Results 131 to 140 of about 517,181 (258)

Соціальна адаптація хворих на іхтіоз: гендерні, вікові та спадкові особливості [PDF]

, 2015
Представлено результати вивчення особливостей соціальної адаптації хворих на іхтіоз Подільського регіону відносно гендерних, вікових та спадкових особливостей.
Дмитренко, С.В.
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A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
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The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier [PDF]

, 2014
This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3, and our current views on their functioning.
Brash, Alan R., Keeney, Diane S., Muñoz-Garcia, Agustí, Thomas, Christopher P., Zheng, Yuxiang   +4 more
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Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

Human Mutation, 2019
Autosomal recessive congenital ichthyosis (ARCI) belongs to a heterogeneous group of disorders of keratinization. To date, 10 genes have been identified to be causative for ARCI.
N. Ballin, A. Hotz, E. Bourrat, J. Küsel, V. Oji, B. Bouadjar, D. Brognoli, G. Hickman, L. Heinz, Pierre Vabres, S. Marrakchi, S. Leclerc‐Mercier, A. Irvine, G. Tadini, H. Hamm, C. Has, U. Blume-Peytavi, D. Mitter, Marina Reitenbach, I. Hausser, A. Zimmer, S. Alter, J. Fischer   +22 more
semanticscholar   +1 more source

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

Human Mutation, 2018
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin.
A. Hotz, E. Bourrat, J. Küsel, V. Oji, S. Alter, L. Hake, M. Korbi, H. Ott, I. Hausser, A. Zimmer, J. Fischer   +10 more
semanticscholar   +1 more source

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
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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

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
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Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Turkish Journal of Hematology, 2013
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement.
Seçil Arslansoyu Çamlar, Pınar Gençpınar, Balahan Makay, Ayşe Yüzbaşıoğlu, Nur Arslan, Serap Emre Dökmeci, Özden Anal, Galip Köse   +7 more
doaj   +1 more source

Torsten Sjögren and Tage Larsson: Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatrica et neurologica scandinavica. Supplementum 113, Volumen 32, Einar Munksgaard Ed. Copenhagen 1957. [PDF]

, 1957
Mario Cirielli
openalex   +1 more source