Database : MEDLINE
Search on : Netherton and Syndrome [Words]
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[PMID]: 29494334
[Au] Autor:Ulbricht D; Tindall CA; Oertwig K; Hanke S; Sträter N; Heiker JT
[Ad] Address:1Institute of Biochemistry, Faculty of Life Sciences, Leipzig University, Brüderstrasse 34, D-04103 Leipzig, Germany.
[Ti] Title:Kallikrein-related peptidase 14 is the second KLK protease targeted by the serpin vaspin.
[So] Source:Biol Chem;, 2018 Feb 01.
[Is] ISSN:1437-4315
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Kallikrein-related peptidases KLK5, KLK7 and KLK14 are important proteases in skin desquamation and aberrant KLK activity is associated with inflammatory skin diseases such as Netherton syndrome but also with various serious forms of cancer. Previously, we have identified KLK7 as the first protease target of vaspin (Serpin A12). Here, we report KLK14 as a second KLK protease to be inhibited by vaspin. In conclusion, vaspin represents a multispecific serpin targeting the kallikrein proteases KLK7 and KLK14, with distinct exosites regulating recognition of these target proteases and opposing effects of heparin binding on the inhibition reaction.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher

  2 / 375 MEDLINE  
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[PMID]: 29458120
[Au] Autor:Gouin O; L'Herondelle K; Buscaglia P; Le Gall-Ianotto C; Philippe R; Legoux N; Mignen O; Buhé V; Leschiera R; Sakka M; Kerfant N; Carré JL; Le Garrec R; Lefeuvre L; Lebonvallet N; Misery L
[Ad] Address:University of Western Brittany, Laboratory Interaction Neurons-Keratinocytes (LINK), EA4685, Brest, France; Uriage Dermatological Laboratories, Courbevoie, France.
[Ti] Title:Major role for TRPV1 and InsP3R in PAR-2-elicited inflammatory mediator production in differentiated human keratinocytes.
[So] Source:J Invest Dermatol;, 2018 Feb 16.
[Is] ISSN:1523-1747
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Proteinase-activated receptor-2 (PAR-2) activation in basal keratinocytes stimulates inflammation via the Ca -dependent production of mediators such as interleukin (IL)-1ß, tumor necrosis factor (TNF)-α and thymic stromal lymphopoietin (TSLP). In this study, we investigated PAR-2 calcium signaling and the consequent production of inflammatory mediators in differentiated human primary keratinocytes (DhPKs). Stimulation with the PAR-2 activating peptide SLIGKV promoted Ca store depletion in both undifferentiated human primary keratinocytes (UhPKs) and DhPKs. SLIGKV-evoked Ca store depletion did not trigger the store-operated Ca entry (SOCE) through ORAI1 in DhPK when compared with UhPK. The inhibition of phospholipase C (PLC) and the concomitant inhibition of transient receptor potential vanilloid 1 (TRPV1) and inositol triphosphate receptor (InsP3R) in DhPKs abrogated the SLIGKV-evoked Ca store depletion, NF-κB activity and the production of inflammatory mediators, such as IL-1ß, TNF-α and TSLP. Taken together, these results indicate a key role for both InsP3R and TRPV1 in Ca internal stores in the PAR-2-evoked Ca release and consequent skin inflammation in DhPKs. These findings may provide clues to understanding the pathological role of DhPKs in skin disorders in which PAR-2 is known to be involved, such as atopic dermatitis (AD), Netherton syndrome (NS) and psoriasis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180219
[Lr] Last revision date:180219
[St] Status:Publisher

  3 / 375 MEDLINE  
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[PMID]: 29218716
[Au] Autor:Tatian AH; Wong LF; Sebaratnam DF
[Ad] Address:The Children's Hospital at Westmead, Hawkesbury Road, Westmead, NSW, 2145, Australia.
[Ti] Title:Pregnancy in a patient with Netherton syndrome.
[So] Source:Clin Exp Dermatol;43(2):198, 2018 Mar.
[Is] ISSN:1365-2230
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1712
[Cu] Class update date: 180202
[Lr] Last revision date:180202
[St] Status:In-Data-Review
[do] DOI:10.1111/ced.13300

  4 / 375 MEDLINE  
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[PMID]: 29349851
[Au] Autor:Ishida-Yamamoto A; Igawa S; Kishibe M; Honma M
[Ad] Address:Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
[Ti] Title:Clinical and molecular implications of structural changes to desmosomes and corneodesmosomes.
[So] Source:J Dermatol;, 2018 Jan 19.
[Is] ISSN:1346-8138
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Desmosomes provide the main intercellular adhesive properties between epidermal keratinocytes. Their distribution becomes uneven in severe dermatitis, multiple allergies and metabolic wasting syndrome due to desmoglein 1 deficiency and the loss of intercellular adhesion or acantholysis. When keratinocytes differentiate from granular cells into cornified cells, desmosomes are transformed into corneodesmosomes and can provide stronger intercellular adhesion. Degradation of corneodesmosomes is a tightly regulated process involving a number of proteases and their inhibitors. Peripheral corneodesmosomes are protected from proteolytic degradation by the tight junction-related structures around them, and this construction provides the basis for the normal basket weave-like structure of the stratum corneum. In Netherton syndrome, which is caused by an absence of the protease inhibitor lymphoepithelial Kazal-type-related inhibitor, premature degradation of corneodesmosomes occurs due to the overactivation of proteases involved in corneodesmosome degradation. Inflammatory peeling skin disease is caused by the absence of corneodesmosin, a unique component of corneodesmosomes. In this disease, corneodesmosomes are structurally abnormal, and their adhesiveness is compromised, which leads to intercellular splitting between the stratum corneum and stratum granulosum. The better we understand desmosome and corneodesmosome ultrastructure in normal and diseased skin, the clearer the physiological and pathological mechanisms of epidermal integrity become.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180119
[Lr] Last revision date:180119
[St] Status:Publisher
[do] DOI:10.1111/1346-8138.14202

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[PMID]: 29263534
[Au] Autor:Ghosh A; Ahar R; Chatterjee G; Sharma N; Jadhav SA
[Ad] Address:Department of Dermatology, Venereology and Leprosy, Bankura Sammilani Medical College, Bankura, West Bengal, India.
[Ti] Title:Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India.
[So] Source:Indian J Dermatol;62(6):606-611, 2017 Nov-Dec.
[Is] ISSN:1998-3611
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India. Aims and Objectives: The aim is to evaluate the epidemiology and clinical characteristics of various types of congenital ichthyoses. Materials and Methods: The study was conducted for 1 year from April 2013 to March 2014. Patients were evaluated for epidemiological profile and clinical features. Results: During the study of 1 year, 106 patients of congenital ichthyoses were identified. The most common of the various ichthyoses was ichthyosis vulgaris, followed by lamellar ichthyosis, X-linked recessive ichthyosis. One case of Netherton syndrome and one of ichthyosis hystrix were also identified. Conclusion: Various types of congenital ichthyoses present with different clinical features which range from mild to severe. These present with significant psychological stress to both patients and their families. Furthermore, all these diseases have significant implications of transmission to their offspring.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171224
[Lr] Last revision date:171224
[St] Status:In-Data-Review
[do] DOI:10.4103/ijd.IJD_411_17

  6 / 375 MEDLINE  
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[PMID]: 29159247
[Au] Autor:Roda Â; Mendonça-Sanches M; Travassos AR; Soares-de-Almeida L; Metze D
[Ad] Address:Centro Hospitalar Lisboa Norte EPE, Hospital de Santa Maria, Serviço de Dermatologia, Lisboa, Portugal.
[Ti] Title:Infliximab therapy for Netherton syndrome: A case report.
[So] Source:JAAD Case Rep;3(6):550-552, 2017 Nov.
[Is] ISSN:2352-5126
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171123
[Lr] Last revision date:171123
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1016/j.jdcr.2017.07.019

  7 / 375 MEDLINE  
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[PMID]: 29144034
[Au] Autor:Ashton R; Moledina J; Sivakumar B; Mellerio JE; Martinez AE
[Ad] Address:Division of Plastic Surgery, University of Ottawa, Ottawa, ON, Canada.
[Ti] Title:Considerations in surgical management of a Buschke-Lowenstein tumor in Netherton syndrome: A case report.
[So] Source:Pediatr Dermatol;34(6):e328-e330, 2017 Nov.
[Is] ISSN:1525-1470
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Netherton syndrome is an autosomal recessive ichthyosis caused by mutations in SPINK5, with the classic triad of linearis circumflexa, trichorrhexis invaginata, and atopy. There are few reports of surgical management in individuals with Netherton syndrome and clinicians may be reluctant to operate for fear of wound-healing complications. This report describes a pediatric case of a Buschke-Lowenstein tumor of the natal cleft in a patient with Netherton syndrome that had failed to respond to medical management. We reviewed the literature for previous cases of surgery in individuals with Netherton syndrome using MEDLINE and PubMed searches. Our patient underwent surgery to remove the lesion without complication. Using conventional dressings and topical negative-pressure therapy, the wound was managed and healed within a reasonable time frame despite the underlying skin condition. This case indicates that surgery and topical negative-pressure therapy is a safe and reasonable treatment for individuals with Netherton syndrome.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1711
[Cu] Class update date: 171116
[Lr] Last revision date:171116
[St] Status:In-Process
[do] DOI:10.1111/pde.13292

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[PMID]: 29106927
[Au] Autor:De Niear MA; Gigante J
[Ad] Address:Medical Scientist Training Program.
[Ti] Title:Desquamating Rash in a Patient with Undiagnosed Netherton Syndrome.
[So] Source:J Pediatr;, 2017 Oct 26.
[Is] ISSN:1097-6833
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171106
[Lr] Last revision date:171106
[St] Status:Publisher

  9 / 375 MEDLINE  
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[PMID]: 28943498
[Au] Autor:Shi ZR; Xu M; Tan GZ; Wang L; Guo Q; Tang ZQ
[Ad] Address:Department of Dermatology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China.
[Ti] Title:A case of Netherton syndrome with mutation in SPINK5 and FLG.
[So] Source:Eur J Dermatol;27(5):536-537, 2017 Oct 01.
[Is] ISSN:1952-4013
[Cp] Country of publication:France
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171031
[Lr] Last revision date:171031
[St] Status:In-Data-Review
[do] DOI:10.1684/ejd.2017.3078

  10 / 375 MEDLINE  
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[PMID]: 28913623
[Au] Autor:Rasheed M; Shahzad S; Zaeem A; Afzal I; Gul A; Khalid S
[Ad] Address:Department of Bioinformatics and Biotechnology, Maryum Block, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.
[Ti] Title:Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
[So] Source:Arch Dermatol Res;309(10):773-785, 2017 Dec.
[Is] ISSN:1432-069X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features. The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2. Despite underlying genetic origin, most of the health professionals solely rely on phenotypic expression of these disorders that leads to improper management of patients, hence making these patients living an orphanage life. After dermal features, association of other systems such as nervous system, skeletal system, hair abnormalities or liver problems may sometimes give clues for diagnosis but still leaving place for molecular screening for efficient diagnosis. In this paper, we have presented a review of ichthyosis syndrome with prominent hair abnormalities, with special emphasis on their updated genetic consequences and disease management. Additionally, we aim to update health professionals about the practice of molecular screening in ichthyosis syndromes for appropriate diagnosis and treatment.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1709
[Cu] Class update date: 171107
[Lr] Last revision date:171107
[St] Status:In-Process
[do] DOI:10.1007/s00403-017-1780-x


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