The short and long telomere syndromes: paired paradigms for molecular medicine.
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[1] S. Savage,et al. Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder , 2015, British journal of haematology.
[2] Chibo Hong,et al. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer , 2015, Science.
[3] V. Plagnol,et al. Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. , 2015, The Journal of clinical investigation.
[4] S. E. Stanley,et al. Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis. , 2015, Chest.
[5] S. E. Stanley,et al. Telomere dysfunction causes alveolar stem cell failure , 2015, Proceedings of the National Academy of Sciences.
[6] S. Mane,et al. Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening , 2015, Nature Genetics.
[7] Zhongming Zhao,et al. Rare variants in RTEL1 are associated with familial interstitial pneumonia. , 2015, American journal of respiratory and critical care medicine.
[8] S. E. Stanley,et al. What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis. , 2015, American journal of respiratory and critical care medicine.
[9] Joshua D. Podlevsky,et al. Telomerase mutations in smokers with severe emphysema. , 2015, The Journal of clinical investigation.
[10] Thomas M. Keane,et al. Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. , 2015, Journal of the National Cancer Institute.
[11] G. Ribas,et al. Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk. , 2014, European journal of cancer.
[12] H. Hakonarson,et al. Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. , 2014, Blood.
[13] Y. Zhan,et al. RE: The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length. , 2014, Journal of the National Cancer Institute.
[14] S. Savage,et al. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1 , 2014, Genes & development.
[15] Leena Choi,et al. A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia. , 2014, Chest.
[16] P. Shah,et al. Lung transplantation in telomerase mutation carriers with pulmonary fibrosis , 2014, European Respiratory Journal.
[17] Thomas M. Keane,et al. POT1 loss-of-function variants predispose to familial melanoma , 2014, Nature Genetics.
[18] Jianxin Shi,et al. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma , 2014, Nature Genetics.
[19] Stephanie A. Santorico,et al. Cluster analysis in the COPDGene study identifies subtypes of smokers with distinct patterns of airway disease and emphysema , 2014, Thorax.
[20] K. Hemminki,et al. TERT promoter mutations in cancer development. , 2014, Current opinion in genetics & development.
[21] A. Auerbach,et al. Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1) Gene , 2013, Human mutation.
[22] S. Chanock,et al. Telomere Length and the Risk of Cutaneous Malignant Melanoma in Melanoma-Prone Families with and without CDKN2A Mutations , 2013, PloS one.
[23] A. Fischer,et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. , 2013, Human molecular genetics.
[24] V. Sondak,et al. Telomere length and risk of melanoma, squamous cell carcinoma, and basal cell carcinoma. , 2013, Cancer epidemiology.
[25] E. Montgomery,et al. The gastrointestinal manifestations of telomere‐mediated disease , 2013, Aging cell.
[26] K. Kinzler,et al. Cancer Genome Landscapes , 2013, Science.
[27] V. Plagnol,et al. Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita , 2013, American journal of human genetics.
[28] M. Armanios. Telomeres and age-related disease: how telomere biology informs clinical paradigms. , 2013, The Journal of clinical investigation.
[29] D. Schadendorf,et al. TERT Promoter Mutations in Familial and Sporadic Melanoma , 2013, Science.
[30] Lynda Chin,et al. Highly Recurrent TERT Promoter Mutations in Human Melanoma , 2013, Science.
[31] K. Jacobs,et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita , 2013, Human Genetics.
[32] Leslie A. Leinwand,et al. The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity , 2012, Nature.
[33] E. Blackburn,et al. The telomere syndromes , 2012, Nature Reviews Genetics.
[34] A. Aviv. Genetics of leukocyte telomere length and its role in atherosclerosis. , 2012, Mutation research.
[35] M. Armanios. Telomerase and idiopathic pulmonary fibrosis. , 2012, Mutation research.
[36] J. Manson,et al. Shorter telomeres associate with a reduced risk of melanoma development. , 2011, Cancer research.
[37] W. Mitzner,et al. Telomere length is a determinant of emphysema susceptibility. , 2011, American journal of respiratory and critical care medicine.
[38] Xiaodong Qi,et al. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. , 2011, Blood.
[39] P. Berggren,et al. Short Telomeres Compromise β-Cell Signaling and Survival , 2011, PloS one.
[40] P. Lansdorp,et al. Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis , 2011, PLoS genetics.
[41] Margaret A. Strong,et al. Short telomeres are sufficient to cause the degenerative defects associated with aging. , 2009, American journal of human genetics.
[42] T. Vulliamy,et al. Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia , 2009, Human mutation.
[43] M. Armanios. Syndromes of telomere shortening. , 2009, Annual review of genomics and human genetics.
[44] P. Rosenberg,et al. Cancer in dyskeratosis congenita. , 2009, Blood.
[45] T. Vulliamy,et al. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita , 2008, Proceedings of the National Academy of Sciences.
[46] L. Chin,et al. Telomere dysfunction promotes genome instability and metastatic potential in a K-ras p53 mouse model of lung cancer. , 2008, Carcinogenesis.
[47] T. Vulliamy,et al. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. , 2007, Blood.
[48] N. Orr,et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. , 2007, American journal of human genetics.
[49] J. de la Fuente,et al. Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation , 2007, Pediatric transplantation.
[50] T. Vulliamy,et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. , 2007, Human molecular genetics.
[51] D. Feldser,et al. Short telomeres limit tumor progression in vivo by inducing senescence. , 2007, Cancer cell.
[52] P. Lansdorp,et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. , 2007, The New England journal of medicine.
[53] T. Cech,et al. The POT1–TPP1 telomere complex is a telomerase processivity factor , 2007, Nature.
[54] G. Oster,et al. Incidence and prevalence of idiopathic pulmonary fibrosis. , 2006, American journal of respiratory and critical care medicine.
[55] E. Blackburn,et al. Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging , 2006, Nature Medicine.
[56] Margaret A. Strong,et al. Short Telomeres, even in the Presence of Telomerase, Limit Tissue Renewal Capacity , 2005, Cell.
[57] Yen-Pei Christy Chang,et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[58] S. Chanock,et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. , 2005, The New England journal of medicine.
[59] B. Chait,et al. POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. , 2004, Genes & development.
[60] A. Smogorzewska,et al. Regulation of telomerase by telomeric proteins. , 2004, Annual review of biochemistry.
[61] T. Vulliamy,et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC , 2004, Nature Genetics.
[62] N. Carter,et al. A DNA damage checkpoint response in telomere-initiated senescence , 2003, Nature.
[63] S. Chanock,et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. , 2003, Blood.
[64] D. Feldser,et al. Telomere dysfunction and the initiation of genome instability , 2003, Nature Reviews Cancer.
[65] T. Vulliamy,et al. Association between aplastic anaemia and mutations in telomerase RNA , 2002, The Lancet.
[66] T. Vulliamy,et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita , 2001, Nature.
[67] R. DePinho,et al. Telomere dysfunction and evolution of intestinal carcinoma in mice and humans , 2001, Nature Genetics.
[68] I. Dokal,et al. Dyskeratosis congenita in all its forms , 2000, British journal of haematology.
[69] K. Collins,et al. A telomerase component is defective in the human disease dyskeratosis congenita , 1999, Nature.
[70] L. Chin,et al. Short Dysfunctional Telomeres Impair Tumorigenesis in the INK4aΔ2/3 Cancer-Prone Mouse , 1999, Cell.
[71] Sandy Chang,et al. Longevity, Stress Response, and Cancer in Aging Telomerase-Deficient Mice , 1999, Cell.
[72] S. Klauck,et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions , 1998, Nature Genetics.
[73] R. DePinho,et al. Essential role of mouse telomerase in highly proliferative organs , 1998, Nature.
[74] María A Blasco,et al. Telomere Shortening and Tumor Formation by Mouse Cells Lacking Telomerase RNA , 1997, Cell.
[75] I. Weissman,et al. Telomerase activity in hematopoietic cells is associated with self-renewal potential. , 1996, Immunity.
[76] C B Harley,et al. Specific association of human telomerase activity with immortal cells and cancer. , 1994, Science.
[77] C B Harley,et al. Evidence for a mitotic clock in human hematopoietic stem cells: loss of telomeric DNA with age. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[78] C B Harley,et al. Telomere length predicts replicative capacity of human fibroblasts. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[79] C. Harley,et al. Telomeres shorten during ageing of human fibroblasts , 1990, Nature.
[80] E. Blackburn,et al. A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis , 1989, Nature.
[81] K. Kristjánsson,et al. A Syndrome of Progressive Pancytopenia with Microcephaly, Cerebellar Hypoplasia and Growth Failure , 1988, Acta paediatrica Scandinavica.
[82] Carol W. Greider,et al. The telomere terminal transferase of tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity , 1987, Cell.
[83] Carol W. Greider,et al. Identification of a specific telomere terminal transferase activity in tetrahymena extracts , 1985, Cell.
[84] E. Blackburn,et al. A tandemly repeated sequence at the termini of the extrachromosomal ribosomal RNA genes in Tetrahymena. , 1978, Journal of molecular biology.
[85] J. Lamvik,et al. CONGENITAL HYPOPLASTIC THROMBOCYTOPENIA AND CEREBRAL MALFORMATIONS IN TWO BROTHERS , 1970, Acta paediatrica Scandinavica.
[86] R. Gibbs,et al. Germline mutations in shelterin complex genes are associated with familial glioma. , 2015, Journal of the National Cancer Institute.
[87] T. Myers,et al. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. , 2011, Genes & development.
[88] J. Tolar,et al. Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita , 2011, Bone Marrow Transplantation.
[89] C. Greider. Telomerase RNA levels limit the telomere length equilibrium. , 2006, Cold Spring Harbor symposia on quantitative biology.
[90] I. Dokal. Inherited aplastic anaemia. , 2003, The hematology journal : the official journal of the European Haematology Association.
[91] Greider Cw. Cellular responses to telomere shortening: cellular senescence as a tumor suppressor mechanism. , 2000 .