ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
|
26762237 |
2016 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.
|
26456858 |
2016 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
|
25458912 |
2015 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.
|
24397709 |
2015 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
|
22622417 |
2012 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.
|
20016120 |
2010 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
|
17557927 |
2007 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
|
17557927 |
2007 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
|
15317751 |
2004 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
|
15317751 |
2004 |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
To clarify the changes of ceramide components in the lesional stratum corneum (SC) and the gene expression profile in the lesional skin of an ARCI patient with a novel frameshift mutation in NIPAL4.
|
31836270 |
2020 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
|
31347739 |
2019 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.
|
31532840 |
2019 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
NIPAL4 is one of the causative genes for autosomal recessive congenital ichthyosis.
|
29174370 |
2018 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.
|
28122049 |
2017 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.
|
26456858 |
2016 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
GermlineCausalMutation
|
disease |
ORPHANET |
Inherited ichthyoses/generalized Mendelian disorders of cornification.
|
22739337 |
2013 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Two of the NIPAL4 mutation bearing pedigrees were classified as CIE and one as LI.
|
22098531 |
2012 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
GermlineCausalMutation
|
disease |
ORPHANET |
We also determined by ISH that NIPAL4 mRNA is highly expressed in the granular cell layer of the epidermis, consistent with the ARCI phenotype.
|
20016120 |
2010 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
AlteredExpression
|
disease |
BEFREE |
We also determined by ISH that NIPAL4 mRNA is highly expressed in the granular cell layer of the epidermis, consistent with the ARCI phenotype.
|
20016120 |
2010 |
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
0.680 |
Biomarker
|
disease |
HPO |
|
|
|