Results 111 to 120 of about 528,814 (282)

Multiple sulfatase deficiency with neonatal manifestation. [PDF]

, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue ...
Ballabio, A., Bernasconi, S., Braibanti, S., Frattini, D., Gabrielli, O., Galeazzi, T., Garavelli, L., Gargano, G., Gelmini, C., Iori, A., Iughetti, L., Ivanovski, I., Melli, N., Padella, L., Pedori, S., Pepe, S., Rosato, S., Santoro, L., Superti-Furga, A., Wischmeijer, A., Zampini, L.   +20 more
core   +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

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

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
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

How Congenital Skin Lesions Are Perceived by Health Professionals in the Delivery Room—The Reconnaissance Study

Pediatric Dermatology, Volume 43, Issue 1, Page 43-48, January/February 2026.
ABSTRACT Objective To assess self‐reported knowledge and reactions of health professionals in the delivery room (HPDR) when facing a congenital skin lesion (CSL). Methods A cross‐sectional study was conducted at Angers University Hospital Maternity, Angers, France, between October and December 2023.
Brieuc Berthelot, Juliette Prémel, Maud Pichereau, Emma Moulinier, Pauline Vabres, Ludovic Martin   +5 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  

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

Biomedicines
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the ...
Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito   +23 more
doaj   +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

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

Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis–Ichthyosis–Deafness (KID) Syndrome With Topical Mefenamic Acid

Pediatric Dermatology, Volume 43, Issue 1, Page 145-148, January/February 2026.
ABSTRACT Keratitis–ichthyosis–deafness (KID) syndrome is a rare genetic condition typically presenting at birth with ichthyosiform erythroderma and bilateral hearing loss and later progressing to diffuse keratodermatous plaques with scaling. The condition is associated with mutations in the GJB2 gene, which lead to aberrant activation of connexin ...
Radhika Gupta, Alisa Ho, Lars Brichta, Albert C. Yan   +3 more
wiley   +1 more source

Interventions for congenital ichthyosis

Cochrane Database of Systematic Reviews, 2014
Reason for withdrawal from publication The authors have relinquished responsibility for this protocol. It was published several years ago, and Cochrane Skin have decided to withdraw it (Managing Editor, Cochrane Skin).
Danielsen, Patricia L, Thirthar Palanivelu, Vetrichevvel, Mukhtar, Aqif S., Duke, Janine M., Mocellin, Simone   +4 more
openaire   +3 more sources