Literature DB >> 26218202

Inherited bone marrow failure syndromes.

Janine Collins, Inderjeet Dokal.   

Abstract

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Year:  2015        PMID： 26218202     DOI： 10.1179/1024533215Z.000000000381

Source DB:  PubMed          Journal:  Hematology        ISSN： 1024-5332            Impact factor:   2.269


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  5 in total

1.  Amelioration of Mucositis in Proton Therapy of Fanconi Anemia Fanca-/- Mice by JP4-039.

Authors:  Thomas J Quinn; Xuanfeng Ding; Xiaoqiang Li; George D Wilson; Katie Buelow; Aranee Sivananthan; Stephanie Thermozier; Andrew Henderson; Michael W Epperly; Darcy Franicola; Peter Wipf; Joel S Greenberger; Craig W Stevens; Peyman Kabolizadeh
Journal:  In Vivo       Date:  2019 Nov-Dec       Impact factor: 2.155

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

Authors:  Hemanth Tummala; Laura C Collopy; Amanda J Walne; Alicia Ellison; Shirleny Cardoso; Tekin Aksu; Nese Yarali; Deniz Aslan; Rüştü Fikret Akata; Juliana Teo; Zhou Songyang; Nikolas Pontikos; Jude Fitzgibbon; Kazunori Tomita; Tom Vulliamy; Inderjeet Dokal
Journal:  Blood       Date:  2018-07-31       Impact factor: 25.476

3.  Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.

Authors:  Hemanth Tummala; Arran D Dokal; Amanda Walne; Alicia Ellison; Shirleny Cardoso; Saranha Amirthasigamanipillai; Michael Kirwan; Isobel Browne; Jasmin K Sidhu; Vinothini Rajeeve; Ana Rio-Machin; Ahad Al Seraihi; Andrew S Duncombe; Matthew Jenner; Owen P Smith; Helen Enright; Alice Norton; Tekin Aksu; Namık Yaşar Özbek; Nikolas Pontikos; Pedro Cutillas; Inderjeet Dokal; Tom Vulliamy
Journal:  Proc Natl Acad Sci U S A       Date:  2018-07-09       Impact factor: 11.205

4.  Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.

Authors:  Jacqueline V Graniel; Kamlesh Bisht; Ann Friedman; James White; Eric Perkey; Ashley Vanderbeck; Alina Moroz; Léolène J Carrington; Joshua D Brandstadter; Frederick Allen; Adrienne Niederriter Shami; Peedikayil Thomas; Aniela Crayton; Mariel Manzor; Anna Mychalowych; Jennifer Chase; Saher S Hammoud; Catherine E Keegan; Ivan Maillard; Jayakrishnan Nandakumar
Journal:  Life Sci Alliance       Date:  2021-10-13

5.  The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.

Authors:  Shahinaz M Gadalla; Payal P Khincha; Hormuzd A Katki; Neelam Giri; Jason Y Y Wong; Stephen Spellman; Jack A Yanovski; Joan C Han; Immaculata De Vivo; Blanche P Alter; Sharon A Savage
Journal:  Mol Genet Genomic Med       Date:  2016-03-20       Impact factor: 2.183
  5 in total

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