Results 51 to 60 of about 1,627,653 (237)

Large-scale survey to estimate the prevalence of disorders for 192 Kennel Club registered breeds [PDF]

, 2017
Background Pedigree or purebred dogs are often stated to have high prevalence of disorders which are commonly assumed to be a consequence of inbreeding and selection for exaggerated features.
Evans, K M, Lewis, T W, Llewellyn-Zaidi, A M, O'Neill, D G, Wiles, B M   +4 more
core   +3 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

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]

, 2017
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam, Barzegar, Mohammadreza, Ertel, Adam, Fortina, Paolo, Kajbafzadeh, Abdol Mohammad, Mozafari, Nikoo, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +11 more
core   +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

Spatiotemporal co-existence of two Mycobacterium ulcerans clonal complexes in the Offin River Valley of Ghana [PDF]

, 2016
In recent years, comparative genome sequence analysis of African Mycobacterium ulcerans strains isolated from Buruli ulcer (BU) lesion specimen has revealed a very limited genetic diversity of closely related isolates and a striking association between ...
Aboagye, Samuel, Ampah, Kobina Assan, Asante-Poku, Adwoa, Asare, Prince, Danso, Emelia, Harris, Simon R., Kerber, Sarah, Lamelas, Araceli, Parkhill, Julian, Pluschke, Gerd, Röltgen, Katharina, Yeboah-Manu, Dorothy   +11 more
core   +2 more sources

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

Complement Activation in Inflammatory Skin Diseases

Frontiers in Immunology, 2018
The complement system is a fundamental part of the innate immune system, playing a crucial role in host defense against various pathogens, such as bacteria, viruses, and fungi. Activation of complement results in production of several molecules mediating
J. Giang, M. Seelen, M. V. van Doorn, R. Rissmann, E. Prens, J. Damman   +5 more
semanticscholar   +1 more source