Results 81 to 90 of about 5,662 (212)

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis

Veterinary Dermatology, Volume 36, Issue 3, Page 314-320, June 2025.
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann, Jennifer L. Clegg, Vidhya Jagannathan, Dominique J. Wiener, Angelica Kallenberg, Robert A. Grahn, Clarissa P. Souza, Tosso Leeb   +7 more
wiley   +1 more source

Collodion Baby with TGM1 gene mutation

International Medical Case Reports Journal, 2015
Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D, Gupta B, Shastri S, Pandita A, Pawar S   +4 more
doaj  

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source

Abnormal Lamellar Granules in Harlequin Ichthyosis

Journal of Investigative Dermatology, 1992
Lamellar granules are specialized lipid-rich organelles present in epidermal granular cells. They fuse with the apical cell surface and discharge their contents into the intercellular space forming lamellar sheets. It was previously shown by electron microscopy that lamellar granules in biopsies of infants affected with harlequin ichthyosis are either ...
Milner, Martha E, O'Guin, W Michael, Holbrook, Karen A, Dale, Beverly A   +3 more
openaire   +2 more sources

Loss of ceramide synthase 3 causes lethal skin barrier disruption [PDF]

, 2017
The stratum corneum as the outermost epidermal layer protects against exsiccation and infection. Both the underlying cornified envelope (CE) and the intercellular lipid matrix contribute essentially to these two main protective barriers. Epidermis-unique
Bayerle, Aline, Dalpke, Alexander, Epstein, Sharon, Gorgas, Karin, Gröne, Hermann-Josef, Imgrund, Silke, Jennemann, Richard, Kirsch, Joachim, Nickel, Walter, Rabionet, Mariona, Riezman, Howard, Rothermel, Ulrike, Sandhoff, Roger, van der Hoeven, Franciscus, Willecke, Klaus   +14 more
core  

ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C gamma 1 and protein kinase C pathways [PDF]

, 2016
This work was supported by the German Research Foundation DFG (SFB 850/B6) and by the Fritz-Thyssen foundation (Az.10.14.2.150) to C.-W.F and the Medical Research Council (MR/L010402/1) to D.P ...
A Murthy, A Sääf, A Toker, AA Długosz, BM Lichtenberger, CA Strott, CP Blobel, CW Franzke, CW Franzke, DC Blaydon, DC Blaydon, E Candi, E Candi, E Proksch, E Ueda, EM Hur, F Spörl, G Adhikary, H Wakita, HR Seo, JJ Peschon, JM Haugh, K Chanprapaph, K Chida, K Nishi, L Eckhart, LJ Russell, M Jost, M Kashiwagi, M Ohba, M Piepkorn, M Pigors, M Raghunath, M Sibilia, MA Brooke, MF Denning, MF Denning, MJ Kim, MJ Wieduwilt, MR Schneider, NJ Reynolds, P Campbell, P Gierschik, P Tsukerman, PJ Miettinen, PT La Celle, RA Black, S John, S Kawabe, S Pastore, S Tholen, SS Tibudan, U Sahin, V Mitev, X Cheng, Z Xie   +55 more
core   +1 more source

Orchestrated control of filaggrin-actin scaffolds underpins cornification. [PDF]

, 2018
Epidermal stratification critically depends on keratinocyte differentiation and programmed death by cornification, leading to formation of a protective skin barrier.
Bernardino de la Serna, Jorge, Colin-York, Huw, Eggeling, Christian, Fritzsche, Marco, Gutowska-Owsiak, Danuta, Leeming, Michael, Naeem, Aishath, Ogg, Graham, O’Shaughnessy, Ryan, Podobas, Ewa Izabela   +9 more
core   +6 more sources

Infantile erythrodermic psoriasis: A case report and review of the literature

Indian Journal of Paediatric Dermatology, 2017
Erythroderma in infants can be attributed to plenty of causes, the more common ones being nonbullous congenital ichthyosiform erythroderma, lamellar ichthyosis, bullous congenital ichthyosiform erythroderma, severe atopic dermatitis, etc., However, there
Piyush Kumar, Anupam Das, Shvetha Jain
doaj   +1 more source

Lamellar ichthyosis–like eruption associated with ponatinib

Acta Dermatovenerologica Alpina Pannonica et Adriatica, 2016
[Abstract Not Available]
Örenay, Özge Mine, Sarifakioglu, Evren, Tamer, Funda, Yildirim, Umran   +3 more
openaire   +5 more sources

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome [PDF]

, 2017
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,
Al Saati, Talal, Bitoun, Emmanuelle, Bodemer, Christine, Bonnart, Chrystelle, Boralevi, Franck, Cobbold, Christian, D'Alessio, Marina, Harper, John, Hohl, Daniel, Hovnanian, Alain, Lamant, Laurence, Mariotti, Feliciana, Mazereeuw-Hautier, Juliette, Micheloni, Alessia, Tartaglia-Polcini, Alessandro   +14 more
core