Literature DB >> 35175322

Telomere biology disorders gain a family member.

Sharon A Savage1.   

Abstract

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Year:  2022        PMID: 35175322      PMCID: PMC8854677          DOI: 10.1182/blood.2021014533

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


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  10 in total

Review 1.  The molecular genetics of the telomere biology disorders.

Authors:  Alison A Bertuch
Journal:  RNA Biol       Date:  2015-09-23       Impact factor: 4.652

2.  Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice.

Authors:  Yuxun Wang; Christopher D Putnam; Michael F Kane; Weijia Zhang; Lisa Edelmann; Robert Russell; Danaise V Carrión; Lynda Chin; Raju Kucherlapati; Richard D Kolodner; Winfried Edelmann
Journal:  Nat Genet       Date:  2005-06-19       Impact factor: 38.330

3.  The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Authors:  Rachel B Ramoni; John J Mulvihill; David R Adams; Patrick Allard; Euan A Ashley; Jonathan A Bernstein; William A Gahl; Rizwan Hamid; Joseph Loscalzo; Alexa T McCray; Vandana Shashi; Cynthia J Tifft; Anastasia L Wise
Journal:  Am J Hum Genet       Date:  2017-02-02       Impact factor: 11.025

4.  Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.

Authors:  Blanche P Alter; Philip S Rosenberg; Neelam Giri; Gabriela M Baerlocher; Peter M Lansdorp; Sharon A Savage
Journal:  Haematologica       Date:  2011-11-04       Impact factor: 9.941

Review 5.  Telomeres and telomerase: three decades of progress.

Authors:  Jerry W Shay; Woodring E Wright
Journal:  Nat Rev Genet       Date:  2019-05       Impact factor: 53.242

Review 6.  An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Authors:  Marena R Niewisch; Sharon A Savage
Journal:  Expert Rev Hematol       Date:  2019-09-10       Impact factor: 2.819

7.  Direct comparison of flow-FISH and qPCR as diagnostic tests for telomere length measurement in humans.

Authors:  Fernanda Gutierrez-Rodrigues; Bárbara A Santana-Lemos; Priscila S Scheucher; Raquel M Alves-Paiva; Rodrigo T Calado
Journal:  PLoS One       Date:  2014-11-19       Impact factor: 3.240

8.  Diagnostic utility of telomere length testing in a hospital-based setting.

Authors:  Jonathan K Alder; Vidya Sagar Hanumanthu; Margaret A Strong; Amy E DeZern; Susan E Stanley; Clifford M Takemoto; Ludmila Danilova; Carolyn D Applegate; Stephen G Bolton; David W Mohr; Robert A Brodsky; James F Casella; Carol W Greider; J Brooks Jackson; Mary Armanios
Journal:  Proc Natl Acad Sci U S A       Date:  2018-02-20       Impact factor: 11.205

9.  Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.

Authors:  Richa Sharma; Sushree S Sahoo; Masayoshi Honda; Sophie L Granger; Charnise Goodings; Louis Sanchez; Axel Künstner; Hauke Busch; Fabian Beier; Shondra M Pruett-Miller; Marcus B Valentine; Alfonso G Fernandez; Ti-Cheng Chang; Vincent Géli; Dmitri Churikov; Sandrine Hirschi; Victor B Pastor; Melanie Boerries; Melchior Lauten; Charikleia Kelaidi; Megan A Cooper; Sarah Nicholas; Jill A Rosenfeld; Sophia Polychronopoulou; Caroline Kannengiesser; Carole Saintomé; Charlotte M Niemeyer; Patrick Revy; Marc S Wold; Maria Spies; Miriam Erlacher; Stéphane Coulon; Marcin W Wlodarski
Journal:  Blood       Date:  2022-02-17       Impact factor: 22.113

10.  Replication protein A: a multifunctional protein with roles in DNA replication, repair and beyond.

Authors:  Rositsa Dueva; George Iliakis
Journal:  NAR Cancer       Date:  2020-09-25
  10 in total
  1 in total

Review 1.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738

  1 in total

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