Condition: Schimke immunoosseous dysplasia
rs119473033 in
SMARCAL1 gene and
Schimke immunoosseous dysplasia
PMID 22998683 2012 Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
PMID 11799392 2002 Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
PMID 21914180 2011 Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
PMID 28796785 2017 Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
PMID 16840568 2007 Schimke immuno-osseous dysplasia: a clinicopathological correlation.
PMID 17089404 2007 Schimke immunoosseous dysplasia: suggestions of genetic diversity.
PMID 26499378 2015 Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
PMID 15880370 2005 Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.
PMID 19127206 2009 SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
PMID 18805831 2009 Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
PMID 24589093 2014 A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).
PMID 25748404 2015 [SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].
PMID 18974355 2008 HARP is an ATP-driven annealing helicase.
PMID 19793862 2009 The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart.
PMID 26089390 2015 Smarcal1 promotes double-strand-break repair by nonhomologous end-joining.
PMID 23671665 2013 Identification and characterization of SMARCAL1 protein complexes.
PMID 19793864 2009 The annealing helicase HARP protects stalled replication forks.