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 |
Biomarker
|
disease |
BEFREE |
While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12.
|
30916489 |
2019 |
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids.
|
30809833 |
2019 |
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we generated an ethylnitrosourea mutagenic HI pig model (named Z9), which carries a novel deep intronic mutation IVS49-727 A>G in the ABCA12 gene, resulting in abnormal mRNA splicing and truncated protein production.
|
30925591 |
2019 |
Harlequin Fetus
|
0.900 |
Biomarker
|
disease |
BEFREE |
Autosomal recessive congenital ichthyosis (ARCI4B [OMIM #242500]), also known as harlequin ichthyosis, presents at birth with extreme hyperkeratosis and thick-fissured plaques, leading to tightness of the skin around the eyes, mouth, ears, chest, abdomen, and extremities.
|
31586585 |
2019 |
Harlequin Fetus
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Improved understanding of the genetic basis of HI indicates that genetic screening for candidate gene mutations related to HI, particularly mutations in the adenosine triphosphate binding-cassette transporter ABCA12, may prove beneficial in prenatal diagnosis.
|
30651820 |
2019 |
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 |
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 |
Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.
|
28295493 |
2017 |
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 |
MGD |
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
|
27551807 |
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 |
Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.
|
25479012 |
2015 |
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 |
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 |
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 |
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 |
A Mutations in the gene encoding the ABCA12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE).
|
22257947 |
2012 |
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 |
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 |
BEFREE |
Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.
|
20489143 |
2010 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.
|
19664001 |
2009 |
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 |