Results 31 to 40 of about 587,556 (305)

From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]

, 2015
Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
core   +2 more sources

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.
M, MIURA, A, KOMATSU
openaire   +6 more sources

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]

, 2017
NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico, Bianchi, Marzia, Carrozzo, Rosalba, Christodoulou, John, Di Nottia, Michela, Diodato, Daria, Dionisi Vico, Carlo, Francisci, Silvia, Gelmetti, Vania, Guo, Yiran, Lucarelli, Barbarella, Martinelli, Diego, Montanari, Arianna, Niceta, Marcello, Piemonte, Fiorella, Riley, Lisa, Rizza, Teresa, Sorrentino, Francesco, Tartaglia, Marco, Torraco, Alessandra, Valente, Enza Maria, Verrigni, Daniela   +21 more
core   +2 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

No association of CTLA-4 polymorphisms with susceptibility to Behcet disease [PDF]

, 2009
Background: Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is a key negative regulator of T lymphocytes and has been shown to be associated with a number of autoimmune diseases. The present study was performed to assess the association between CTLA-
Du, L., Hou, S., Kijlstra, A., Yang, P., Zhou, H.   +4 more
core   +2 more sources

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

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

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