Results 21 to 30 of about 317,567 (261)

Genetical Studies on Skin Diseases

open access: yesThe 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

Host genetic factors related to innate immunity, environmental sensing and cellular functions are associated with human skin microbiota

open access: yesNature Communications, 2022
Microbiome composition is influenced by genetics, although the specific host genetic factors responsible are not well known. Here, the authors performed a genome-wide meta-analysis to discover host genetic effects on skin microbiota and finding potential
Lucas Moitinho-Silva   +17 more
doaj   +1 more source

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

open access: yesActa 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   +7 more
doaj   +1 more source

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

open access: yesActa Dermato-Venereologica
is missing (Short communication)
Shuya Sun   +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]

open access: yesF1000Research, 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   +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]

open access: yesF1000Research, 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   +7 more
doaj   +1 more source

Algal Lipids as Modulators of Skin Disease: A Critical Review

open access: yesMetabolites, 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   +8 more
doaj   +1 more source

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

open access: yesAnais 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   +3 more
doaj   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani   +7 more
wiley   +1 more source

Tyrosine Kinases in Autoimmune and Inflammatory Skin Diseases

open access: yesFrontiers 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   +2 more
doaj   +1 more source

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