Results 131 to 140 of about 528,814 (282)

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  

Expanding the Genetic Spectrum of ANOS1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism [PDF]

, 2012
STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)?
Gonçalves, CI, Fonseca, F, Borges, T, Cunha, F, Lemos, MC   +4 more
core   +1 more source

Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2 [PDF]

, 2000
Elina Virolainen, Maija Wessman, Iiris Hovatta, Kirsti‐Maria Niemi, Jaakko Ignatius, Juha Kere, Leena Peltonen, Aarno Palotie   +7 more
openalex   +1 more source

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

Acta Dermato-Venereologica, 2019
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far.
U. Esperón-Moldes, M. Ginarte Val, L. Rodríguez‐Pazos, L. Fachal, J. M. Azaña, M. Fons, Mónica Viejo Diaz, A. Vega   +7 more
semanticscholar   +1 more source

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core  

Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

Experimental Dermatology, 2018
Autosomal recessive congenital ichthyosis (ARCI) is a group of monogenic skin disorders caused by mutations in any of at least 12 different genes, many of which are involved in the epidermal synthesis of ω‐O‐acylceramides (acylCer). AcylCer are essential
Hanqian Zhang, Maja Ericsson, S. Weström, A. Vahlquist, M. Virtanen, H. Törmä   +5 more
semanticscholar   +1 more source

Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. [PDF]

, 2011
Zebrafish (Danio rerio) can serve as a model system to study heritable skin diseases. The skin is rapidly developed during the first 5-6 days of embryonic growth, accompanied by expression of skin-specific genes. Transmission electron microscopy (TEM) of
Akiyama, Masashi, Frank, Michael, Ho, Shiu-Ying, Li, Qiaoli, Shimizu, Hiroshi, Sprecher, Eli, Thisse, Bernard, Thisse, Christine, Uitto, Jouni   +8 more
core   +4 more sources

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

Indian Journal of Pathology and Microbiology, 2010
Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene.
Mitra Souvik, Samanta Moumita, Sarkar Mihir, Chatterjee Sukanta   +3 more
doaj  

The canine era : the rise of a biomedical model [PDF]

, 2016
Since the annotation of its genome a decade ago, the dog has proven to be an excellent model for the study of inherited diseases. A large variety of spontaneous simple and complex phenotypes occur in dogs, providing physiologically relevant models to ...
Abecasis, Agler, Ahonen, Ahram, Arendt, Awano, Axelsson, Bannasch, Baranowska Korberg, Boyko, Broeckx, Cadieu, Cerda-Gonzalez, Clark, Cooke, Daetwyler, de Sluis, Decker, Downs, Dreger, Drogemuller, Drogemuller, ENCODE Project Consortium, Everts, FANTOM Consortium, Forman, Forman, Freedman, French FMF Consortium, Genome of the Netherlands Consortium, Grall, Grundberg, Guo, Hayward, Hoeppner, Hytonen, Karlsson, Karlsson, Ke, Kim, Kirkness, Koskinen, Kyostila, Lavrijsen, Lavrijsen, Lee, Leegwater, Lequarre, Lin, Lindblad-Toh, Liu, Lohi, Massey, Merveille, Motohashi, Newton, Olsson, Ostrander, Packer, Pang, Parker, Parker, Pennisi, Rands, Roque, Roque, Salmon Hillbertz, Sargan, Savolainen, Schmutz, Schoenebeck, Seppala, Shannon, Skipper, Stamatoyannopoulos, Stritzel, Sudmant, Sutter, Sutter, Sutter, Tang, Tengvall, Thalmann, Tietz, Tonomura, Vaysse, vonHoldt, Voorbij, Wang, Wang, Wayne, Wilbe, Willet, Wolf, Yokoyama, Yoshida, Yuzbasiyan-Gurkan, Zanna   +97 more
core   +1 more source

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +1 more source