|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Harlequin Fetus
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
This report provides evidence for residual ABCA12 expression in HI, and demonstrates the efficiency of early DNA-based PD of HI.
|
17082782 |
2007 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.
|
27381714 |
2016 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
BEFREE |
Direct sequencing of cDNA from exon 9 to exon 13 and of gDNA between intron 9 and intron 11 of ABCA12 was done in the HI patient and her parents.
|
26475431 |
2015 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
ABCA12 mutations are known to underlie the three major types of autosomal recessive congenital ichthyoses: harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma.
|
23954554 |
2014 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
BEFREE |
We confirmed that ABCA12 defects cause congested lipid secretion in cultured HI keratinocytes and succeeded in obtaining the recovery of LG lipid secretion after corrective gene transfer of ABCA12.
|
16007253 |
2005 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
BEFREE |
Abca12(-/-) mice closely reproduce the human HI phenotype, showing marked hyperkeratosis with eclabium and skin fissure.
|
18632686 |
2008 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
BEFREE |
This article reviews current opinions on the patho-mechanisms of ABCA12 action in HI and potential therapeutic interventions based on targeted molecular therapy and gene therapy strategies.
|
22864982 |
2013 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report the case of an infant with novel heterozygous mutations in ABCA12 who exhibited features and a clinical course more consistent with congenital ichthyosiform erythroderma than harlequin ichthyosis.
|
22299640 |
2014 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA12 gene are known to cause ichthyosis fetalis in cattle and Harlequin ichthyosis in humans.
|
31568573 |
2019 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.5778+2T>C, p. G1900Mfs*16), a gene known to be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosis.
|
27769845 |
2017 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, ABCA12 mutations were identified as the cause of HI.
|
16675967 |
2006 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.
|
25479012 |
2015 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
BEFREE |
Until the identification of ABCA12 as the causative gene, prenatal diagnosis (PND) for HI had been performed by electronmicroscopic observation of fetal skin biopsy samples.
|
18262308 |
2008 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.
|
29377090 |
2018 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI.
|
15756637 |
2005 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
BEFREE |
Harlequin ichthyosis is caused by a serious functional deficiency of ABCA12.
|
16847209 |
2006 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI).HI shows the most severe phenotype.
|
20672373 |
2010 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
MGD |
Mutations in the gene encoding a member of the ABCA transporter family, ABCA12, have been linked to harlequin ichthyosis, but the molecular function of the protein is unknown.
|
18957418 |
2008 |
|
Harlequin Fetus
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
As seen in HI epidermis, proteins that are normally expressed in late differentiation were highly dysregulated in the ABCA12-ablated OTCC system.
|
19179616 |
2009 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation and without oral retinoids.
|
24274932 |
2015 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
BEFREE |
Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.
|
20489143 |
2010 |
|
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Patients with harlequin ichthyosis for whom we had performed ABCA12 mutation analysis.
|
21339420 |
2011 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
MGD |
Abca12(-/-) mice closely reproduce the human HI phenotype, showing marked hyperkeratosis with eclabium and skin fissure.
|
18632686 |
2008 |
|
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
CTD_human |
Recently, ABCA12 mutations were identified as the cause of HI.
|
16675967 |
2006 |