Published in Blood on December 06, 2005
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet (2009) 5.62
Cancer in dyskeratosis congenita. Blood (2009) 4.28
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet (2008) 4.12
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood (2007) 3.86
Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev (2010) 3.24
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol (2010) 3.09
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood (2008) 3.02
The biogenesis and regulation of telomerase holoenzymes. Nat Rev Mol Cell Biol (2006) 2.94
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet (2007) 2.61
Dyskeratosis congenita. Hematol Oncol Clin North Am (2009) 2.45
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A (2008) 2.37
Human diseases of telomerase dysfunction: insights into tissue aging. Nucleic Acids Res (2007) 2.34
Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly. Cell (2008) 2.20
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. Genes Dev (2006) 2.20
Advances in the understanding of dyskeratosis congenita. Br J Haematol (2009) 2.05
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood (2007) 1.93
Architecture of human telomerase RNA. Proc Natl Acad Sci U S A (2011) 1.93
The genetics and clinical manifestations of telomere biology disorders. Genet Med (2010) 1.83
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica (2007) 1.80
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet (2011) 1.74
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica (2011) 1.71
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet (2013) 1.71
Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta (2009) 1.62
The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev (2007) 1.56
Physiological assembly and activity of human telomerase complexes. Mech Ageing Dev (2007) 1.56
The genetics of dyskeratosis congenita. Cancer Genet (2011) 1.50
Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica (2012) 1.45
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet (2010) 1.40
It all comes together at the ends: telomerase structure, function, and biogenesis. Mutat Res (2011) 1.36
Dyskeratosis congenita. FEBS Lett (2010) 1.36
Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res (2011) 1.35
Interstitial lung diseases in children. Orphanet J Rare Dis (2010) 1.28
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. Hum Mutat (2013) 1.27
Telomeres and immunological diseases of aging. Gerontology (2009) 1.22
Lung alveolar integrity is compromised by telomere shortening in telomerase-null mice. Am J Physiol Lung Cell Mol Physiol (2008) 1.22
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants. J Biol Chem (2009) 1.17
Genome-wide association study of relative telomere length. PLoS One (2011) 1.16
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. PLoS One (2011) 1.16
Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review. BMC Blood Disord (2011) 1.12
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2. Clin Genet (2011) 1.08
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Am J Hum Genet (2012) 1.07
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. Mol Cell (2015) 1.03
Recent insights into the molecular mechanisms involved in aging and the malignant transformation of adult stem/progenitor cells and their therapeutic implications. Ageing Res Rev (2008) 1.02
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol (2015) 1.01
A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia. Chest (2014) 1.01
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia. Br J Haematol (2012) 1.01
Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita. Blood (2012) 0.99
Disease-associated human telomerase RNA variants show loss of function for telomere synthesis without dominant-negative interference. Mol Cell Biol (2008) 0.98
Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes. Blood Cells Mol Dis (2007) 0.92
Clinical utility gene card for: dyskeratosis congenita. Eur J Hum Genet (2011) 0.91
Accelerated in vivo epidermal telomere loss in Werner syndrome. Aging (Albany NY) (2011) 0.91
Dyskeratosis congenita- management and review of complications: a case report. Oman Med J (2013) 0.89
Telomere dysfunction in human diseases: the long and short of it! Int J Clin Exp Pathol (2009) 0.89
Recent insights into inherited bone marrow failure syndromes. Curr Opin Pediatr (2012) 0.88
The H/ACA RNP assembly factor SHQ1 functions as an RNA mimic. Genes Dev (2011) 0.87
Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies. Curr Pharmacogenomics Person Med (2010) 0.87
RNA-guided isomerization of uridine to pseudouridine--pseudouridylation. RNA Biol (2014) 0.87
Clinical utility gene card for: Dyskeratosis congenita - update 2015. Eur J Hum Genet (2014) 0.86
Generation of mice with longer and better preserved telomeres in the absence of genetic manipulations. Nat Commun (2016) 0.86
Cellular senescence as a target in cancer control. J Aging Res (2010) 0.85
Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers. ORL J Otorhinolaryngol Relat Spec (2010) 0.85
A novel telomerase activator suppresses lung damage in a murine model of idiopathic pulmonary fibrosis. PLoS One (2013) 0.85
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. Blood (2013) 0.83
Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood. Front Pediatr (2015) 0.82
Telomere dysfunction in human bone marrow failure syndromes. Nucleus (2011) 0.82
The coding/non-coding overlapping architecture of the gene encoding the Drosophila pseudouridine synthase. BMC Mol Biol (2007) 0.82
Medical genetics and epigenetics of telomerase. J Cell Mol Med (2011) 0.82
Incorporating genetics into the identification and treatment of Idiopathic Pulmonary Fibrosis. BMC Med (2015) 0.82
A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome. BMC Med Genet (2014) 0.81
Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? Psychosomatics (2012) 0.81
POT of gold: modeling dyskeratosis congenita in the mouse. Genes Dev (2008) 0.81
Triallelic and epigenetic-like inheritance in human disorders of telomerase. Blood (2015) 0.81
Variable expression of Dkc1 mutations in mice. Genesis (2009) 0.81
Peripheral blood lymphocyte telomere length as a predictor of response to immunosuppressive therapy in childhood aplastic anemia. Haematologica (2014) 0.80
Genetic and environmental factors influencing human diseases with telomere dysfunction. Int J Clin Exp Med (2009) 0.80
Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients. PLoS One (2015) 0.80
Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain. Clin Transl Oncol (2012) 0.79
Expression of the genetic suppressor element 24.2 (GSE24.2) decreases DNA damage and oxidative stress in X-linked dyskeratosis congenita cells. PLoS One (2014) 0.78
Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita. Int Ophthalmol (2012) 0.77
Pneumococcal vaccine failure: can it be a primary immunodeficiency? BMJ Case Rep (2014) 0.77
Functional characterization of mutations in the promoter proximal region of the telomerase hTERC gene identified in patients with hematological disorders. Int J Clin Exp Med (2011) 0.77
Dyskeratosis congenita with malignant transformation. BMJ Case Rep (2011) 0.76
TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. Bone Marrow Transplant (2016) 0.76
A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation. Biol Blood Marrow Transplant (2016) 0.76
In silico discrimination of nsSNPs in hTERT gene by means of local DNA sequence context and regularity. J Mol Model (2013) 0.76
Dyskeratosis congenita induced cirrhosis for liver transplantation-perioperative management. Indian J Anaesth (2015) 0.75
Telomeres in aging and disease: lessons from zebrafish. Dis Model Mech (2016) 0.75
Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases. J Biol Chem (2016) 0.75
Dyskeratosis congenita in a Nigerian boy. Niger Med J (2014) 0.75
Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease. Cancer Med (2017) 0.75
Progress and prospects in rat genetics: a community view. Nat Genet (2008) 6.01
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet (2004) 4.63
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Nat Genet (2005) 4.57
Association between aplastic anaemia and mutations in telomerase RNA. Lancet (2002) 4.02
Guidelines for the diagnosis and management of aplastic anaemia. Br J Haematol (2009) 3.19
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis (2005) 3.12
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood (2008) 3.02
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet (2007) 2.61
Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med (2011) 2.41
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci U S A (2008) 2.37
Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly. Cell (2008) 2.20
Advances in the understanding of dyskeratosis congenita. Br J Haematol (2009) 2.05
Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc Natl Acad Sci U S A (2004) 2.01
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood (2008) 1.99
3'UTR-truncated Hmga2 cDNA causes MPN-like hematopoiesis by conferring a clonal growth advantage at the level of HSC in mice. Blood (2011) 1.96
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood (2007) 1.93
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. Blood (2013) 1.82
The role of human ribosomal proteins in the maturation of rRNA and ribosome production. RNA (2008) 1.81
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica (2007) 1.80
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. Hum Mutat (2009) 1.78
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet (2013) 1.71
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. Blood Cells Mol Dis (2007) 1.68
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Blood (2012) 1.68
Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta (2009) 1.62
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood (2004) 1.60
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood (2004) 1.58
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat Genet (2003) 1.58
The effect of TERC haploinsufficiency on the inheritance of telomere length. Proc Natl Acad Sci U S A (2005) 1.56
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A (2010) 1.53
Dyskeratosis congenita: telomerase, telomeres and anticipation. Curr Opin Genet Dev (2005) 1.50
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplant (2007) 1.45
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet (2010) 1.40
Dyskeratosis Congenita: a historical perspective. Mech Ageing Dev (2007) 1.39
The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (Ser473) phosphorylation. J Immunol (2007) 1.38
A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice. Proc Natl Acad Sci U S A (2008) 1.37
Dyskeratosis congenita. FEBS Lett (2010) 1.36
Dyskeratosis congenita. Semin Hematol (2006) 1.34
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene (2002) 1.31
Fanconi anaemia and leukaemia - clinical and molecular aspects. Br J Haematol (2004) 1.26
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood (2007) 1.26
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. Br J Haematol (2012) 1.22
Dyskeratosis congenita: the first NIH clinical research workshop. Pediatr Blood Cancer (2009) 1.22
Dyskeratosis congenita: a disorder of defective telomere maintenance? Int J Hematol (2005) 1.22
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. J Clin Invest (2015) 1.16
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. PLoS One (2011) 1.16
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). Am J Med Genet A (2003) 1.16
Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. J Pediatr Hematol Oncol (2006) 1.15
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr (2003) 1.11
Inherited bone marrow failure syndromes. Haematologica (2010) 1.09
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Am J Hum Genet (2012) 1.07
Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients. Br J Haematol (2008) 1.06
Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Aging Cell (2007) 1.05
A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria. BMC Blood Disord (2004) 1.05
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet (2012) 1.05
Bone marrow transplantation for beta-thalassaemia major: the UK experience in two paediatric centres. Br J Haematol (2003) 1.05
Dyskerin ablation in mouse liver inhibits rRNA processing and cell division. Mol Cell Biol (2009) 1.01
Ataxia and pancytopenia caused by a mutation in TINF2. Hum Genet (2008) 1.00
Murine hexose-6-phosphate dehydrogenase: a bifunctional enzyme with broad substrate specificity and 6-phosphogluconolactonase activity. Arch Biochem Biophys (2003) 0.98
What's in a name? J Clin Invest (2012) 0.98
Dyskeratosis congenita and telomerase. Curr Opin Pediatr (2004) 0.98
TINF2 mutations in children with severe aplastic anemia. Pediatr Blood Cancer (2009) 0.97
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol (2002) 0.96
Dyskerin, telomerase and the DNA damage response. Cell Cycle (2009) 0.96
Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran. Br J Haematol (2002) 0.95
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. Haematologica (2008) 0.95
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. Haematologica (2011) 0.93
Dyskeratosis congenita and the DNA damage response. Br J Haematol (2011) 0.92
Haematological recovery in dyskeratosis congenita patients treated with danazol. Br J Haematol (2013) 0.92
A unique insertion in Plasmodium berghei glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase: evolutionary and functional studies. Mol Biochem Parasitol (2003) 0.89
Inherited bone marrow failure syndromes in adolescents and young adults. Ann Med (2014) 0.88
A label-free proteome analysis strategy for identifying quantitative changes in erythrocyte membranes induced by red cell disorders. J Proteomics (2012) 0.88
Animal models of Diamond Blackfan anemia. Semin Hematol (2011) 0.88
Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations. FEBS Lett (2009) 0.87
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. Expert Rev Mol Med (2004) 0.87
Total deletion of in vivo telomere elongation capacity: an ambitious but possibly ultimate cure for all age-related human cancers. Ann N Y Acad Sci (2004) 0.87