The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis
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Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessingEpidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- miceNucleic acid delivery into skin for the treatment of skin disease: Proofs-of-concept, potential impact, and remaining challenges.Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivityCOMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.Kallikrein-related peptidase 14 may be a major contributor to trypsin-like proteolytic activity in human stratum corneum.Immunoglobulin E in primary immunodeficiency diseases.Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyosesRole of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings.Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disordersDesmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.New insights into the functional mechanisms and clinical applications of the kallikrein-related peptidase family.Therapeutic Implications of a Barrier-based Pathogenesis of Atopic Dermatitis.Therapeutic implications of a barrier-based pathogenesis of atopic dermatitisNetherton Syndrome: A Genotype-Phenotype Review.Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton SyndromeNetherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism.Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTIEpidermal Differentiation in Barrier Maintenance and Wound Healing.Squamous cell carcinoma in a patient with Netherton's syndrome.Netherton syndrome.Stratum corneum removal facilitates experimental sensitization to mite allergens in atopic dogs.An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation.Case of Netherton syndrome with an elevated serum thymus and activation-regulated chemokine level.Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.International nosology and classification of constitutional disorders of bone (2001).Inflammatory peeling skin syndrome caused a novel mutation in CDSN.Scanning electron microscopic examination of the hair shaft abnormalities in Netherton's syndrome.Disorders of Keratinization
P2860
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P2860
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@ast
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@en
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@nl
type
label
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@ast
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@en
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@nl
prefLabel
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@ast
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@en
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@nl
P2093
P1476
The spectrum of pathogenic mut ...... rst case of prenatal diagnosis
@en
P2093
E C Siegfried
E Pfendner
E Sprecher
J J DiGiovanna
J S Prendiville
P304
P356
10.1046/J.1523-1747.2001.01389.X
P407
P577
2001-08-01T00:00:00Z
P5875
P6179
1039230819