Literature DB >> 31515401

Pulmonary fibrosis linked to variants in the ACD gene, encoding the telomere protein TPP1.

Thijs W Hoffman1, Joanne J van der Vis1,2, Jasper J van der Smagt3, Maarten P G Massink3, Jan C Grutters1,4, Coline H M van Moorsel5,4.   

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Year:  2019        PMID: 31515401     DOI: 10.1183/13993003.00809-2019

Source DB:  PubMed          Journal:  Eur Respir J        ISSN: 0903-1936            Impact factor:   33.795


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  6 in total

Review 1.  Genetics of human telomere biology disorders.

Authors:  Patrick Revy; Caroline Kannengiesser; Alison A Bertuch
Journal:  Nat Rev Genet       Date:  2022-09-23       Impact factor: 59.581

Review 2.  Insights into the Pathogenesis of Pulmonary Fibrosis from Genetic Diseases.

Authors:  Joanna Y Wang; Lisa R Young
Journal:  Am J Respir Cell Mol Biol       Date:  2022-07       Impact factor: 7.748

3.  Structure of active human telomerase with telomere shelterin protein TPP1.

Authors:  Baocheng Liu; Yao He; Yaqiang Wang; He Song; Z Hong Zhou; Juli Feigon
Journal:  Nature       Date:  2022-04-13       Impact factor: 69.504

4.  Are long telomeres better than short? Relative contributions of genetically predicted telomere length to neoplastic and non-neoplastic disease risk and population health burden.

Authors:  Ekaterina Protsenko; David Rehkopf; Aric A Prather; Elissa Epel; Jue Lin
Journal:  PLoS One       Date:  2020-10-08       Impact factor: 3.240

5.  Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.

Authors:  Gabrielle Henslee; Christopher L Williams; Pengfei Liu; Alison A Bertuch
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-02-19

6.  Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.

Authors:  Joseph Kelich; Tomas Aramburu; Joanne J van der Vis; Louise Showe; Andrew Kossenkov; Jasper van der Smagt; Maarten Massink; Angela Schoemaker; Eric Hennekam; Marcel Veltkamp; Coline H M van Moorsel; Emmanuel Skordalakes
Journal:  J Exp Med       Date:  2022-04-14       Impact factor: 17.579

  6 in total

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