Literature DB >> 24763404

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.

Laura C Collopy1, Amanda J Walne1, Tom J Vulliamy2, Inderjeet S Dokal3.   

Abstract

Entities:  

Keywords:  SLX4 variants; aplastic anemia; bone marrow failure genes; targeted resequencing

Mesh：

Substances：

Year:  2014        PMID： 24763404      PMCID： PMC4077096          DOI： 10.3324/haematol.2014.105320

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


× No keyword cloud information.
  11 in total

1.  Repair of an interstrand DNA cross-link initiated by ERCC1-XPF repair/recombination nuclease.

Authors:  I Kuraoka; W R Kobertz; R R Ariza; M Biggerstaff; J M Essigmann; R D Wood
Journal:  J Biol Chem       Date:  2000-08-25       Impact factor: 5.157

2.  Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Authors:  Hiroki Yamaguchi; Rodrigo T Calado; Hinh Ly; Sachiko Kajigaya; Gabriela M Baerlocher; Stephen J Chanock; Peter M Lansdorp; Neal S Young
Journal:  N Engl J Med       Date:  2005-04-07       Impact factor: 91.245

3.  Multifunctionality of the FA pathway.

Authors:  Laura E Hays
Journal:  Blood       Date:  2013-01-03       Impact factor: 22.113

4.  Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair.

Authors:  Jennifer M Svendsen; Agata Smogorzewska; Mathew E Sowa; Brenda C O'Connell; Steven P Gygi; Stephen J Elledge; J Wade Harper
Journal:  Cell       Date:  2009-07-10       Impact factor: 41.582

5.  Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.

Authors:  Beatrice Schuster; Kerstin Knies; Chantal Stoepker; Eunike Velleuer; Richard Friedl; Birgit Gottwald-Mühlhauser; Johan P de Winter; Detlev Schindler
Journal:  Hum Mutat       Date:  2012-10-16       Impact factor: 4.878

6.  Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.

Authors:  Yonghwan Kim; Gabriella S Spitz; Uma Veturi; Francis P Lach; Arleen D Auerbach; Agata Smogorzewska
Journal:  Blood       Date:  2012-10-23       Impact factor: 22.113

7.  The Fanconi anaemia group G gene FANCG is identical with XRCC9.

Authors:  J P de Winter; Q Waisfisz; M A Rooimans; C G van Berkel; L Bosnoyan-Collins; N Alon; M Carreau; O Bender; I Demuth; D Schindler; J C Pronk; F Arwert; H Hoehn; M Digweed; M Buchwald; H Joenje
Journal:  Nat Genet       Date:  1998-11       Impact factor: 38.330

8.  Association between aplastic anaemia and mutations in telomerase RNA.

Authors:  Tom Vulliamy; Anna Marrone; Inderjeet Dokal; Philip J Mason
Journal:  Lancet       Date:  2002-06-22       Impact factor: 79.321

9.  Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Authors:  Hanna T Gazda; Mee Rie Sheen; Adrianna Vlachos; Valerie Choesmel; Marie-Françoise O'Donohue; Hal Schneider; Natasha Darras; Catherine Hasman; Colin A Sieff; Peter E Newburger; Sarah E Ball; Edyta Niewiadomska; Michal Matysiak; Jan M Zaucha; Bertil Glader; Charlotte Niemeyer; Joerg J Meerpohl; Eva Atsidaftos; Jeffrey M Lipton; Pierre-Emmanuel Gleizes; Alan H Beggs
Journal:  Am J Hum Genet       Date:  2008-12       Impact factor: 11.025

10.  Telomere length measurement by a novel monochrome multiplex quantitative PCR method.

Authors:  Richard M Cawthon
Journal:  Nucleic Acids Res       Date:  2009-01-07       Impact factor: 16.971
View more
  4 in total

1.  Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Authors:  Laura C Collopy; Amanda J Walne; Shirleny Cardoso; Josu de la Fuente; Mahfuzah Mohamed; Helga Toriello; Hannah Tamary; Adam J Y V Ling; Timothy Lloyd; Rebecca Kassam; Hemanth Tummala; Thomas J Vulliamy; Inderjeet Dokal
Journal:  Blood       Date:  2015-05-29       Impact factor: 22.113

2.  The clinical and functional effects of TERT variants in myelodysplastic syndrome.

Authors:  Christopher R Reilly; Mikko Myllymäki; Robert Redd; Shilpa Padmanaban; Druha Karunakaran; Valerie Tesmer; Frederick D Tsai; Christopher J Gibson; Huma Q Rana; Liang Zhong; Wael Saber; Stephen R Spellman; Zhen-Huan Hu; Esther H Orr; Maxine M Chen; Immaculata De Vivo; Daniel J DeAngelo; Corey Cutler; Joseph H Antin; Donna Neuberg; Judy E Garber; Jayakrishnan Nandakumar; Suneet Agarwal; R Coleman Lindsley
Journal:  Blood       Date:  2021-09-09       Impact factor: 25.476

3.  Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Authors:  Elena G Arias-Salgado; Eva Galvez; Lurdes Planas-Cerezales; Laura Pintado-Berninches; Elena Vallespin; Pilar Martinez; Jaime Carrillo; Laura Iarriccio; Anna Ruiz-Llobet; Albert Catalá; Isabel Badell-Serra; Luis I Gonzalez-Granado; Andrea Martín-Nalda; Mónica Martínez-Gallo; Ana Galera-Miñarro; Carmen Rodríguez-Vigil; Mariana Bastos-Oreiro; Guiomar Perez de Nanclares; Virginia Leiro-Fernández; Maria-Luz Uria; Cristina Diaz-Heredia; Claudia Valenzuela; Sara Martín; Belén López-Muñiz; Pablo Lapunzina; Julian Sevilla; María Molina-Molina; Rosario Perona; Leandro Sastre
Journal:  Orphanet J Rare Dis       Date:  2019-04-17       Impact factor: 4.123

4.  A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

Authors:  Noémi B A Roy; Edward A Wilson; Shirley Henderson; Katherine Wray; Christian Babbs; Steven Okoli; Wale Atoyebi; Avery Mixon; Mary R Cahill; Peter Carey; Jonathan Cullis; Julie Curtin; Helene Dreau; David J P Ferguson; Brenda Gibson; Georgina Hall; Joanne Mason; Mary Morgan; Melanie Proven; Amrana Qureshi; Joaquin Sanchez Garcia; Nongnuch Sirachainan; Juliana Teo; Ulf Tedgård; Doug Higgs; David Roberts; Irene Roberts; Anna Schuh
Journal:  Br J Haematol       Date:  2016-07-19       Impact factor: 6.998
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.