Results 111 to 120 of about 573,924 (254)

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

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, Volume 10, Issue 2, 22 January 2026.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

Invasive ocular surface squamous neoplasia in congenital ichthyosiform erythroderma

TNOA Journal of Ophthalmic Science and Research, 2017
We report an invasive type of ocular surface squamous neoplasia (OSSN) in a patient with congenital ichthyosiform erythroderma. A male patient aged 44 years, with ichthyosis presented with progressively growing right corneal mass, with decreasing vision.
Dhivya Ashok Kumar, Sasikala Nindra Krishna   +1 more
doaj   +1 more source

Cytochrome b 5 null mouse: a new model for studying inherited skin disorders and the role of unsaturated fatty acids in normal homeostasis [PDF]

, 2010
Microsomal cytochrome b (5) is a ubiquitous, 15.2 kDa haemoprotein implicated in a number of cellular processes such as fatty acid desaturation, drug metabolism, steroid hormone biosynthesis and methaemoglobin reduction.
Robert D. Finn, Lesley A. McLaughlin, Catherine Hughes, Chengli Song, Colin J. Henderson, C. Roland Wolf   +5 more
core   +1 more source

HAI-2 stabilizes, inhibits, and regulates SEA-cleavage-dependent secretory transport of matriptase [PDF]

, 2017
It has recently been shown that HAI-2 is able to suppress carcinogenesis induced by overexpression of matriptase, as well as cause regression of individual established tumors in a mouse model system. However, the role of HAI-2 is poorly understood.
Barre, Basel-Vanagaite, Benaud, Chang, Cho, Creighton, Delaria, Desilets, Ellgaard, Friedrich, Friis, Friis, Friis, Godiksen, Godiksen, Heinz-Erian, Hong, Hoshiko, Inouye, Inouye, Kataoka, Kawaguchi, Kim, Kim, Larsen, Lee, Levitin, Lin, Lin, Lin, List, List, List, List, List, List, List, Macao, Netzel-Arnett, Oberst, Oberst, Pendlebury, Qin, Ranasinghe, Sales, Sales, Shimomura, Szabo, Szabo, Szabo, Szabo, Szabo, Takeuchi, Tanaka, Tsai, Wlodawer, Zhao   +56 more
core   +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

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +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
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

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