Genetic Skin Diseases

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11 relevant articles (0 outcomes, 0 trials/studies) found for this Disease

Description: Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.

Also Known As:

Skin Diseases, Genetic; Disease, Genetic Skin; Diseases, Genetic Skin; Genetic Skin Disease; Skin Disease, Genetic

Disease Context: Research Results

Related Diseases

1.	Ichthyosis Bullosa of Siemens
2.	Lamellar Ichthyosis (Harlequin Ichthyosis)
3.	Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
4.	Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara)
5.	Syndrome

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Genetic Skin Diseases:

1.	Keratins (Keratin)IBA 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." 01/25/1991 - "Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease." Order ALL the reference details at left...
2.	transglutaminase 1IBA 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." Order ALL the reference details at left...
3.	Serine Endopeptidases (Serine Protease)IBA 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). " Order ALL the reference details at left...
4.	Proteins (Proteins, Gene)IBA 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." Order ALL the reference details at left...
5.	Protease Inhibitors (Protease Inhibitor)IBA 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). " Order ALL the reference details at left...
6.	Prostaglandins D (PGD)IBA 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." Order ALL the reference details at left...
7.	DNA (Deoxyribonucleic Acid)IBA 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." Order ALL the reference details at left...
8.	Adenosine Triphosphatases (ATPase)IBA 10/01/2004 - "The role of extracellular Ca2+ in cell-to-cell adhesion and in epidermal differentiation was known to be important, but the identification of the sarco/endoplasmic reticulum Ca2+ transport ATPase (ATP2A2) as the defective gene in a rare genetic skin disease known as Darier's disease, came as a surprise and shed light on the key role of Ca2+ signaling in the homeostasis of the epidermis." Order ALL the reference details at left...
9.	loricrinIBA 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." Order ALL the reference details at left...

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