Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
|
17089404 |
2007 |
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 |
GeneticVariation
|
disease |
BEFREE |
For SMARCAL1 mutations a clear genotype-phenotype correlation has been reported: severe SIOD with in utero or early-childhood onset leading to end-stage renal disease within a few years is caused by nonsense, frame shift or splice mutations.
|
16237566 |
2005 |
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results show for the first time that SMARCAL1 binds chromatin in vivo and that SIOD arises from impairment of diverse SMARCAL1 functions.
|
18805831 |
2009 |
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report a patient with SIOD and SMARCAL1 mutations, who presented with fever of unknown origin secondary to B-cell lymphoma.
|
15523612 |
2004 |
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 |
Biomarker
|
disease |
BEFREE |
Schimke immuno-osseous dysplasia (SIOD) is caused by SMARCAL1 deficiency and characterized by defective T-cell immunity.
|
19796992 |
2009 |
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 |
CausalMutation
|
disease |
CLINVAR |
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
|
19127206 |
2009 |
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 |
Mutations in SMARCAL1 are associated with the disease Schimke immuno-osseous dysplasia, a multisystem autosomal recessive disorder characterized by T cell immunodeficiency, growth inhibition, and renal dysfunction.
|
19841479 |
2009 |
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of mutant HARP proteins suggests that SIOD is caused by a deficiency in annealing helicase activity.
|
18974355 |
2008 |
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report the identification of a new DNA damage response protein, SMARCAL1 (SWI/SNF-related, matrix associated, actin-dependent regulator of chromatin, subfamily a-like 1), which is a member of the SNF2 family and is mutated in Schimke immunoosseous dysplasia (SIOD).
|
19793862 |
2009 |
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.
|
15880370 |
2005 |
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
CTD_human |
For SMARCAL1 mutations a clear genotype-phenotype correlation has been reported: severe SIOD with in utero or early-childhood onset leading to end-stage renal disease within a few years is caused by nonsense, frame shift or splice mutations.
|
16237566 |
2005 |
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
|
11799392 |
2002 |
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations of SMARCAL1, which encodes a putative chromatin remodelling protein, have been associated with SIOD.
|
15880370 |
2005 |
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 |
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Schimke immunoosseous dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD.
|
22998683 |
2012 |
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 |
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
|
11799392 |
2002 |
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
|
11799392 |
2002 |
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.
|
9674900 |
1998 |
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 |