Genetic Skin Diseases

07/01/1996 - "Two were identical to point mutations in specific human keratin genes known to affect keratin assembly and to cause genetic skin diseases. "
08/01/1993 - "Genetic skin diseases caused by mutations in keratin intermediate filaments."
06/12/1992 - "Of mice and men: genetic skin diseases of keratin."
12/01/1991 - "DM-EBS may become the first genetic skin disease to be recognized as having a specific keratin abnormality."
02/01/1999 - "The mutations in the keratin genes expressed in the epidermis are etiologically responsible for several epidermal genetic skin diseases, such as epidermolysis bullosa simplex, epidermolytic hyperkeratosis (EHK), ichthyosis bullosa of Siemens, palmoplantar keratoderma, pachyonchia congenita and white sponge nevus. "

05/01/2014 - "Netherton syndrome (NTS) is a rare genetic skin disease caused by mutations in the serine protease inhibitor Kazal-type 5 gene, which encodes the lympho-epithelial Kazal-type-related inhibitor. "
03/01/2010 - "The physiology of the epidermis is maintained by a balance of protease and antiprotease activities, as illustrated by the rare genetic skin disease Netherton syndrome (NS), in which impaired inhibition of serine proteases causes severe skin erythema and scaling. "
07/01/2014 - "Netherton syndrome (NS; OMIM 256500) is a genetic skin disease resulting from defects in the serine protease inhibitor Kazal-type 5 (SPINK5) gene, which encodes the protease inhibitor lympho-epithelial Kazal type inhibitor (LEKTI). "
05/11/2009 - "Netherton syndrome (NS) is a severe genetic skin disease with constant atopic manifestations that is caused by mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene, which encodes the protease inhibitor lymphoepithelial Kazal-type-related inhibitor (LEKTI). "

03/10/2014 - "Netherton syndrome (NS) is a severe genetic skin disease in which absence of a key protease inhibitor causes congenital exfoliative erythroderma, eczematous-like lesions, and atopic manifestations. "
07/01/2014 - "Netherton syndrome (NS; OMIM 256500) is a genetic skin disease resulting from defects in the serine protease inhibitor Kazal-type 5 (SPINK5) gene, which encodes the protease inhibitor lympho-epithelial Kazal type inhibitor (LEKTI). "
05/11/2009 - "Netherton syndrome (NS) is a severe genetic skin disease with constant atopic manifestations that is caused by mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene, which encodes the protease inhibitor lymphoepithelial Kazal-type-related inhibitor (LEKTI). "

09/20/1997 - "These data demonstrate that partial restoration of gene expression can be achieved via direct injection of naked DNA in human genetic skin disease tissue but underscore the need for new advances to achieve efficient and sustained plasmid-based gene delivery to the skin."
04/01/2013 - "This article summarizes recent findings in genetic skin diseases, the scope of advances being made, the role of new DNA analysis technologies in these discoveries, as well as highlighting some examples of how an understanding of the genetic cause of inherited skin diseases can lead to therapeutic interventions for patients."
06/28/2012 - "Microneedle delivery of nucleic acids, in particular plasmid DNA (pDNA), to the skin represents a potential new approach for the clinical management of genetic skin diseases and cutaneous cancers, and for intracutaneous genetic immunisation. "

09/20/1997 - "We have regenerated skin from transglutaminase 1 (TGase1)-deficient patients with the genetic skin disease lamellar ichthyosis (LI) on nude mice to examine the corrective impact of direct naked plasmid injection. "
02/01/1998 - "The recent identification of genetic skin diseases with mutations in the genes encoding some of these proteins, including transglutaminase 1 and loricrin, has disclosed that abnormal cornified cell envelope synthesis is significantly involved in the pathophysiology of certain inherited keratodermas and reflects perturbations in the complex, yet highly orderly process of cornified cell envelope formation in normal skin biology."

07/01/2012 - "Tumor Necrosis Factor-α (TNF-α) plays a pivotal role in psoriasis, an immuno-mediated and genetic skin disease. "

02/01/1998 - "The recent identification of genetic skin diseases with mutations in the genes encoding some of these proteins, including transglutaminase 1 and loricrin, has disclosed that abnormal cornified cell envelope synthesis is significantly involved in the pathophysiology of certain inherited keratodermas and reflects perturbations in the complex, yet highly orderly process of cornified cell envelope formation in normal skin biology."

06/01/2006 - "As such, the development of PGD for HS-RDEB broadens the range of prenatal testing options and personal choice for couples at reproductive risk of this severe genetic skin disease."

06/28/2012 - "Microneedle delivery of nucleic acids, in particular plasmid DNA (pDNA), to the skin represents a potential new approach for the clinical management of genetic skin diseases and cutaneous cancers, and for intracutaneous genetic immunisation. "

05/01/2011 - "Darier disease (DD) was the first genetic skin disease caused by abnormal epidermal calcium homeostasis to be identified. "

01/01/2015 - "Genetic skin diseases or transplants were found to have been correlated with 10.0% of cases with multiple lesions - an average of 5.1 lesions per patient. "
01/01/2015 - "It is not unusual to find multiple tumors in young people - in most cases, they are not associated with genetic skin diseases or transplants. "
01/01/2015 - "Frequency, trends, and incidence of cases with single and multiple lesions were analyzed; transplants and genetic skin diseases were found in cases with multiple lesions.RESULTS Over the period, 1,995 skin cancer cases were observed to found, of which 1,524 (90.3%) cases had single lesions and 164 (9.7%) had multiple lesions. "

01/01/2011 - "Cell-type-specific differentiation and molecular profiles in skin transplantation: implication of medical approach for genetic skin diseases."

01/01/2011 - "From a dermatological viewpoint, we review the recent update of cell-type- and molecular-specific action associated with reconstitution of the grafted skin and also focus on the novel application of BM transplantation medicine in genetic skin diseases."