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Reduced epidermal keratin 14 protein expression

MedGen UID:
1841769
•Concept ID:
C5826827
•
Finding
HPO: HP:0035003

Definition

Amount of keratin 14 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 14 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
Proliferation is the main epidermal target in the treatment of psoriatic plaques with once daily application of tacalcitol ointment.
Castelijns FA, Gerritsen MJ, van Vlijmen-Willems IM, van Erp PJ, van de Kerkhof PC
Acta Derm Venereol 1999 Mar;79(2):111-4. doi: 10.1080/000155599750011309. PMID: 10228627

Recent clinical studies

Etiology

An innovative three-dimensional model of normal human skin to study the proinflammatory psoriatic effects of tumor necrosis factor-alpha and interleukin-17.
Donetti E, Cornaghi L, Gualerzi A, Baruffaldi Preis FW, Prignano F
Cytokine 2014 Jul;68(1):1-8. Epub 2014 Apr 6 doi: 10.1016/j.cyto.2014.03.003. PMID: 24787050
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

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
Expression of dominant negative Jun inhibits elevated AP-1 and NF-kappaB transactivation and suppresses anchorage independent growth of HPV immortalized human keratinocytes.
Li JJ, Rhim JS, Schlegel R, Vousden KH, Colburn NH
Oncogene 1998 May 28;16(21):2711-21. doi: 10.1038/sj.onc.1201798. PMID: 9652737
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
Pigment-independent cAMP-mediated epidermal thickening protects against cutaneous UV injury by keratinocyte proliferation.
Scott TL, Christian PA, Kesler MV, Donohue KM, Shelton B, Wakamatsu K, Ito S, D'Orazio J
Exp Dermatol 2012 Oct;21(10):771-7. doi: 10.1111/exd.12012. PMID: 23078399Free PMC Article
Targeted expression of bcl-2 to murine basal epidermal keratinocytes results in paradoxical retardation of ultraviolet- and chemical-induced tumorigenesis.
Rossiter H, Beissert S, Mayer C, Schön MP, Wienrich BG, Tschachler E, Kupper TS
Cancer Res 2001 May 1;61(9):3619-26. PMID: 11325830
Efficacy of calcipotriol ointment applied under hydrocolloid occlusion in psoriasis.
Castelijns FA, Gerritsen MJ, van Erp PE, van de Kerkhof PC
Dermatology 2000;200(1):25-30. doi: 10.1159/000018310. PMID: 10681609
Proliferation is the main epidermal target in the treatment of psoriatic plaques with once daily application of tacalcitol ointment.
Castelijns FA, Gerritsen MJ, van Vlijmen-Willems IM, van Erp PJ, van de Kerkhof PC
Acta Derm Venereol 1999 Mar;79(2):111-4. doi: 10.1080/000155599750011309. PMID: 10228627

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
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

Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
Logli E, Marzuolo E, D'Agostino M, Conti LA, Lena AM, Diociaiuti A, Dellambra E, Has C, Cianfanelli V, Zambruno G, El Hachem M, Magenta A, Candi E, Condorelli AG
Hum Mol Genet 2022 Apr 22;31(8):1308-1324. doi: 10.1093/hmg/ddab318. PMID: 34740256Free PMC Article
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
IRF6 expression in basal epithelium partially rescues Irf6 knockout mice.
Kousa YA, Moussa D, Schutte BC
Dev Dyn 2017 Sep;246(9):670-681. Epub 2017 Jul 19 doi: 10.1002/dvdy.24537. PMID: 28643456Free PMC Article
Cystatin C deficiency promotes epidermal dysplasia in K14-HPV16 transgenic mice.
Yu W, Liu J, Shi MA, Wang J, Xiang M, Kitamoto S, Wang B, Sukhova GK, Murphy GF, Orasanu G, Grubb A, Shi GP
PLoS One 2010 Nov 15;5(11):e13973. doi: 10.1371/journal.pone.0013973. PMID: 21085595Free PMC Article
Keratin expression in normal skin and epidermal neoplasms demonstrated by a panel of monoclonal antibodies.
Perkins W, Campbell I, Leigh IM, MacKie RM
J Cutan Pathol 1992 Dec;19(6):476-82. doi: 10.1111/j.1600-0560.1992.tb01600.x. PMID: 1283171

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