Reduced epidermal integrin alpha6beta4 protein expression

MedGen UID:: 1842139
•Concept ID:: C5826494
•: Finding

Synonym:	Skin biopsy: integrin alpha6beta4 antibody staining abnormal or absent

HPO:	HP:0034579

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced epidermal integrin alpha6beta4 protein expression

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Abnormal epidermal morphology
        Abnormal epidermal protein expression
        Reduced epidermal integrin alpha6beta4 protein expression

Recent clinical studies

Etiology

Differential regulation of integrins and extracellular matrix binding in epidermal differentiation and squamous tumor progression.

Tennenbaum T, Belanger AJ, Quaranta V, Yuspa SH
J Investig Dermatol Symp Proc 1996 Apr;1(2):157-61. PMID: 9627711

Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia.

Brown TA, Gil SG, Sybert VP, Lestringant GG, Tadini G, Caputo R, Carter WG
J Invest Dermatol 1996 Sep;107(3):384-91. doi: 10.1111/1523-1747.ep12363370. PMID: 8751975

See all (2)

Diagnosis

PKD2 and RSK1 Regulate Integrin β4 Phosphorylation at Threonine 1736.

Te Molder L, Sonnenberg A
PLoS One 2015;10(11):e0143357. Epub 2015 Nov 18 doi: 10.1371/journal.pone.0143357. PMID: 26580203 Free PMC Article

An immunochromatographic assay to detect reduced level of laminin-5 gamma2 in sulfur mustard-exposed normal human epidermal keratinocytes.

Jin X, Ray R, Ray P
J Appl Toxicol 2008 Aug;28(6):759-64. doi: 10.1002/jat.1335. PMID: 18300329

The androgen receptor associates with the epidermal growth factor receptor in androgen-sensitive prostate cancer cells.

Bonaccorsi L, Muratori M, Carloni V, Marchiani S, Formigli L, Forti G, Baldi E
Steroids 2004 Aug;69(8-9):549-52. doi: 10.1016/j.steroids.2004.05.011. PMID: 15288768

Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa.

Phillips RJ, Aplin JD, Lake BD
Histopathology 1994 Jun;24(6):571-6. doi: 10.1111/j.1365-2559.1994.tb00578.x. PMID: 8063286

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