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Junctional epidermolysis bullosa (medicine)

Index Junctional epidermolysis bullosa (medicine)

Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone. [1]

19 relations: Basement membrane, Collagen, type XVII, alpha 1, Cutaneous condition, Dominance (genetics), Epidermis, Epidermolysis bullosa, Germany, Hemidesmosome, Integrin alpha 6, Integrin beta 4, Junctional epidermolysis bullosa (veterinary medicine), Lamina lucida, Laminin, Laminin, alpha 3, Laminin, beta 3, Laminin, gamma 2, Online Mendelian Inheritance in Man, Syria, The International League of Dermatological Societies.

Basement membrane

The basement membrane is a thin, fibrous, extracellular matrix of tissue that separates the lining of an internal or external body surface from underlying connective tissue in metazoans.

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Collagen, type XVII, alpha 1

Collagen XVII, previously called BP180, is a transmembrane protein which plays a critical role in maintaining the linkage between the intracellular and the extracellular structural elements involved in epidermal adhesion.

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Cutaneous condition

A cutaneous condition is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, hair, nails, and related muscle and glands.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Epidermis

The epidermis is the outer layer of the three layers that make up the skin, the inner layers being the dermis and hypodermis.

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Epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of genetic conditions that result in easy blistering of the skin and mucous membranes.

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Germany

Germany (Deutschland), officially the Federal Republic of Germany (Bundesrepublik Deutschland), is a sovereign state in central-western Europe.

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Hemidesmosome

Hemidesmosomes (HD) are very small stud-like structures found in keratinocytes of the epidermis of skin that attach to the extracellular matrix (ECM).

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Integrin alpha 6

Integrin alpha-6 is a protein that in humans is encoded by the ITGA6 gene.

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Integrin beta 4

Integrin, beta 4 (ITGB4) also known as CD104 (Cluster of Differentiation 104), is a human gene.

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Junctional epidermolysis bullosa (veterinary medicine)

Junctional epidermolysis bullosa (JEB) is an inherited disorder that is also known as red foot disease or hairless foal syndrome.

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Lamina lucida

The lamina lucida is a component of the basement membrane which is found between the epithelium and underlying connective tissue (e.g., epidermis and dermis of the skin).

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Laminin

Laminins are high-molecular weight (~400 to ~900 kDa) proteins of the extracellular matrix.

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Laminin, alpha 3

Laminin subunit alpha-3 is a protein that in humans is encoded by the LAMA3 gene.

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Laminin, beta 3

Laminin subunit beta-3 is a protein that in humans is encoded by the LAMB3 gene.

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Laminin, gamma 2

Laminin subunit gamma-2 is a protein that in humans is encoded by the LAMC2 gene.

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Online Mendelian Inheritance in Man

Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.

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Syria

Syria (سوريا), officially known as the Syrian Arab Republic (الجمهورية العربية السورية), is a country in Western Asia, bordering Lebanon and the Mediterranean Sea to the west, Turkey to the north, Iraq to the east, Jordan to the south, and Israel to the southwest.

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The International League of Dermatological Societies

The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization.

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Redirects here:

Epidermolysis bullosa lethalis, Epidermolysis bullosa, junctional, Junctional epidermolysis bullosa gravis, Junctional epidermolysis bullosa with pyloric atresia, Lethal junctional epidermolysis bullosa, Nonlethal junctional epidermolysis bullosa.

References

[1] https://en.wikipedia.org/wiki/Junctional_epidermolysis_bullosa_(medicine)

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