Associated Papers
SMARCAL1 is a candidate therapeutic target for ALT-positive tumors.
Taglialatela A et al.
Biorxiv : the Preprint Server for Biology, 2026
Profound synthetic lethality between SMARCAL1 and FANCM.
Feng S et al.
Molecular Cell, 2024
Cancer-associated SMARCAL1 loss-of-function mutations promote alternative lengthening of telomeres and tumorigenesis in telomerase-negative glioblastoma cells.
Liu H et al.
Neuro-oncology, 2023
Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
Ballinger ML et al.
Science (new York, N.y.), 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
SMARCAL1, the annealing helicase and the transcriptional co-regulator.
Bansal R et al.
Iubmb Life, 2020
Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.
Shojaei A et al.
Iranian Journal of Kidney Diseases, 2019
Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia.
Haffner DN et al.
Pediatric Neurology, 2019
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics, 2019
The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.
Diplas BH et al.
Nature Communications, 2018
Restoration of Replication Fork Stability in BRCA1- and BRCA2-Deficient Cells by Inactivation of SNF2-Family Fork Remodelers.
Taglialatela A et al.
Molecular Cell, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS et al.
Plos One, 2017
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Morimoto M et al.
Orphanet Journal of Rare Diseases, 2016
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Sanyal M et al.
Clinical Immunology (orlando, Fla.), 2015
Smarcal1 promotes double-strand-break repair by nonhomologous end-joining.
Keka IS et al.
Nucleic Acids Research, 2015
Phosphorylation of a C-terminal auto-inhibitory domain increases SMARCAL1 activity.
Carroll C et al.
Nucleic Acids Research, 2014
Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.
Carroll C et al.
Pediatric Blood & Cancer, 2013
ATR phosphorylates SMARCAL1 to prevent replication fork collapse.
Couch FB et al.
Genes & Development, 2013
Identification and characterization of SMARCAL1 protein complexes.
Bétous R et al.
Plos One, 2013
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Morimoto M et al.
Orphanet Journal of Rare Diseases, 2012
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Baradaran-Heravi A et al.
Human Molecular Genetics, 2012
SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication.
Bétous R et al.
Genes & Development, 2012
The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks.
Bansbach CE et al.
Genes & Development, 2009
The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart.
Ciccia A et al.
Genes & Development, 2009
The annealing helicase HARP protects stalled replication forks.
Yuan J et al.
Genes & Development, 2009
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
Elizondo LI et al.
Journal of Medical Genetics, 2009
HARP is an ATP-driven annealing helicase.
Yusufzai T et al.
Science (new York, N.y.), 2008
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Clewing JM et al.
Human Mutation, 2007
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Boerkoel CF et al.
Nature Genetics, 2002
BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immuneosseous- dysplasia.
Düzova A et al.
The Turkish Journal of Pediatrics, 0