Results 81 to 90 of about 3,562 (228)

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
This study reports a novel case of trichothiodystrophy (TTD) linked to compound heterozygous ERCC2 variants, presenting with progressive cerebral hypomyelination. The findings highlight a rare association between ERCC2 mutations and hypomyelinating leukodystrophy, expanding the current understanding of TTD‐related neurodevelopmental disorders. ABSTRACT
Ali Reza Tavasoli, Arastoo Kaki, Maedeh Ganji, Seyyed Mohammad Kahani, Foozhan Radmehr, Pouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, Kara S. Lewis   +8 more
wiley   +1 more source

DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects

BMC Veterinary Research, 2022
Background Ichthyosis describes a localized or generalized hereditary cornification disorder caused by an impaired terminal keratinocyte differentiation resulting in excessive stratum corneum with the formation of more or less adherent scales. Ichthyosis
Irene M. Häfliger, Caroline T. Koch, Astrid Michel, Silvia Rüfenacht, Mireille Meylan, Monika M. Welle, Cord Drögemüller   +6 more
doaj   +1 more source

Loss of ceramide synthase 3 causes lethal skin barrier disruption [PDF]

, 2017
The stratum corneum as the outermost epidermal layer protects against exsiccation and infection. Both the underlying cornified envelope (CE) and the intercellular lipid matrix contribute essentially to these two main protective barriers. Epidermis-unique
Bayerle, Aline, Dalpke, Alexander, Epstein, Sharon, Gorgas, Karin, Gröne, Hermann-Josef, Imgrund, Silke, Jennemann, Richard, Kirsch, Joachim, Nickel, Walter, Rabionet, Mariona, Riezman, Howard, Rothermel, Ulrike, Sandhoff, Roger, van der Hoeven, Franciscus, Willecke, Klaus   +14 more
core  

A qualitative exploration of the prospective acceptability of the MiDerm app; a complex digital intervention for adults living with skin conditions

British Journal of Health Psychology, Volume 30, Issue 1, February 2025.
Abstract Objectives Skin conditions carry a substantial psychological burden but support for patients is limited. Digital technology could support patient self‐management; we found preliminary evidence for the effectiveness and acceptability of digital psychological interventions for adults living with skin conditions.
Rachael M. Hewitt, Carys Dale, Catherine Purcell, Rachael Pattinson, Chris Bundy   +4 more
wiley   +1 more source

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

Dermatologica Sinica, 2018
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy   +4 more
doaj  

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

The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis [PDF]

, 2011
ABCA12 is a member of the large superfamily of ATP-binding cassette (ABC) transporters, which bind and hydrolyze ATP to transport various molecules across limiting membranes or into vesicles.
Akiyama, Masashi
core   +2 more sources

Biological Effects of a Fine Fiber Film Treated With a Lotion to Improve Dry Skin

Skin Research and Technology, Volume 31, Issue 2-5, February-May 2025.
ABSTRACT Background Dry skin is a universal skin concern that is often accompanied by itching, but moisturizers have not completely solved this issue. We found that the combination of a moisturizer (lotion) and an ultra‐thin film of fine fiber (FF) that we developed improved dry skin early, but the biological mechanism within the skin remained unclear.
Shun Sasaoka, Yu Gabe, Masayuki Uchiyama, Anita Stepp, Asuka Imai, Akira Hachiya, Akira Kiyomine   +6 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  

Disorders of fatty acid homeostasis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders   +3 more
wiley   +1 more source