The short and long telomere syndromes: paired paradigms for molecular medicine.

[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 .