Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with LP in the present study exhibited point mutations in the ECM1 gene, including one homozygous mutation (C220G) as previously reported, and one novel homozygous mutation c.508insCTG and two heterozygous mutations (C220G/P.R481X and c507delT/c.l473delT).
|
29693130 |
2018 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.
|
28434238 |
2018 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene.
|
28720532 |
2017 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study was conducted to investigate the mutation spectrum of ECM1 gene in nine Iranian families having at least one LP patient diagnosed clinically.
|
27241643 |
2016 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene.
|
26778481 |
2016 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The homozygous point mutation c.389C>T in ECM1 may be a novel mutation causing LP.
|
23534907 |
2015 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
|
25529926 |
2015 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
|
25529926 |
2015 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing of theECM1 gene showed a homozygous nonsense mutation c.1441C > T (p.Arg481X) in exon 10, confirming the diagnosis of lipoid proteinosis.
|
24079542 |
2015 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
Biomarker
|
disease |
BEFREE |
The absence of functional domains and truncated sequence most likely contribute to the lack of ECM1 function and thereby influence several aspects of dermal homeostasis that leads to LP pathogenesis.
|
24413997 |
2014 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.
|
24708644 |
2014 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A homozygous missense mutation p.C220G of ECM1 was identified by Sanger sequencing, which is a major allele in Chinese patients with LP.
|
24708644 |
2014 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, this is a novel mutation in the ECM1 gene, which is the underlying cause of LP in this patient.
|
22182433 |
2012 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the second case reported of LP with involvement of exon 2 of ECM1.
|
23157792 |
2012 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ophthalmological examinations, chart review, ultrasound biomicroscopy, corneal confocal microscopic examinations with Nidek confoScan 4 and direct sequencing of the extracellular matrix protein 1 gene in individuals from three consanguineous Saudi families with LP.
|
22581399 |
2012 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a novel missense mutation in exon 7 of the ECM1 gene found in an Iranian LP patient that causes a C269Y amino acid exchange.
|
23212332 |
2012 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
Biomarker
|
disease |
BEFREE |
The finding of a novel mutation in Pakistani family extends the body of evidence that supports the importance of ECM1 gene for the development of lipoid proteinosis.
|
21791056 |
2011 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families.
|
21349189 |
2011 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Lipoid proteinosis. A report of 2 siblings and a brief review of the literature.
|
18690317 |
2008 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of mutation 507delT in a Japanese patient with LiP further supports the thesis that this mutation represents a recurrent mutation in ECM1 in patients with LiP.
|
17199583 |
2007 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
In this article, we provide an update on the molecular pathology of lipoid proteinosis, including the addition of 15 new mutations in ECM1 to the mutation database, and review the biological functions of the ECM1 protein in health and disease.
|
17927570 |
2007 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis.
|
17199583 |
2007 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
|
17927570 |
2007 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
To determine the role of ECM1 in epidermal differentiation by examining gene and protein expression of epidermal differentiation markers in individuals with LiP and histological assessment of transgenic mouse skin that overexpresses Ecm1a in basal or suprabasal epidermis.
|
17711528 |
2007 |
Lipoid Proteinosis of Urbach and Wiethe
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
In this article, we provide an update on the molecular pathology of lipoid proteinosis, including the addition of 15 new mutations in ECM1 to the mutation database, and review the biological functions of the ECM1 protein in health and disease.
|
17927570 |
2007 |