Literature DB >> 30064976

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

Hemanth Tummala1, Laura C Collopy1, Amanda J Walne1, Alicia Ellison1, Shirleny Cardoso1, Tekin Aksu2, Nese Yarali2, Deniz Aslan3, Rüştü Fikret Akata4, Juliana Teo5, Zhou Songyang6, Nikolas Pontikos7, Jude Fitzgibbon8, Kazunori Tomita9, Tom Vulliamy1, Inderjeet Dokal1.   

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Year:  2018        PMID： 30064976      PMCID： PMC6293869          DOI： 10.1182/blood-2018-03-837799

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   25.476


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  18 in total

1.  Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.

Authors:  Deniz Aslan; Rustu F Akata; Harriet Holme; Tom Vulliamy; Inderjeet Dokal
Journal:  Int Ophthalmol       Date:  2012-07-20       Impact factor: 2.031

Review 2.  Bone marrow failure and the telomeropathies.

Authors:  Danielle M Townsley; Bogdan Dumitriu; Neal S Young
Journal:  Blood       Date:  2014-09-18       Impact factor: 22.113

3.  The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity.

Authors:  Jayakrishnan Nandakumar; Caitlin F Bell; Ina Weidenfeld; Arthur J Zaug; Leslie A Leinwand; Thomas R Cech
Journal:  Nature       Date:  2012-10-24       Impact factor: 69.504

Review 4.  Shelterin: the protein complex that shapes and safeguards human telomeres.

Authors:  Titia de Lange
Journal:  Genes Dev       Date:  2005-09-15       Impact factor: 12.890

5.  The POT1-TPP1 telomere complex is a telomerase processivity factor.

Authors:  Feng Wang; Elaine R Podell; Arthur J Zaug; Yuting Yang; Paul Baciu; Thomas R Cech; Ming Lei
Journal:  Nature       Date:  2007-01-21       Impact factor: 69.504

6.  Structural and functional consequences of a disease mutation in the telomere protein TPP1.

Authors:  Kamlesh Bisht; Eric M Smith; Valerie M Tesmer; Jayakrishnan Nandakumar
Journal:  Proc Natl Acad Sci U S A       Date:  2016-11-02       Impact factor: 12.779

7.  Dyskeratosis congenita and the DNA damage response.

Authors:  Michael Kirwan; Richard Beswick; Amanda J Walne; Upal Hossain; Colin Casimir; Tom Vulliamy; Inderjeet Dokal
Journal:  Br J Haematol       Date:  2011-04-08       Impact factor: 6.998

8.  DNA damage responses and oxidative stress in dyskeratosis congenita.

Authors:  Larisa Pereboeva; Erik Westin; Toral Patel; Ian Flaniken; Lawrence Lamb; Aloysius Klingelhutz; Frederick Goldman
Journal:  PLoS One       Date:  2013-10-04       Impact factor: 3.240

9.  Telomerase activation after recruitment in fission yeast.

Authors:  Christine Anne Armstrong; Siân Rosanna Pearson; Hanna Amelina; Vera Moiseeva; Kazunori Tomita
Journal:  Curr Biol       Date:  2014-08-14       Impact factor: 10.834

10.  The N Terminus of the OB Domain of Telomere Protein TPP1 Is Critical for Telomerase Action.

Authors:  Sherilyn Grill; Valerie M Tesmer; Jayakrishnan Nandakumar
Journal:  Cell Rep       Date:  2018-01-30       Impact factor: 9.995
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  6 in total

1.  Combining conservation and species-specific differences to determine how human telomerase binds telomeres.

Authors:  Valerie M Tesmer; Eric M Smith; Oana Danciu; Shilpa Padmanaban; Jayakrishnan Nandakumar
Journal:  Proc Natl Acad Sci U S A       Date:  2019-12-10       Impact factor: 11.205

Review 2.  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

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

Review 4.  Molecular mechanisms of telomere biology disorders.

Authors:  Sherilyn Grill; Jayakrishnan Nandakumar
Journal:  J Biol Chem       Date:  2020-11-22       Impact factor: 5.486

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.  TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis.

Authors:  Sherilyn Grill; Shilpa Padmanaban; Ann Friedman; Eric Perkey; Frederick Allen; Valerie M Tesmer; Jennifer Chase; Rami Khoriaty; Catherine E Keegan; Ivan Maillard; Jayakrishnan Nandakumar
Journal:  JCI Insight       Date:  2021-05-10
  6 in total

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