|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |
UNIPROT |
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
|
11799392 |
2002 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.
|
15880370 |
2005 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1.
|
15884045 |
2005 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
The expression of Smarcal1 in affected tissues and the non-recurrence of disease in grafted organs lead us to hypothesize a cell autonomous function for SMARCAL1 and to propose tissue-specific mechanisms for the pathophysiology of SIOD.
|
16419127 |
2006 |
|
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Schimke immuno-osseous dysplasia: a clinicopathological correlation.
|
16840568 |
2007 |
|
Schimke immunoosseous dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Schimke immuno-osseous dysplasia (SIOD) is a fatal autosomal recessive disorder caused by loss-of-function mutations in swi/snf-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1).
|
16840568 |
2007 |
|
Schimke immunoosseous dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
|
17089404 |
2007 |
|
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
|
17089404 |
2007 |
|
Schimke immunoosseous dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
|
17089404 |
2007 |
|
Schimke immunoosseous dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The renal expression pattern of SMARCAL1 explains a broader spectrum of renal disease in SIOD than previously described.
|
18356746 |
2008 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
|
18805831 |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
UNIPROT |
Analysis of mutant HARP proteins suggests that SIOD is caused by a deficiency in annealing helicase activity.
|
18974355 |
2008 |
|
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 |
An SIOD-associated SMARCAL1 mutant fails to prevent replication-associated DNA damage from accumulating in cells in which endogenous SMARCAL1 is silenced.
|
19793861 |
2009 |