نتایج جستجو برای: netherton syndrome

تعداد نتایج: 621922  

2015
Ilias Chatziioannidis Evgenia Babatseva Aikaterini Patsatsi Asimina Galli-Tsinopoulou Constantina Sarri Maria Lithoxopoulou George Mitsiakos Paraskevi Karagianni Christos Tsakalidis Zissis Mamuris Nikolaos Nikolaidis

12nd Neonatal Intensive Care Unit, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Agias Triados 3B Street, Pefka, 57010 Thessaloniki, Greece 22nd Dermatology Department, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Thessaloniki, Greece 34th Department of Pediatrics, G.P.N. Papageorgiou Hospital, Aristotle University Faculty of Medicine, Thessa...

2017
Petr Kasparek Zuzana Ileninova Olga Zbodakova Ivan Kanchev Oldrich Benada Karel Chalupsky Maria Brattsand Inken M Beck Radislav Sedlacek

Netherton syndrome (NS) is a severe skin disease caused by the loss of protease inhibitor LEKTI, which leads to the dysregulation of epidermal proteases and severe skin-barrier defects. KLK5 was proposed as a major protease in NS pathology, however its inactivation is not sufficient to rescue the lethal phenotype of LEKTI-deficient mice. In this study, we further elucidated the in vivo roles of...

2014
Laetitia Furio Simon de Veer Madeleine Jaillet Anais Briot Aurelie Robin Celine Deraison Alain Hovnanian

Netherton syndrome (NS) is a severe genetic skin disease in which absence of a key protease inhibitor causes congenital exfoliative erythroderma, eczematous-like lesions, and atopic manifestations. Several proteases are overactive in NS, including kallikrein-related peptidase (KLK) 5, KLK7, and elastase-2 (ELA2), which are suggested to be part of a proteolytic cascade initiated by KLK5. To addr...

Journal: :Human molecular genetics 2003
Emmanuelle Bitoun Alessia Micheloni Laurence Lamant Chrystelle Bonnart Alessandro Tartaglia-Polcini Christian Cobbold Talal Al Saati Feliciana Mariotti Juliette Mazereeuw-Hautier Franck Boralevi Daniel Hohl John Harper Christine Bodemer Marina D'Alessio Alain Hovnanian

SPINK5, encoding the putative multi-domain serine protease inhibitor LEKTI, was recently identified as the defective gene in the severe autosomal recessive ichthyosiform skin condition, Netherton syndrome (NS). Using monoclonal and polyclonal antibodies, we show that LEKTI is a marker of epithelial differentiation, strongly expressed in the granular and uppermost spinous layers of the epidermis...

Journal: :Acta dermato-venereologica 2010
Beyhan Tüysüz David Ojalvo Cem Mat Giovanna Zambruno Claudia Covaciu Daniele Castiglia Marina D'Alessio

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