Literature DB >> 28371197

A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

Maria A Smolle1, Ellen Heitzer2, Jochen B Geigl2, Ali Al Kaissi3, Bernadette Liegl-Atzwanger4, Markus G Seidel5, Lukas A Holzer1, Andreas Leithner1.   

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Year:  2017        PMID： 28371197     DOI： 10.1002/pbc.26522

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


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  8 in total

1.  Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.

Authors:  Julien Masliah-Planchon; Dominique Lévy; Delphine Héron; Fabienne Giuliano; Catherine Badens; Paul Fréneaux; Louise Galmiche; Jean-Marc Guinebretierre; Cécile Cellier; Joshua J Waterfall; Khadija Aït-Raïs; Gaëlle Pierron; Christophe Glorion; Isabelle Desguerre; Christine Soler; Anne Deville; Olivier Delattre; Jean Michon; Franck Bourdeaut
Journal:  Eur J Hum Genet       Date:  2018-04-30       Impact factor: 4.246

Review 2.  Alternative lengthening of telomeres phenotype and loss of ATRX expression in sarcomas.

Authors:  Xiaolei Ren; Chao Tu; Zhenchu Tang; Ruofei Ma; Zhihong Li
Journal:  Oncol Lett       Date:  2018-03-22       Impact factor: 2.967

3.  Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.

Authors:  Lisa Mirabello; Bin Zhu; Roelof Koster; Eric Karlins; Michael Dean; Meredith Yeager; Matthew Gianferante; Logan G Spector; Lindsay M Morton; Danielle Karyadi; Leslie L Robison; Gregory T Armstrong; Smita Bhatia; Lei Song; Nathan Pankratz; Maisa Pinheiro; Julie M Gastier-Foster; Richard Gorlick; Silvia Regina Caminada de Toledo; Antonio S Petrilli; Ana Patino-Garcia; Fernando Lecanda; Miriam Gutierrez-Jimeno; Massimo Serra; Claudia Hattinger; Piero Picci; Katia Scotlandi; Adrienne M Flanagan; Roberto Tirabosco; Maria Fernanda Amary; Nilgün Kurucu; Inci Ergurhan Ilhan; Mandy L Ballinger; David M Thomas; Donald A Barkauskas; Gerardo Mejia-Baltodano; Patricia Valverde; Belynda D Hicks; Bin Zhu; Mingyi Wang; Amy A Hutchinson; Margaret Tucker; Joshua Sampson; Maria T Landi; Neal D Freedman; Susan Gapstur; Brian Carter; Robert N Hoover; Stephen J Chanock; Sharon A Savage
Journal:  JAMA Oncol       Date:  2020-05-01       Impact factor: 31.777

4.  Functional cross talk between the Fanconi anemia and ATRX/DAXX histone chaperone pathways promotes replication fork recovery.

Authors:  Maya Raghunandan; Jung Eun Yeo; Ryan Walter; Kai Saito; Adam J Harvey; Stacie Ittershagen; Eun-A Lee; Jihyeon Yang; Maureen E Hoatlin; Anja K Bielinsky; Eric A Hendrickson; Orlando Schärer; Alexandra Sobeck
Journal:  Hum Mol Genet       Date:  2020-05-08       Impact factor: 6.150

5.  Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics.

Authors:  Michael R van Gerven; Eva Bozsaky; Yvette A H Matser; Julian Vosseberg; Sabine Taschner-Mandl; Jan Koster; Godelieve A M Tytgat; Jan J Molenaar; Marlinde van den Boogaard
Journal:  Cancer Sci       Date:  2022-04-26       Impact factor: 6.518

6.  G-quadruplex DNA drives genomic instability and represents a targetable molecular abnormality in ATRX-deficient malignant glioma.

Authors:  Yuxiang Wang; Jie Yang; Aaron T Wild; Wei H Wu; Rachna Shah; Carla Danussi; Gregory J Riggins; Kasthuri Kannan; Erik P Sulman; Timothy A Chan; Jason T Huse
Journal:  Nat Commun       Date:  2019-02-26       Impact factor: 14.919

7.  A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Authors:  Jianling Ji; Lishuang Shen; Moiz Bootwalla; Catherine Quindipan; Tatiana Tatarinova; Dennis T Maglinte; Jonathan Buckley; Gordana Raca; Sulagna C Saitta; Jaclyn A Biegel; Xiaowu Gai
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-04-01

8.  Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

Authors:  Yan Cong; Jie Wu; Hao Wang; Ke Wu; Cui Huang; Xuejian Yang
Journal:  Front Pediatr       Date:  2022-04-04       Impact factor: 3.418
  8 in total

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