erythropoietin and thrombopoietin. "
|9.||telomerase RNA (bTR)IBA
12/01/2015 - "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). "
01/01/2015 - "Dyskeratosis congenita (DC) is a disorder of poor telomere maintenance and is related to 1 or more mutations that involve the vertebrate telomerase RNA component. "
10/30/2014 - "Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous features, and others (TERC and TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent. "
09/01/2013 - "Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects."
09/01/2013 - "A point mutation in the TERC gene confirmed the diagnosis of AD-DC. Autosomal dominant dyskeratosis congenita is a rare form of inherited bone marrow failure and its presentation is milder than seen in patients with X-linked and autosomal recessive mutations. "
|10.||Bone Marrow failure syndromesIBA
01/01/2015 - "Overall, unlike in dyskeratosis congenita, telomere lengths in patients with non-dyskeratosis congenita inherited bone marrow failure syndromes were usually in the normal range, albeit shorter than in unaffected individuals. "
12/01/2013 - "Dyskeratosis congenita is a group of rare genetic bone marrow failure syndromes. "
03/01/2013 - "Based on phenotypic overlap we screened 73 genetically uncharacterized patients with dyskeratosis congenita and related bone marrow failure syndromes for mutations in this complex. "
09/01/2009 - "Telomere length (TL) is severely reduced in individuals with dyskeratosis congenita and a number of other bone marrow failure syndromes. "
11/01/2008 - "TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes."
|1.||Hematopoietic Stem Cell Transplantation
05/01/2015 - "Allogeneic hematopoietic stem cell transplantation (HSCT) is the only cure for marrow failure associated with dyskeratosis congenita (DC). "
05/01/2013 - "Hematopoietic stem cell transplantation (HSCT) for dyskeratosis congenita (DC) is challenging due to severe treatment-related adverse effects. "
03/01/2011 - "Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita."
12/01/2005 - "Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen."
02/01/2004 - "Recent clinical reports suggest that nonmyeloablative conditioning regimens afford better outcomes in patients with dyskeratosis congenita who require hematopoietic stem cell transplantation. "
|2.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
02/01/1999 - "Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation."
10/01/1998 - "Unusual complications after bone marrow transplantation for dyskeratosis congenita."
03/01/1996 - "The aplastic anaemia associated with dyskeratosis congenita can be successfully treated by allogeneic bone marrow transplantation; however, this approach does not reverse the other systemic manifestations of the syndrome. "
06/01/1992 - "Bone marrow transplantation for dyskeratosis congenita."
10/01/1991 - "Late vascular complications after bone marrow transplantation for dyskeratosis congenita."
05/01/1999 - "Bone marrow transplant for dyskeratosis congenita."
03/01/1996 - "Eight patients with aplastic anaemia associated with dyskeratosis congenita received allogeneic marrow grafts from either HLA-identical siblings (six patients) or HLA-matched unrelated donors (two patients). "
05/01/2003 - "Since the results of conventional hematopoietic stem-cell transplantation (HSCT) for patients with dyskeratosis congenita (DC) are poor owing to the high incidence of transplant-related complications, we explored the use of a low-intensity HSCT regimen. "
07/01/1985 - "A 33-year-old man with dyskeratosis congenita received a marrow transplant to treat severe pancytopenia. "
02/01/2014 - "Successful treatment with rituximab and mycophenolate mofetil of refractory autoimmune hemolytic anemia post-hematopoietic stem cell transplant for dyskeratosis congenita due to TINF2 mutation."
|4.||Transplantation (Transplant Recipients)
03/01/1996 - "Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita."
07/01/1985 - "- The outcome of transplantation in dyskeratosis congenita is compared to that in Fanconi's anaemia due to the resemblance of both diseases in some aspects."
08/01/2013 - "We describe outcomes after allogeneic transplantation in 34 patients with dyskeratosis congenita who underwent transplantation between 1981 and 2009. "
03/01/1996 - "The pathogenesis of the intestinal lung disease observed in dyskeratosis congenita patients following marrow transplantation is not understood."
07/01/1985 - "Marrow transplantation for pancytopenia in dyskeratosis congenita."
|5.||Stem Cell Transplantation
05/01/2013 - "Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation."
01/01/2012 - "We report a case of Graphium basitruncatum fungemia in a two year old child with dyskeratosis congenita who underwent stem cell transplantation two months prior to infection. "
09/01/2007 - "Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation."
07/01/2007 - "Allogeneic stem cell transplantation in a patient with dyskeratosis congenita after conditioning with low-dose cyclophosphamide and anti-thymocyte globulin."