mRNA deadenylation and telomere disease.

PubWeight™: 0.78‹?›

🔗 View Article (PMID 25893598)

Published in J Clin Invest on April 20, 2015

Authors

Philip J Mason, Monica Bessler

Articles cited by this

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature (2001) 7.95

A telomerase component is defective in the human disease dyskeratosis congenita. Nature (1999) 7.91

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet (1998) 6.82

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A (2005) 4.64

The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase. Genes Dev (1998) 3.60

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis (2005) 3.12

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol (2010) 3.09

Cbf5p, a potential pseudouridine synthase, and Nhp2p, a putative RNA-binding protein, are present together with Gar1p in all H BOX/ACA-motif snoRNPs and constitute a common bipartite structure. RNA (1998) 2.49

Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells. Cell Stem Cell (2012) 2.26

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood (2014) 1.64

Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet (1986) 1.62

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. J Clin Invest (2015) 1.16

Nuclear deadenylation/polyadenylation factors regulate 3' processing in response to DNA damage. EMBO J (2010) 1.08

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res (2013) 1.08

Mutant mice lacking the p53 C-terminal domain model telomere syndromes. Cell Rep (2013) 1.02

Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome. Adv Biol Regul (2012) 1.01

The PARN deadenylase targets a discrete set of mRNAs for decay and regulates cell motility in mouse myoblasts. PLoS Genet (2012) 1.00

Positive and negative feedback loops in the p53 and mRNA 3' processing pathways. Proc Natl Acad Sci U S A (2013) 0.98

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. J Med Genet (1998) 0.90

The p53/p21(WAF/CIP) pathway mediates oxidative stress and senescence in dyskeratosis congenita cells with telomerase insufficiency. Antioxid Redox Signal (2011) 0.89

p53 expression in dyskeratosis congenita: a marker for oral premalignancy? J Clin Pathol (1993) 0.86

The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13. Cytogenet Cell Genet (1999) 0.84

Damage control and its costs: BM failure in Fanconi anemia stems from overactive p53/p21. Cell Stem Cell (2012) 0.77

Articles by these authors

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet (2004) 4.63

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol (2008) 4.41

Association between aplastic anaemia and mutations in telomerase RNA. Lancet (2002) 4.02

Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood (2005) 3.71

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood (2005) 3.30

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis (2005) 3.12

Multicenter phase 3 study of the complement inhibitor eculizumab for the treatment of patients with paroxysmal nocturnal hemoglobinuria. Blood (2007) 2.76

Effect of the complement inhibitor eculizumab on thromboembolism in patients with paroxysmal nocturnal hemoglobinuria. Blood (2007) 2.36

Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly. Cell (2008) 2.20

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

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

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

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

The genetics of dyskeratosis congenita. Cancer Genet (2011) 1.50

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

Effect of eculizumab on haemolysis-associated nitric oxide depletion, dyspnoea, and measures of pulmonary hypertension in patients with paroxysmal nocturnal haemoglobinuria. Br J Haematol (2010) 1.35

Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. Blood (2004) 1.33

Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene (2002) 1.31

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood (2007) 1.26

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. J Pediatr Hematol Oncol (2006) 1.15

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia. N Engl J Med (2015) 1.10

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

Dyskerin ablation in mouse liver inhibits rRNA processing and cell division. Mol Cell Biol (2009) 1.01

ScFv-mediated in vivo targeting of DAF to erythrocytes inhibits lysis by complement. Mol Immunol (2004) 1.00

Murine hexose-6-phosphate dehydrogenase: a bifunctional enzyme with broad substrate specificity and 6-phosphogluconolactonase activity. Arch Biochem Biophys (2003) 0.98

Dyskeratosis congenita and telomerase. Curr Opin Pediatr (2004) 0.98

What's in a name? J Clin Invest (2012) 0.98

Baseline characteristics and disease burden in patients in the International Paroxysmal Nocturnal Hemoglobinuria Registry. Haematologica (2014) 0.97

TINF2 mutations in children with severe aplastic anemia. Pediatr Blood Cancer (2009) 0.97

Dyskerin, telomerase and the DNA damage response. Cell Cycle (2009) 0.96

Human telomerase RNA mutations and bone marrow failure. Lancet (2003) 0.96

Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran. Br J Haematol (2002) 0.95

Clinical utility gene card for: dyskeratosis congenita. Eur J Hum Genet (2011) 0.91

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

Recent insights into inherited bone marrow failure syndromes. Curr Opin Pediatr (2012) 0.88

Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Pediatr Blood Cancer (2013) 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

Transient silencing of Plasmodium falciparum bifunctional glucose-6-phosphate dehydrogenase- 6-phosphogluconolactonase. FEBS J (2006) 0.87

Accelerated hematopoietic stem cell aging in a mouse model of dyskeratosis congenita responds to antioxidant treatment. Aging Cell (2011) 0.87

Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations. FEBS Lett (2009) 0.87

Dysfunctional telomeres and dyskeratosis congenita. Haematologica (2007) 0.86

Bone marrow failure in Shwachman-Diamond syndrome does not select for clonal haematopoiesis of the paroxysmal nocturnal haemoglobinuria phenotype. Br J Haematol (2002) 0.86

Acquired aplastic anemia in children. Pediatr Clin North Am (2013) 0.86

Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. Blood (2002) 0.85

A four base pair insertion in exon 1 of the RPS19 gene is a common polymorphism in African-Americans. Br J Haematol (2006) 0.85

Deletion or replacement of the second EGF-like domain of protein S results in loss of APC cofactor activity. Blood (2002) 0.83

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. Br J Haematol (2013) 0.83

Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer (2010) 0.82

A novel mechanism of complement-independent clearance of red cells deficient in glycosyl phosphatidylinositol-linked proteins. Blood (2003) 0.82

Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. Br J Haematol (2012) 0.81

SnoRNA microarray analysis reveals changes in H/ACA and C/D RNA levels caused by dyskerin ablation in mouse liver. Biochem J (2010) 0.81

Variable expression of Dkc1 mutations in mice. Genesis (2009) 0.81

Heterozygous telomerase deficiency in mouse and man: when less is definitely not more. Cell Cycle (2004) 0.80

Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin. FEBS Lett (2013) 0.80

Expression of Plasmodium falciparum G6PD-6PGL in laboratory parasites and in patient isolates in G6PD-deficient and normal Nigerian children. Br J Haematol (2003) 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

G-CSF induced progenitor mobilization in mice with PIGA- blood cells. Hematol J (2004) 0.78

The effect of GPI-anchor deficiency on apoptosis in mice carrying a Piga gene mutation in hematopoietic cells. J Leukoc Biol (2002) 0.78

Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients. Am J Hematol (2013) 0.77