Results 61 to 70 of about 5,642 (200)

Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Egyptian Journal of Medical Human Genetics, 2016
Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms.
Rabah M. Shawky, Solaf M. Elsayed, Heba Amgad   +2 more
doaj   +1 more source

Progress in the use of adeno-associated viral vectors for gene therapy [PDF]

, 2004
The development of safe and efficient gene transfer vectors is crucial for the success of gene therapy trials. A viral vector system promising to meet these requirements is based on the apathogenic adeno-associated virus (AAV-2), a member of the ...
Braun-Falco, M., Buning, H., Hallek, M.
core   +1 more source

Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report

Pharmacogenomics and Personalized Medicine, 2022
Jing Zeng, Baihui Shan, Lu Guo, Sha Lv, Fuqiu Li Department of Dermatology, the Second Hospital of Jilin University, Changchun, People’s Republic of ChinaCorrespondence: Fuqiu Li, Department of Dermatology, the Second Hospital of Jilin University, No ...
Zeng J, Shan B, Guo L, Lv S, Li F
doaj  

Pott disease in a 14-year-old girl affected by congenital lamellar ichthyosis type 3 and diabetes mellitus

Journal of Global Infectious Diseases, 2018
Extrapulmonary manifestations of tuberculosis (TB) are particularly frequent during childhood, and usually involve the lymph nodes and the skull. They are related to predisposing immunosuppression conditions.
Maria Elena Cucuzza, Flavia La Mendola, Angela D'Ambra, Pierluigi Smilari, Filippo Greco, Agata Fiumara, Andrea D Praticò   +6 more
doaj   +1 more source

Functional and proteomic analysis of a full thickness filaggrin-deficient skin organoid model [PDF]

, 2019
Background: Atopic eczema is an itchy inflammatory disorder characterised by skin barrier dysfunction. Loss-of-function mutations in the gene encoding filaggrin (FLG) are a major risk factor, but the mechanisms by which filaggrin haploinsufficiency leads
A Fabregat, A Naeem, A Sandilands, A Sandilands, B Kim, C Cole, C Cole, C Finan, C Flohr, C Hausmann, C He, C Lefèvre, C Palmer, D Szklarczyk, D Tobin, E Hoste, E Leclerc, E Rodriguez, E van den Bogaard, F Smith, G Denecker, G McIlroy, H Alexander, H Baurecht, H Han, H Niehues, J Bergboer, J Folch, J Rheinwald, J Silverberg, J Timmerman, K Purdie, K Vávrová, L Paternoster, M Elias, M Elias, M Ferreira, M Kamsteeg, M Kretz, M Visser, N Markova, N Novak, P Arkwright, P Di Meglio, P Gao, R Gruber, R Gruber, R Mateu, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Johansson, S Smith, S Weidinger, T Elango, T Gil, T Matsui, V Rothhammer, V van Drongelen, W Damsky, W Nirunsuksiri, Y Dou, Y Lee, Y Perez-Riverol, Z Xie, Z Zhu   +71 more
core   +3 more sources

Spontaneous corneal perforation in a patient with lamellar ichthyosis and dry eye

Clinical Ophthalmology, 2009
Burak Turgut1, Orhan Aydemir1, Murat Kaya1, Peykan Türkçüog? lu2, Tamer Demir1, Ülkü Çeliker11Firat University School of Medicine, Department of Ophthalmology, Elazig, Turkey; 2Inonu University ...
Burak Turgut, Orhan Aydemir, Murat Kaya, et al   +3 more
doaj  

Lamellar congenital ichthyosis in practice of dermatologists

Vestnik Dermatologii i Venerologii, 2017
The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and ...
S. V. Koshkin, T. V. Chermnykh, A. L. Evseeva, V. V. Ryabova, A. N. Ryabov   +4 more
doaj   +1 more source

Correlation study of facial lipid profile differences and skin physiological characteristics in Chinese women aged 19–33 years

International Journal of Cosmetic Science, Volume 47, Issue 5, Page 752-767, October 2025.
The facial SC lipid profiles of young Chinese women in the early aging stage exhibited significant changes with age. The average chain length of diacylglycerol, triacylglycerol and short‐chain ceramides decreases with age, while the cholesteryl ester and ceramide EO subclasses increase. Some ceramides correlate positively with TEWL, skin elasticity and
Yumei Fan, Chunhua Wei, Ning Su, Yanyun Ma, Wei Liu, Peiwen Sun, Shuo Shan   +6 more
wiley   +1 more source

The precise structures and stereochemistry of trihydroxy-linoleates esterified in human and porcine epidermis and their significance in skin barrier function: Implication of an epoxide hydrolase in the transformations of linoleate [PDF]

, 2016
Creation of an intact skin water barrier, a prerequisite for life on dry land, requires the lipoxygenase-catalyzed oxidation of the essential fatty acid linoleate, which is esterified to the ω-hydroxyl of an epidermis-specific ceramide.
Boeglin, William E., Brash, Alan R., Calcutt, M. Wade, Chiba, Takahito, O'Donnell, Valerie B., Thomas, Christopher P.   +5 more
core   +1 more source

Evaluation of canine epidermis and keratinocytoids (keratinocytic organoids) by transmission electron microscopy

Veterinary Dermatology, Volume 36, Issue 5, Page 696-702, October 2025.
Background – Skin disease is a common complaint in veterinary medicine. Current models often use live animals. Epidermal organoids (keratinocytoids) are 3D miniature organs created in culture from single epidermal keratinocytes. These keratinocytoids can be used as an alternative to live animal studies to investigate epidermal structures and skin ...
Clinson C. Lui, Dominique J. Wiener, Katia R. Groch, Lauren W. Stranahan, Christina R. Heard, Aníbal G. Armién   +5 more
wiley   +1 more source