Results 81 to 90 of about 5,714 (207)

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  

A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity. [PDF]

, 2015
Keratin intermediate filaments (KIFs) protect the epidermis against mechanical force, support strong adhesion, help barrier formation, and regulate growth.
Adams, Alam, Alvarado, Arin, Baris, Bianchi, Bligh, Bunick, Bär, Böttinger, Candi, Candi, Capetanaki, Chan, Chernoivanenko, Christina B. Brazel, Chung, Coulombe, Coulombe, Crowe, Dennis R. Roop, Duan, Egberts, Ellis, Epand, Fessing, Fontanesi, Fuchs, Fuchs, Gendronneau, Geng, Habtezion, Haines, Hamanaka, Hans Binder, Hardman, Helenius, Henry Löffler-Wirth, Herrmann, Hesse, Hoefs, Homberg, Homberg, Hornig-Do, Hoste, Hue-Tran Hornig-Do, Huebner, Jamal-Eddine Bouameur, Janina Bär, Jaquemar, Jarnik, Jayaprakash, Kalinin, Kato, Kawasaki, Kerns, Kim, Kim, Kloepper, Koch, Kröger, Kröger, Kuramoto, Kypriotou, Laatsch, Lane, Langbein, Lessard, Lim, Loschke, Macdiarmid, Magin, Matsui, Matsuki, McAleer, Mor-Vaknin, Nakamichi, Nestle, Nicole Schwarz, Nishizawa, Norlén, Oji, Owens, Palmer, Panjwani, Paradies, Peter Seibel, Preethi Vijayaraj, Quigley, Reichelt, Reichelt, Reichelt, Rice, Rice, Rice, Robert H. Rice, Roop, Rorke, Roth, Roth, Rowland, Rudolf E. Leube, Rudolf J. Wiesner, Sabharwal, Sakaguchi, Samuelov, Samuelov, Sandilands, Sandra Heller, Schmuth, Schweizer, Schäfer, Schäfer, Segre, Segre, Seltmann, Seltmann, Seltmann, Sevilla, Signorelli, Simpson, Singla, Smith, Susanne Brodesser, Szeverenyi, Sören Thiering, Takahashi, Tamai, Tao, Tasseva, Tatsuta, Thomas M. Magin, Vijayaraj, Vijayaraj, Vinod Kumar, Wallace, Watt, Yao, Yu, Zeeuwen, Özbalci   +140 more
core   +1 more source

Basic Emollients for Xerosis Cutis in Atopic Dermatitis: A Review of Clinical Studies

International Journal of Dermatology, Volume 64, Issue S1, Page 13-28, June 2025.
ABSTRACT Xerosis cutis (dry skin) is a common and burdensome symptom of atopic dermatitis (AD). Topical emollients restore skin hydration and barrier function through the physicochemical properties of their nonactive constituents (e.g., glycerol, urea, lactic acid, liquid paraffin, petrolatum) and represent the mainstay of basic therapy for xerosis ...
Andreas Wollenberg, Sebastien Barbarot, Antonio Torrelo   +2 more
wiley   +1 more source

Successful outcome of lamellar ichthyosis with oral retinoid therapy: A series of six cases

Indian Journal of Paediatric Dermatology, 2016
Lamellar ichthyosis (LI) is a rare skin disorder inherited as an autosomal recessive trait. Affected babies are born in a collodion membrane that sheds gradually revealing extensive scaling of the skin.
K Pratyusha, P Divya Sree, BSN Reddy
doaj   +1 more source

Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis [PDF]

, 2016
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program.
Adase, Christopher A, Adir, Noam, Ast, Gil, Bochner, Ron, Campbell, Linda E., Erez, Noam, Fainberg, Gilad, Gallo, Richard L., Gat, Andrea, Goldberg, Ilan, Gottlieb, Yehonatan, Isakov, Ofer, Li, Qiaoli, MacCallum, Stephanie, Malchin, Natalia, McLean, W. H. Irwin, Pavlovsky, Mor, Peled, Alon, Rogers, Tova, Samuelov, Liat, Sandilands, Aileen, Sarig, Ofer, Shayevitch, Ronna, Shomron, Noam, Sprecher, Eli, Uitto, Jouni, Vodo, Dan, Warshauer, Emily, Yu, Benjamin D.   +28 more
core   +2 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  

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

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. [PDF]

, 2014
To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field.To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of
Benediktsdottir, Kristrun R, Corredera, Cristina, Fuentelsaz, Victoria, Grasa, Matilde, Gudbjartsson, Daniel F, Gudjonsson, Sigurjon A, Gudmundsson, Julius, Gurzau, Eugene, Helgadottir, Hafdis T, Hemminki, Kari, Johannsdottir, Hrefna, Jonasdottir, Aslaug, Kong, Augustine, Koppova, Kvetoslava, Kumar, Rajiv, Masson, Gisli, Mayordomo, José I, Nagore, Eduardo, Nexø, Bjørn A, Olafsson, Jon H, Overvad, Kim, Planelles, Dolores, Rafnar, Thorunn, Ragnarsson, Rafn, Rudnai, Peter, Sanmartin, Onofre, Sigurgeirsson, Bardur, Stacey, Simon N, Stefansson, Kari, Sulem, Patrick, Thorisdottir, Kristin, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tjønneland, Anne, Vogel, Ulla   +34 more
core   +1 more source

Mutations in TGM6 induce the unfolded protein response in SCA35 [PDF]

, 2017
Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by mutations in the TGM6 gene, which codes for transglutaminase 6 (TG6). Mutations in TG6 induce cerebellar degeneration by an unknown mechanism.
Aeschlimann, Daniel, Aeschlimann, Pascale, Basso, Manuela, Canossa, Marco, Coutelier, Marie, Durr, Alexandra, Hadjivassiliou, Marios, Monin, Marie-Lorraine, Pandey, Udai B., Pennuto, Maria, Polanco, Maria Jose, Ramesh, Nandini, Schmahmann, Jeremy D., Stephen, Christopher D., Tripathy, Debasmita, Turberville, Shannon, Vignoli, Beatrice   +16 more
core   +2 more sources

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