Results 21 to 30 of about 371 (141)

A Novel Mutation in the 1A Domain of Keratin 2e in Ichthyosis Bullosa of Siemens [PDF]

Journal of Investigative Dermatology, 1999
Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK). Both diseases have been linked to the type II keratin cluster on chromosome 12q. Hyperkeratosis and blister formation are relatively mild in IBS compared with EHK, and the lysis of keratinocytes is ...
Arin, M. J., Longley, M. A., Epstein, E. H., Scott, G., Goldsmith, L. A., Rothnagel, J. A., Roop, D. R.   +6 more
openaire   +3 more sources

Keratins in Skin Epidermal Development and Diseases [PDF]

, 2018
Epidermal keratinocyte (KC), the major cell type in the skin epidermis, plays critical roles in forming a permeability barrier to separate internal organs from external stimuli.
Zhang, Ling-juan
core   +2 more sources

Life-threatening dermatoses in neonates and newborns [PDF]

, 2018
The differentiation of life-threatening dermatoses in newborn is of utmost importance. Infectious diseases, developmental defects and complicated genodermatoses are among the most important causes.
Broshtilova, Valentina, Dimitrova, Jeni, Georgieva, Filka, Marina, Sonya, Nikolov, Dimitar   +4 more
core   +2 more sources

A New Keratin 2e Mutation in Ichthyosis Bullosa of Siemens

Journal of Investigative Dermatology, 1997
Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin condition with features similar to epidermolytic hyperkeratosis (EH). Clinical symptoms are characterized by mild hyperkeratosis with an acral distribution. Histology shows epidermolysis of upper spinous and granular cells, whereas ultrastructurally, tonofilaments form perinuclear ...
Jones, David O, Watts, Clair, Mills, Caroline, Sharpe, Graham, Marks, Ronald, Bowden, Paul E.   +5 more
openaire   +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

Neonatal Skin Disorders: A Review of Selected Dermatologic Abnormalities

, 2000
The skin serves many purposes, acting as a barrier to infection, protecting internal organs, contributing to temperature regulation, storing insulating fats, excreting electrolytes and water, and providing tactile sensory input. This article focuses on a
Banta-Wright, Sandra, Campbell, Juliana
core   +1 more source

Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs [PDF]

, 2005
Background  Epidermolytic hyperkeratosis in humans is caused by dominant-negative mutations in suprabasal epidermal keratins 1 and 10. However, spontaneous keratin mutations have not been confirmed in a species other than human.
Barnhart, K. F., Credille, K. M., Dunstan, R. W., Minor, J. S.   +3 more
core   +1 more source

Örökletes és immunológiai bőrgyógyászati kórképek epidemiológiai és molekuláris genetikai vizsgálata = Epidemiological and molecular genetic study of the inherited and immunodermatological diseases [PDF]

, 2009
Örökletes bőrgyógyászati megbetegedések: A genetikai hátterű bőrgyógyászati betegségek között kiemelt jelentőségű az epidermolysis bullosa (EB) csoport.
Medvecz, Márta
core  

Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene

Journal of Investigative Dermatology, 1994
Ichthyosis bullosa of Siemens is a blistering disorder with autosomal dominant inheritance. The disease resembles bullous congenital ichthyosiform erythroderma but is less severe. Keratins K1 and K10 have been implicated in bullous congenital ichthyosiform erythroderma. Linkage analysis pointed to the involvement of a keratin type II gene (12q11-13) in
Kremer, Hannie, Zeeuwen, Patrick, McLean, W H Irwin, Mariman, Edwin C M, Lane, E Birgitte, van de Kerkhof, Peter C M, Ropers, Hans-Hilger, Steijlen, Peter M   +7 more
openaire   +2 more sources

A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex Iidicates the Importance of the amino acid located at the boundary site between the H1 and coil 1A domains [PDF]

, 2013
No abstractThis work was supported in part by Grant-in-Aid for Research Activity Start-up (to S. S.; 23890006) from the Ministry of Education, Culture, Sports, Science and Technology of Japan and by “Research on Measures for Intractable Diseases ...
Akiyama, Masashi, Jacyk, Witold Kamil, Nakamura, Hideki, Natsuga, Ken, Nishie, Wataru, Shimizu, Hiroshi, Shinkuma, Satoru, Ujiie, Hideyuki   +7 more
core   +1 more source