Results 21 to 30 of about 305,683 (163)

Genetical Studies on Skin Diseases

The Tohoku Journal of Experimental Medicine, 1952
Two cases of hair nevus were reported. The authors studied them chiefly with Bielschowsky-Seto's silver impregnation method. The fact that the hair follicles were usually accompanied by the nerve bundles was clearly recognized. Furthermore in our second case, the grandmother had a similartumor in the front of her left tragus in her childhood.
Miura, Masao, Komatsu, Akibumi
openaire   +6 more sources

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +1 more source

Somatic Variants of KRT1/KRT10 Identified by Next-generation Sequencing in Patients with Epidermal Nevi

Acta Dermato-Venereologica
is missing (Short communication)
Shuya Sun, Ran Mo, Zhiming Chen, Yong Yang, Ruiyu Xiang   +4 more
doaj   +1 more source

Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 1; referees: 2 approved, 1 approved with reservations]

F1000Research, 2016
Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma.
Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Sreelata Nair, Rowmika Ravi, Vigneshwar Senthivel, Sridhar Sivasubbu, Vinod Scaria   +7 more
doaj   +1 more source

Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 2; referees: 2 approved, 1 approved with reservations]

F1000Research, 2016
Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma.
Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Sreelata Nair, Rowmika Ravi, Vigneshwar Senthivel, Sridhar Sivasubbu, Vinod Scaria   +7 more
doaj   +1 more source

Algal Lipids as Modulators of Skin Disease: A Critical Review

Metabolites, 2022
The prevalence of inflammatory skin diseases continues to increase with a high incidence in children and adults. These diseases are triggered by environmental factors, such as UV radiation, certain chemical compounds, infectious agents, and in some cases,
Tiago Conde, Diana Lopes, Wojciech Łuczaj, Bruno Neves, Bruno Pinto, Tatiana Maurício, Pedro Domingues, Elżbieta Skrzydlewska, M. Rosário Domingues   +8 more
doaj   +1 more source

Inherited epidermolysis bullosa: update on the clinical and genetic aspects, [PDF]

Anais Brasileiros de Dermatologia, 2020
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma.
Luiza Monteavaro Mariath, Juliana Tosetto Santin, Lavínia Schuler-Faccini, Ana Elisa Kiszewski   +3 more
doaj   +1 more source

Ferroptosis: Mechanism and connections with cutaneous diseases

Frontiers in Cell and Developmental Biology, 2023
Ferroptosis is a recognized novel form of programmed cell death pathway, featuring abnormalities in iron metabolism, SystemXc−/glutathione axis, and lipid peroxidation regulation.
Lihao Liu, Ni Lian, Liqing Shi, Zhimin Hao, Kun Chen   +4 more
doaj   +1 more source

Trace element zinc and skin disorders

Frontiers in Medicine, 2023
Zinc is a necessary trace element and an important constituent of proteins and other biological molecules. It has many biological functions, including antioxidant, skin and mucous membrane integrity maintenance, and the promotion of various enzymatic and
Pan Zou, Yuxin Du, Chunguang Yang, Yuchun Cao   +3 more
doaj   +1 more source

Tyrosine Kinases in Autoimmune and Inflammatory Skin Diseases

Frontiers in Immunology, 2019
Tyrosine kinases relay signals from diverse leukocyte antigen receptors, innate immune receptors, and cytokine receptors, and therefore mediate the recruitment and activation of various leukocyte populations. Non-receptor tyrosine kinases of the Jak, Src,
Kata P. Szilveszter, Tamás Németh, Attila Mócsai   +2 more
doaj   +1 more source