|
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In conclusion, our conditional SMARCAL1 knockdown model in iPSCs may represent a powerful model when studying pathogenetic mechanisms of severe Schimke immuno-osseous dysplasia.
|
31515241 |
2019 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, previous reported SIOD cases showed excessive enrichment for mutations in the helicase ATP-binding and C-terminal domains of SMARCAL1.
|
31275356 |
2019 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Schimke immuno-osseous dysplasia is a rare autosomal recessive disease resulting from biallelic SMARCAL1 mutations.
|
30635151 |
2019 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigate the mechanistic nature of the Snf2 family protein HARP, mutations of which are responsible for Schimke immuno-osseous dysplasia.
|
28334870 |
2017 |
|
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
|
28796785 |
2017 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.
|
27282802 |
2016 |
|
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression.
|
27816064 |
2016 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia.
|
27813696 |
2016 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, it illustrates the need to broaden the search for SMARCAL1 mutations in patients with SIOD lacking coding sequence variants.
|
25943327 |
2015 |
|
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].
|
25748404 |
2015 |
|
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Smarcal1 promotes double-strand-break repair by nonhomologous end-joining.
|
26089390 |
2015 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Schimke immuno-osseous dysplasia (SIOD) is a pleiotropic disorder caused by mutations in the SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like-1 (SMARCAL1) gene, with multiple clinical features, notably end-stage renal disease.
|
25319549 |
2015 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by mutations in SMARCAL1.
|
26309238 |
2015 |
|
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
|
26499378 |
2015 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results from these experiments demonstrate that mutations in human SMARCAL1 that result in loss in ATPase activity lead to increased replication stress and therefore possibly manifestation of SIOD.
|
26195148 |
2015 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient.
|
24197801 |
2014 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SIOD is caused by mutations in the gene SMARCAL1.
|
24589093 |
2014 |
|
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SIOD is caused by mutations in the gene SMARCAL1.
|
24589093 |
2014 |
|
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SIOD is caused by mutations in the gene SMARCAL1.
|
24589093 |
2014 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a child with SIOD and a novel S859P missense mutation in SMARCAL1 who developed undifferentiated carcinoma of the sinus.
|
23630135 |
2013 |
|
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification and characterization of SMARCAL1 protein complexes.
|
23671665 |
2013 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.
|
23010210 |
2013 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SMARCAL1 mutations that cause Schimke immunoosseous dysplasia or that inactivate the HARP2 domain abrogate these activities.
|
22279047 |
2012 |
|
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
|
22998683 |
2012 |
|
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Finally, we determined if Smarcal1(del/del) mice had hypersensitivity to irinotecan (CPT-11), etoposide, and hydroxyurea (HU) and whether exposure to these agents induced features of SIOD.
|
22888040 |
2012 |