| scholarly article | Q13442814 |
| P50 | author | Richard Szydlo | Q42341723 |
| P2093 | author name string | Inderjeet Dokal | |
| Tom Vulliamy | |||
| Philip J Mason | |||
| Amanda Walne | |||
| Anna Marrone | |||
| P2860 | cites work | A telomerase component is defective in the human disease dyskeratosis congenita | Q22010917 |
| X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions | Q24317067 | ||
| The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita | Q28189076 | ||
| Telomere length regulation | Q28290143 | ||
| Telomere shortening and tumor formation by mouse cells lacking telomerase RNA | Q29615386 | ||
| Function and synthesis of small nucleolar RNAs | Q29618483 | ||
| In vivo telomere dynamics of human hematopoietic stem cells | Q33726870 | ||
| Haploinsufficiency of mTR results in defects in telomere elongation | Q34019216 | ||
| Dyskeratosis congenita in all its forms | Q34071682 | ||
| Expanded repeat sequences and disease | Q34795207 | ||
| Structure and polymorphism of human telomere-associated DNA. | Q41718575 | ||
| Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs | Q46833369 | ||
| Extensive allelic variation and ultrashort telomeres in senescent human cells. | Q53659799 | ||
| Association between aplastic anaemia and mutations in telomerase RNA | Q59463050 | ||
| Telomere length in leukocyte subpopulations of patients with aplastic anemia | Q73399950 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | dyskeratosis congenita | Q3709312 |
| P304 | page(s) | 447-449 | |
| P577 | publication date | 2004-04-18 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. | |
| P478 | volume | 36 |
| Q37541040 | A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice |
| Q33707480 | A common variant in the telomerase RNA component is associated with short telomere length |
| Q64387997 | A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination |
| Q36814605 | A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome |
| Q33813870 | A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome |
| Q50690869 | A non-canonical function of telomerase RNA in the regulation of developmental myelopoiesis in zebrafish. |
| Q37489498 | A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome |
| Q37966835 | A role for sister telomere cohesion in telomere elongation by telomerase |
| Q35930629 | Abnormal telomere shortening of peripheral blood mononuclear cells and granulocytes in patients with chronic idiopathic neutropenia. |
| Q35759839 | Adult-onset pulmonary fibrosis caused by mutations in telomerase |
| Q29032085 | Advances in the understanding of dyskeratosis congenita |
| Q47782009 | Altered expression of telomere-associated genes in leukocytes among BRCA1 and BRCA2 carriers |
| Q61195888 | Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome |
| Q34208265 | Architecture of human telomerase RNA. |
| Q34288671 | Ascertainment bias causes false signal of anticipation in genetic prion disease |
| Q34280216 | Beyond average: potential for measurement of short telomeres. |
| Q34431411 | Bone marrow failure and the telomeropathies |
| Q36918634 | Cancer and ageing: convergent and divergent mechanisms |
| Q60284598 | Cdkn1a deletion improves stem cell function and lifespan of mice with dysfunctional telomeres without accelerating cancer formation |
| Q35815320 | Cellular senescence and organismal aging |
| Q36591308 | Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita |
| Q33814333 | Chemistry in human telomere biology: structure, function and targeting of telomere DNA/RNA. |
| Q36532681 | Cold-inducible RNA-binding protein CIRP/hnRNP A18 regulates telomerase activity in a temperature-dependent manner |
| Q36407137 | Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene |
| Q36270161 | Congenital bone marrow failure involving the red blood cells |
| Q37064640 | Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia |
| Q34862975 | Constitutional telomerase mutations are genetic risk factors for cirrhosis |
| Q39176621 | Control of Cellular Aging, Tissue Function, and Cancer by p53 Downstream of Telomeres |
| Q36199213 | Critical role of the POT1 OB domain in maintaining genomic stability |
| Q36793537 | Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs |
| Q39549181 | Deficiency in DNA mismatch repair increases the rate of telomere shortening in normal human cells. |
| Q37598758 | Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. |
| Q35534473 | Diagnosis of Fanconi anemia by diepoxybutane analysis |
| Q34023475 | Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations |
| Q21090064 | Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome |
| Q34452324 | Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita |
| Q36346209 | Divergence of sperm and leukocyte age-dependent telomere dynamics: implications for male-driven evolution of telomere length in humans |
| Q50054621 | Dysfunctional telomeres and hematological disorders. |
| Q58388056 | Dyskeratosis congenita |
| Q84282108 | Dyskeratosis congenita |
| Q35529338 | Dyskeratosis congenita as a disorder of telomere maintenance |
| Q33416762 | Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy |
| Q37201718 | Dyskeratosis congenita, stem cells and telomeres |
| Q36278279 | Dyskeratosis congenita: a disorder of defective telomere maintenance? |
| Q33315749 | Dyskerin is a component of the Arabidopsis telomerase RNP required for telomere maintenance. |
| Q34060344 | Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: an observational cohort study with independent validation. |
| Q53388774 | Effects of p21 deletion in mouse models of premature aging. |
| Q37175576 | Elevated risk of chronic lymphocytic leukemia and other indolent non-Hodgkin's lymphomas among relatives of patients with chronic lymphocytic leukemia |
| Q36802825 | Engineered telomere degradation models dyskeratosis congenita |
| Q35604048 | Essential roles for Pot1b in HSC self-renewal and survival |
| Q90485064 | Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita |
| Q35570923 | Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis |
| Q33297433 | Exonuclease-1 deletion impairs DNA damage signaling and prolongs lifespan of telomere-dysfunctional mice |
| Q35888716 | Familial aggregation of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia with solid tumors and myeloid malignancies |
| Q52345322 | Familial multiple sclerosis and association with other autoimmune diseases. |
| Q33395458 | Familial myelodysplastic syndromes: a review of the literature |
| Q41984776 | Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus |
| Q38587235 | Functional characterization of mutations in the promoter proximal region of the telomerase hTERC gene identified in patients with hematological disorders. |
| Q33943465 | Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations |
| Q81473730 | Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome |
| Q34506827 | Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies |
| Q64106199 | Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes |
| Q33987513 | Genetic anticipation is associated with telomere shortening in hereditary breast cancer. |
| Q38210815 | Genetic determinants of pulmonary fibrosis: evolving concepts |
| Q24597936 | Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 |
| Q24626239 | Genetic interstitial lung disease |
| Q38733102 | Genetic predisposition to hematologic malignancies: management and surveillance |
| Q89629357 | Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study |
| Q38950667 | Genetics of syndromic and non-syndromic hereditary nail disorders |
| Q37442322 | Genetics- and immune-related factors in the pathogenesis of lymphoplasmacytic lymphoma/ Waldenström's macroglobulinemia |
| Q36691743 | Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita |
| Q24536887 | Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita |
| Q36361693 | Hematopoietic lineage skewing and intestinal epithelia degeneration in aged mice with telomerase RNA component deletion |
| Q36360681 | Human diseases of telomerase dysfunction: insights into tissue aging |
| Q37905799 | Human telomerase expression regulation |
| Q35848013 | Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita |
| Q34146318 | InTERTpreting telomerase structure and function |
| Q53364208 | Increased hTR expression during transition from adenoma to carcinoma is not associated with promoter methylation. |
| Q64093013 | Intra-Familial Phenotypic Heterogeneity and Telomere Abnormality in von Hippel- Lindau Disease: Implications for Personalized Surveillance Plan and Pathogenesis of VHL-Associated Tumors |
| Q33717429 | Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants |
| Q38685296 | Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation? |
| Q40615400 | Isolation of chromatin from dysfunctional telomeres reveals an important role for Ring1b in NHEJ-mediated chromosome fusions |
| Q26823394 | It all comes together at the ends: telomerase structure, function, and biogenesis |
| Q34052757 | Leukocyte telomere length is associated with disability in older u.s. Population. |
| Q31083664 | Longitudinal data on telomere length in leukocytes from newborn baboons support a marked drop in stem cell turnover around 1 year of age. |
| Q30441223 | Low abundance of telomerase in yeast: implications for telomerase haploinsufficiency |
| Q40675389 | Measurement of Average Telomere Length in Ex Vivo Expanded Natural Killer Cells by Fluorescence In Situ Hybridization (FISH) and Flow Cytometry |
| Q37842742 | Medical genetics and epigenetics of telomerase |
| Q38637721 | Molecular basis of telomere dysfunction in human genetic diseases |
| Q46627460 | Non-telomeric epigenetic and genetic changes are associated with the inheritance of shorter telomeres in mice. |
| Q50868152 | Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. |
| Q43078252 | On telomeres long and short |
| Q35126202 | Oral and dental phenotype of dyskeratosis congenita |
| Q42535894 | POT of gold: modeling dyskeratosis congenita in the mouse |
| Q35057063 | Partial pneumonectomy of telomerase null mice carrying shortened telomeres initiates cell growth arrest resulting in a limited compensatory growth response |
| Q37070448 | Pathophysiology and management of inherited bone marrow failure syndromes |
| Q35096706 | Phenotypes in mTERT⁺/⁻ and mTERT⁻/⁻ mice are due to short telomeres, not telomere-independent functions of telomerase reverse transcriptase |
| Q37022486 | Physiological assembly and activity of human telomerase complexes |
| Q42045721 | Postnatal telomere dysfunction induces cardiomyocyte cell-cycle arrest through p21 activation |
| Q33378030 | Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita |
| Q37137741 | Premature aging in telomerase-deficient zebrafish |
| Q36048936 | Progerin reduces LAP2α-telomere association in Hutchinson-Gilford progeria. |
| Q38995612 | Pulmonary fibrosis in the era of stratified medicine. |
| Q37073883 | Recognizing familial myeloid leukemia in adults |
| Q34665706 | Regulation of senescence in cancer and aging |
| Q33565365 | Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization |
| Q43255976 | Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita |
| Q34255048 | Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. |
| Q36861819 | Short telomeres are a risk factor for idiopathic pulmonary fibrosis |
| Q37466143 | Short telomeres are sufficient to cause the degenerative defects associated with aging |
| Q34563497 | Short telomeres, even in the presence of telomerase, limit tissue renewal capacity |
| Q51773652 | Shortened telomeres: a driving force behind leukemia? |
| Q38128471 | Stem cell function and maintenance - ends that matter: role of telomeres and telomerase |
| Q36642791 | Stress, social rank and leukocyte telomere length |
| Q35201853 | Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations |
| Q35030917 | Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase |
| Q33638357 | Syndromes of telomere shortening |
| Q39752449 | TER1, the RNA subunit of fission yeast telomerase |
| Q37041915 | TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. |
| Q35067743 | TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase |
| Q24318921 | TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes |
| Q24680286 | Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita |
| Q34569385 | Telomerase and cancer stem cells |
| Q37078833 | Telomerase and cancer therapeutics |
| Q26825080 | Telomerase and idiopathic pulmonary fibrosis |
| Q36255500 | Telomerase dysfunction and dyskeratosis congenita |
| Q92234976 | Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family |
| Q29615671 | Telomerase mutations in families with idiopathic pulmonary fibrosis |
| Q38879091 | Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients with acute myeloid leukemia (AML). |
| Q36973951 | Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome |
| Q33899947 | Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome |
| Q36119587 | Telomerase reverses epidermal hair follicle stem cell defects and loss of long-term survival associated with critically short telomeres |
| Q38587987 | Telomere Dysfunction, Chromosomal Instability and Cancer. |
| Q36511640 | Telomere and adaptive immunity |
| Q33613946 | Telomere biology and translational research. |
| Q36107376 | Telomere diseases |
| Q35563251 | Telomere dynamics in induced pluripotent stem cells: Potentials for human disease modeling |
| Q37091301 | Telomere dynamics in mice and humans |
| Q37974664 | Telomere dysfunction and its role in haematological cancer. |
| Q90095379 | Telomere dysfunction impairs epidermal stem cell specification and differentiation by disrupting BMP/pSmad/P63 signaling |
| Q37885748 | Telomere dysfunction in human bone marrow failure syndromes |
| Q37268900 | Telomere dysfunction in human diseases: the long and short of it! |
| Q58379782 | Telomere dysfunction induces environmental alterations limiting hematopoietic stem cell function and engraftment |
| Q53609091 | Telomere instability in the male germline. |
| Q34700165 | Telomere length and genetic anticipation in Lynch syndrome |
| Q36556488 | Telomere length dynamics in normal hematopoiesis and in disease states characterized by increased stem cell turnover |
| Q34410927 | Telomere length homeostasis requires that telomerase levels are limiting |
| Q80475292 | Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age |
| Q34420854 | Telomere length is shorter in affected members of families with familial nonmedullary thyroid cancer |
| Q48967970 | Telomere length of patients with major depression is shortened but independent from therapy and severity of the disease |
| Q34689235 | Telomere length, stem cells and aging |
| Q33587591 | Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations |
| Q36591289 | Telomere maintenance and human bone marrow failure |
| Q38060615 | Telomere shortening and Alzheimer's disease. |
| Q24617599 | Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells |
| Q27004080 | Telomere shortening in human diseases |
| Q36904429 | Telomeres and age-related disease: how telomere biology informs clinical paradigms |
| Q34768068 | Telomeres and aging |
| Q33347458 | Telomeres and disease |
| Q29615353 | Telomeres and human disease: ageing, cancer and beyond |
| Q34051060 | Telomeres and immunological diseases of aging |
| Q37033248 | Telomeres and mitochondria in the aging heart |
| Q34571596 | Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging |
| Q37761836 | Telomeres and thyroid cancer |
| Q47670265 | Telomeres in dyskeratosis congenita |
| Q38101746 | Telomeres in lung disease |
| Q37234286 | The Genetic Basis of Natural Variation in Caenorhabditis elegans Telomere Length. |
| Q53835622 | The age of heterozygous telomerase mutant parents influences the adult phenotype of their offspring irrespective of genotype in zebrafish. |
| Q34144616 | The effect of TERC haploinsufficiency on the inheritance of telomere length |
| Q37300909 | The genetics and clinical manifestations of telomere biology disorders |
| Q24599906 | The genetics of dyskeratosis congenita |
| Q33796552 | The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia |
| Q90950675 | The relationship between MUC5B promoter, TERT polymorphisms and telomere lengths with radiographic extent and survival in a Chinese IPF cohort |
| Q36516357 | The role of telomere biology in bone marrow failure and other disorders |
| Q38035437 | The role of telomere shortening in somatic stem cells and tissue aging: lessons from telomerase model systems |
| Q26800388 | The short and long telomere syndromes: paired paradigms for molecular medicine |
| Q24632444 | The telomere syndromes |
| Q38561757 | The wide-ranging clinical implications of the short telomere syndromes |
| Q91622811 | Translational research in pulmonary fibrosis |
| Q36070801 | Triallelic and epigenetic-like inheritance in human disorders of telomerase |
| Q36953271 | Ulcerative colitis is a disease of accelerated colon aging: evidence from telomere attrition and DNA damage. |
| Q26779192 | Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs |
| Q37585471 | Understanding telomere diseases through analysis of patient-derived iPS cells |
| Q34474968 | Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder |
| Q38115589 | Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders |
| Q28282704 | Variation at the TERT locus and predisposition for cancer |
| Q35989413 | Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita |
| Q54496749 | [Dyskeratosis congenita: short telomeres are not the rule]. |
| Q53088995 | p53 pathway activation by telomere attrition in X-DC primary fibroblasts occurs in the absence of ribosome biogenesis failure and as a consequence of DNA damage. |
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