Results 81 to 90 of about 18,577 (227)

Two Entities, One Patient

JEADV Clinical Practice, EarlyView.
Wael Zaina, Tomer Cohen, Judit Krausz, Michael Ziv, Roni P. Dodiuk‐Gad   +4 more
wiley   +1 more source

AP‐1B Controls Several Levels of Cell Proliferation and Differentiation in Mouse Enteroids

Biology of the Cell, Volume 118, Issue 8, August 2026.
We show that in mouse intestinal organoids, AP‐1B is implicated in apical polarity, differentiation in the secretory lineage and proliferation. In particular, we propose that proliferation is controlled by AP‐1B via the mTOR and YAP pathways. Arrows show the functional links that were elucidated in this study, and dotted lines show putative downstream ...
Maela Duclos, Anne Bourdais, Ophélie Nicolle, Alexandre Helpiquet, Grégoire Michaux, Aurélien Bidaud‐Meynard   +5 more
wiley   +1 more source

A case report of squamous cell carcinoma in ichthyosis hystrix Curth-Macklin

Turkderm Turkish Archives of Dermatology and Venereology
The Curth-Macklin type of ichthyosis hystrix is an extremely rare genodermatosis presenting as generalized or nevoid forms. Clinical expression varies in the time of onset and morphology, even within families, from painful palmoplantar keratoderma to a ...
Vishalakshi Pandit, Rakesh Yelhanka
doaj   +1 more source

Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.

Journal of dermatological science (Amsterdam), 2018
BACKGROUND ABHD5 mutations cause Chanarin-Dorfman syndrome accompanied by ichthyosis. ω-O-Acylceramide (acylceramide) is essential for skin permeability barrier formation. Acylceramide production is impaired in Abhd5 knockout mice.
Yusuke Ohno, Atsuki Nara, Shota Nakamichi, A. Kihara   +3 more
semanticscholar   +1 more source

Onychogryposis Secondary to Underlying Phalangeal Non‐Union

JEADV Clinical Practice, EarlyView.
Sunil Jaiswal, Shraddha Uprety, Pratichya Thapa, Smarika Upadhyaya, Aditi Joshi, Prakriti Lamichhane   +5 more
wiley   +1 more source

Physiological and Behavioural Characterisation of a Novel Steroid Sulfatase‐Deficient Mouse

Genes, Brain and Behavior, Volume 25, Issue 4, August 2026.
STS‐deficient mice are grossly healthy and breed as expected, but are mildly hyperactive and have heavier hearts compared with sex‐matched wildtype controls. ABSTRACT Steroid sulfatase (STS) cleaves sulphate groups from steroid hormones. In humans, STS deficiency is associated with X‐linked ichthyosis, an increased predisposition to neurodevelopmental ...
Trevor Humby, Freya R. Shepherd, Talia Elgie, Libby Anderson‐Watkins, Lucy I. Beevors, Angela E. Taylor, Paul A. Foster, William Davies   +7 more
wiley   +1 more source

Resolution of Pseudoainhum with Acitretin in Lamellar Ichthyosis

Nepal Journal of Dermatology, Venereology & Leprology
Lamellar ichthyosis is an autosomal recessive type of ichthyosis characterized by abnormal skin scaling, ectropion and ear abnormalities. Pseudoainhum is the appearance of constriction bands around digits which can lead to autoamputation of digits. Here
Srisukhirthi Sukumar, Nithiyaa Pavadai, Sheela Kuruvila   +2 more
doaj   +1 more source

Ichthyosis uteri with dysplasia - A case report

Indian Journal of Pathology and Microbiology, 2020
Ichthyosis uterus is an uncommon condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. This condition most commonly develops secondary to longstanding cervical obstruction or chronic inflammation.
Chitrawati B Gargade, Archana H Deshpande   +1 more
doaj   +1 more source

Self‐Assembled Skin Equivalents with Monoclonal CRISPR/Cas9‐Modified N/TERT‐1 Keratinocytes: A Cutting‐Edge Model for Human Skin and its Diseases

Advanced Healthcare Materials, Volume 15, Issue 25, 3 July 2026.
Self‐assembled, scaffold‐free full‐thickness skin equivalents with monoclonal, genetically modified N/TERT‐1 keratinocytes represent a novel in vitro model of human skin and skin diseases. The model is highly robust, reproducible, physiologically relevant, and suitable for high‐throughput applications.
Marta Slaufova, Tugay Karakaya, Michela Di Filippo, Thomas Kündig, Hans‐Dietmar Beer   +4 more
wiley   +1 more source

Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review

Italian Journal of Pediatrics, 2020
Background Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life.
Cinzia Auriti, Roberta Rotunno, Andrea Diociaiuti, Silvia Magni Manzoni, Andrea Uva, Iliana Bersani, Alessandra Santisi, Andrea Dotta, May El Hachem   +8 more
doaj   +1 more source