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NIPAL4 likely encodes a membrane receptor. Zusätzlich bieten wir Ihnen NIPA-Like Domain Containing 4 Antikörper (12) und viele weitere Produktgruppen zu diesem Protein an.
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Case Report: novel NIPAL4 mutation in Japanese female with ichthyosiform erythroderma.
We have identified a novel NIPAL4 mutation in two patients from Romania with autosomal recessive congenital ichthyosis (zeige LBR Proteine).
FATP4 (zeige SLC27A4 Proteine), ichthyin and TGM1 (zeige TGM1 Proteine) interact in lipid processing essential for maintaining the epidermal barrier function
Autosomal recessive congenital ichthyosis (zeige LBR Proteine) patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX (zeige ALOX12B Proteine) and eLOX-3 (zeige ALOXE3 Proteine) staining and a colocalization signal of these lipoxygenases that was three times the normal intensity.
combined findings indicate that ichthyin is associated with keratins and desmosomes in epidermis and is involved in lipid metabolism, possibly through processing of lamellar bodies
diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation
A recurrent missense mutation, p.A176D, was identified in individuals with autosomal recessive ichthyosis (zeige LBR Proteine).
Six homozygous mutations including one nonsense and five missense mutations were identified in a new gene, ichthyin, on chromosome 5q33 in patients with autosomal recessive congenital ichthyosis (zeige LBR Proteine) (ichthyin).
mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis (zeige LBR Proteine) by mildly affecting the expression of retinoid- regulated genes in epidermis.
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis.
NIPA-like protein 4
, magnesium transporter NIPA4
, non-imprinted in Prader-Willi/Angelman syndrome region protein 4
, non-imprinted in Prader-Willi/Angelman syndrome region protein 4 homolog