Schimke immunoosseous dysplasia associated with undifferentiated carcinoma and a novelSMARCAL1mutation in a child
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Title
Schimke immunoosseous dysplasia associated with undifferentiated carcinoma and a novelSMARCAL1mutation in a child
Authors
Keywords
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Journal
PEDIATRIC BLOOD & CANCER
Volume 60, Issue 9, Pages E88-E90
Publisher
Wiley
Online
2013-04-29
DOI
10.1002/pbc.24542
References
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Note: Only part of the references are listed.- SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo
- (2012) Alireza Baradaran-Heravi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity
- (2012) Deborah L. Croteau et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication
- (2012) R. Betous et al. GENES & DEVELOPMENT
- Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression
- (2012) Alireza Baradaran-Heravi et al. HUMAN MOLECULAR GENETICS
- Dental Abnormalities in Schimke Immuno-osseous Dysplasia
- (2012) M. Morimoto et al. JOURNAL OF DENTAL RESEARCH
- Novel mutations target distinct subgroups of medulloblastoma
- (2012) Giles Robinson et al. NATURE
- The Werner and Bloom Syndrome Proteins Help Resolve Replication Blockage by Converting (Regressed) Holliday Junctions to Functional Replication Forks
- (2011) Amrita Machwe et al. BIOCHEMISTRY
- Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
- (2011) Jakub Zieg et al. Pediatric Rheumatology
- SMARCAL1 and replication stress: An explanation for SIOD?
- (2011) Carol E. Bansbach et al. Nucleus
- Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia
- (2009) Atar Lev et al. CLINICAL IMMUNOLOGY
- The annealing helicase HARP protects stalled replication forks
- (2009) J. Yuan et al. GENES & DEVELOPMENT
- The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart
- (2009) A. Ciccia et al. GENES & DEVELOPMENT
- The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks
- (2009) C. E. Bansbach et al. GENES & DEVELOPMENT
- The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA
- (2009) T. Yusufzai et al. GENES & DEVELOPMENT
- HARP Is an ATP-Driven Annealing Helicase
- (2008) T. Yusufzai et al. SCIENCE
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