Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
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WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndromeA single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosisPathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismTransglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.[The ichthyoses. Pathophysiological models of epidermal differentiation].Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis.A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.Inherited ichthyoses/generalized Mendelian disorders of cornification.Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.Molecular identification of ancient and modern mammalian magnesium transporters.Canine ichthyosis and related disorders of cornification.Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis.Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.Disorders of Keratinization
P2860
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P2860
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 08 June 2007
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Congenital ichthyosis: mutatio ...... e granular layer of epidermis.
@en
Congenital ichthyosis: mutatio ...... e granular layer of epidermis.
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type
label
Congenital ichthyosis: mutatio ...... e granular layer of epidermis.
@en
Congenital ichthyosis: mutatio ...... e granular layer of epidermis.
@nl
prefLabel
Congenital ichthyosis: mutatio ...... e granular layer of epidermis.
@en
Congenital ichthyosis: mutatio ...... e granular layer of epidermis.
@nl
P2093
P2860
P356
P1476
Congenital ichthyosis: mutatio ...... he granular layer of epidermis
@en
P2093
A Vahlquist
I Anton-Lamprecht
J Dahlqvist
M Hellström Pigg
T Gedde-Dahl
P2860
P304
P356
10.1136/JMG.2007.050542
P407
P50
P577
2007-06-08T00:00:00Z