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Reduced epidermal keratin 5 protein expression

MedGen UID:
1842018
•Concept ID:
C5826826
•
Finding
HPO: HP:0035002

Definition

Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced epidermal keratin 5 protein expression

Professional guidelines

PubMed

A cell-based drug discovery assay identifies inhibition of cell stress responses as a new approach to treatment of epidermolysis bullosa simplex.
Tan TS, Common JEA, Lim JSY, Badowski C, Firdaus MJ, Leonardi SS, Lane EB
J Cell Sci 2021 Oct 1;134(19) Epub 2021 Oct 13 doi: 10.1242/jcs.258409. PMID: 34643242Free PMC Article

Recent clinical studies

Etiology

Breast carcinoma with basal differentiation: a proposal for pathology definition based on basal cytokeratin expression.
Rakha EA, El-Sayed ME, Green AR, Paish EC, Lee AH, Ellis IO
Histopathology 2007 Mar;50(4):434-8. doi: 10.1111/j.1365-2559.2007.02638.x. PMID: 17448018
Expression of syndecan-1 and expression of epidermal growth factor receptor are associated with survival in patients with nonsmall cell lung carcinoma.
Shah L, Walter KL, Borczuk AC, Kawut SM, Sonett JR, Gorenstein LA, Ginsburg ME, Steinglass KM, Powell CA
Cancer 2004 Oct 1;101(7):1632-8. doi: 10.1002/cncr.20542. PMID: 15378500

Diagnosis

Electrical stimulation promotes the proliferation of human keratinocytes, increases the production of keratin 5 and 14, and increases the phosphorylation of ERK1/2 and p38 MAP kinases.
Rouabhia M, Park HJ, Abedin-Do A, Douville Y, Méthot M, Zhang Z
J Tissue Eng Regen Med 2020 Jul;14(7):909-919. Epub 2020 May 27 doi: 10.1002/term.3040. PMID: 32293799
Hyperglycemia Induces Skin Barrier Dysfunctions with Impairment of Epidermal Integrity in Non-Wounded Skin of Type 1 Diabetic Mice.
Okano J, Kojima H, Katagi M, Nakagawa T, Nakae Y, Terashima T, Kurakane T, Kubota M, Maegawa H, Udagawa J
PLoS One 2016;11(11):e0166215. Epub 2016 Nov 15 doi: 10.1371/journal.pone.0166215. PMID: 27846299Free PMC Article
Breast carcinoma with basal differentiation: a proposal for pathology definition based on basal cytokeratin expression.
Rakha EA, El-Sayed ME, Green AR, Paish EC, Lee AH, Ellis IO
Histopathology 2007 Mar;50(4):434-8. doi: 10.1111/j.1365-2559.2007.02638.x. PMID: 17448018
Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.
Morley SM, Dundas SR, James JL, Gupta T, Brown RA, Sexton CJ, Navsaria HA, Leigh IM, Lane EB
J Cell Sci 1995 Nov;108 ( Pt 11):3463-71. doi: 10.1242/jcs.108.11.3463. PMID: 8586658

Therapy

Hyperglycemia Induces Skin Barrier Dysfunctions with Impairment of Epidermal Integrity in Non-Wounded Skin of Type 1 Diabetic Mice.
Okano J, Kojima H, Katagi M, Nakagawa T, Nakae Y, Terashima T, Kurakane T, Kubota M, Maegawa H, Udagawa J
PLoS One 2016;11(11):e0166215. Epub 2016 Nov 15 doi: 10.1371/journal.pone.0166215. PMID: 27846299Free PMC Article
Clinical and immunohistochemical study of the effect of a cosmetic product in patients with asteatotic eczema.
Caproni M, Torchia D, Pestelli E, Volpi W, Fabbri P, Schincaglia E
Int J Tissue React 2005;27(1):23-9. PMID: 15847102

Prognosis

A cell-based drug discovery assay identifies inhibition of cell stress responses as a new approach to treatment of epidermolysis bullosa simplex.
Tan TS, Common JEA, Lim JSY, Badowski C, Firdaus MJ, Leonardi SS, Lane EB
J Cell Sci 2021 Oct 1;134(19) Epub 2021 Oct 13 doi: 10.1242/jcs.258409. PMID: 34643242Free PMC Article
The transmembrane protein LRIG1 triggers melanocytic tumor development following chemically induced skin carcinogenesis.
Hoesl C, Fröhlich T, Posch C, Kneitz H, Goebeler M, Schneider MR, Dahlhoff M
Mol Oncol 2021 Aug;15(8):2140-2155. Epub 2021 Mar 31 doi: 10.1002/1878-0261.12945. PMID: 33786987Free PMC Article
CD44 correlates with clinicopathological characteristics and is upregulated by EGFR in breast cancer.
Xu H, Wu K, Tian Y, Liu Q, Han N, Yuan X, Zhang L, Wu GS, Wu K
Int J Oncol 2016 Oct;49(4):1343-50. Epub 2016 Jul 29 doi: 10.3892/ijo.2016.3639. PMID: 27499099Free PMC Article
Fragile histidine triad protein, WW domain-containing oxidoreductase protein Wwox, and activator protein 2gamma expression levels correlate with basal phenotype in breast cancer.
Guler G, Huebner K, Himmetoglu C, Jimenez RE, Costinean S, Volinia S, Pilarski RT, Hayran M, Shapiro CL
Cancer 2009 Feb 15;115(4):899-908. doi: 10.1002/cncr.24103. PMID: 19130459Free PMC Article
Breast carcinoma with basal differentiation: a proposal for pathology definition based on basal cytokeratin expression.
Rakha EA, El-Sayed ME, Green AR, Paish EC, Lee AH, Ellis IO
Histopathology 2007 Mar;50(4):434-8. doi: 10.1111/j.1365-2559.2007.02638.x. PMID: 17448018

Clinical prediction guides

A cell-based drug discovery assay identifies inhibition of cell stress responses as a new approach to treatment of epidermolysis bullosa simplex.
Tan TS, Common JEA, Lim JSY, Badowski C, Firdaus MJ, Leonardi SS, Lane EB
J Cell Sci 2021 Oct 1;134(19) Epub 2021 Oct 13 doi: 10.1242/jcs.258409. PMID: 34643242Free PMC Article
The transmembrane protein LRIG1 triggers melanocytic tumor development following chemically induced skin carcinogenesis.
Hoesl C, Fröhlich T, Posch C, Kneitz H, Goebeler M, Schneider MR, Dahlhoff M
Mol Oncol 2021 Aug;15(8):2140-2155. Epub 2021 Mar 31 doi: 10.1002/1878-0261.12945. PMID: 33786987Free PMC Article
ERBB3 is required for tumor promotion in a mouse model of skin carcinogenesis.
Dahlhoff M, Schäfer M, Muzumdar S, Rose C, Schneider MR
Mol Oncol 2015 Nov;9(9):1825-33. Epub 2015 Jul 3 doi: 10.1016/j.molonc.2015.06.007. PMID: 26194695Free PMC Article
Fragile histidine triad protein, WW domain-containing oxidoreductase protein Wwox, and activator protein 2gamma expression levels correlate with basal phenotype in breast cancer.
Guler G, Huebner K, Himmetoglu C, Jimenez RE, Costinean S, Volinia S, Pilarski RT, Hayran M, Shapiro CL
Cancer 2009 Feb 15;115(4):899-908. doi: 10.1002/cncr.24103. PMID: 19130459Free PMC Article
Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.
Morley SM, Dundas SR, James JL, Gupta T, Brown RA, Sexton CJ, Navsaria HA, Leigh IM, Lane EB
J Cell Sci 1995 Nov;108 ( Pt 11):3463-71. doi: 10.1242/jcs.108.11.3463. PMID: 8586658

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