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Abnormal epidermal protein expression

MedGen UID:: 1842057
•Concept ID:: C5826488
•: Finding

HPO:	HP:0034573

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal epidermal protein expression

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Abnormal epidermal morphology
        Abnormal epidermal protein expression
        Reduced epidermal bullous pemphigoid antigen 1 protein expression
        Reduced epidermal collagen IV protein expression
        Reduced epidermal collagen VII protein expression
        Reduced epidermal collagen XVII protein expression
        Reduced epidermal extracellular matrix protein 1 protein expression
        Reduced epidermal integrin alpha6beta4 protein expression
        Reduced epidermal keratin protein expression
        Reduced epidermal keratin 10 protein expression
        Reduced epidermal keratin 14 protein expression
        Reduced epidermal keratin 5 protein expression
        Reduced epidermal kindlin-1 expression
        Reduced epidermal plectin protein expression

Professional guidelines

PubMed

EGFR Signaling Is Overactive in Pachyonychia Congenita: Effective Treatment with Oral Erlotinib.

Basset J, Marchal L, Hovnanian A
J Invest Dermatol 2023 Feb;143(2):294-304.e8. Epub 2022 Sep 16 doi: 10.1016/j.jid.2022.08.045. PMID: 36116508

Challenges for the application of EGFR-targeting peptide GE11 in tumor diagnosis and treatment.

Hailing T, Yonghong P, Yufeng Z, Haitao T
J Control Release 2022 Sep;349:592-605. Epub 2022 Jul 22 doi: 10.1016/j.jconrel.2022.07.018. PMID: 35872181

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Vahlquist A, Fischer J, Törmä H
Am J Clin Dermatol 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. PMID: 28815464 Free PMC Article

See all (42)

Recent clinical studies

Etiology

A case of junctional epidermolysis bullosa intermediate with collagen XVII deficiency treated with dupilumab.

Zhang L, Wang S, Chen Q, Xiang L
J Dermatolog Treat 2023 Dec;34(1):2253943. Epub 2023 Nov 15 doi: 10.1080/09546634.2023.2253943. PMID: 37968922

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

Evtushenko NA, Beilin AK, Kosykh AV, Vorotelyak EA, Gurskaya NG
Int J Mol Sci 2021 Nov 18;22(22) doi: 10.3390/ijms222212446. PMID: 34830328 Free PMC Article

Epidermal growth factors in the kidney and relationship to hypertension.

Staruschenko A, Palygin O, Ilatovskaya DV, Pavlov TS
Am J Physiol Renal Physiol 2013 Jul 1;305(1):F12-20. Epub 2013 May 1 doi: 10.1152/ajprenal.00112.2013. PMID: 23637204 Free PMC Article

One remarkable molecule: filaggrin.

Brown SJ, McLean WH
J Invest Dermatol 2012 Mar;132(3 Pt 2):751-62. Epub 2011 Dec 8 doi: 10.1038/jid.2011.393. PMID: 22158554 Free PMC Article

Biomarkers in Barrett esophagus.

Krishnadath KK, Reid BJ, Wang KK
Mayo Clin Proc 2001 Apr;76(4):438-46. doi: 10.4065/76.4.438. PMID: 11322362

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Diagnosis

Abnormally activated OPN/integrin αVβ3/FAK signalling is responsible for EGFR-TKI resistance in EGFR mutant non-small-cell lung cancer.

Fu Y, Zhang Y, Lei Z, Liu T, Cai T, Wang A, Du W, Zeng Y, Zhu J, Liu Z, Huang JA
J Hematol Oncol 2020 Dec 7;13(1):169. doi: 10.1186/s13045-020-01009-7. PMID: 33287873 Free PMC Article

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Vahlquist A, Fischer J, Törmä H
Am J Clin Dermatol 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. PMID: 28815464 Free PMC Article

HER2 testing in gastric cancer: An update.

Abrahao-Machado LF, Scapulatempo-Neto C
World J Gastroenterol 2016 May 21;22(19):4619-25. doi: 10.3748/wjg.v22.i19.4619. PMID: 27217694 Free PMC Article

Epidermal growth factors in the kidney and relationship to hypertension.

Staruschenko A, Palygin O, Ilatovskaya DV, Pavlov TS
Am J Physiol Renal Physiol 2013 Jul 1;305(1):F12-20. Epub 2013 May 1 doi: 10.1152/ajprenal.00112.2013. PMID: 23637204 Free PMC Article

Biomarkers in Barrett esophagus.

Krishnadath KK, Reid BJ, Wang KK
Mayo Clin Proc 2001 Apr;76(4):438-46. doi: 10.4065/76.4.438. PMID: 11322362

See all (363)

Therapy

Abnormally activated OPN/integrin αVβ3/FAK signalling is responsible for EGFR-TKI resistance in EGFR mutant non-small-cell lung cancer.

Fu Y, Zhang Y, Lei Z, Liu T, Cai T, Wang A, Du W, Zeng Y, Zhu J, Liu Z, Huang JA
J Hematol Oncol 2020 Dec 7;13(1):169. doi: 10.1186/s13045-020-01009-7. PMID: 33287873 Free PMC Article

Nutrition and Psoriasis.

Kanda N, Hoashi T, Saeki H
Int J Mol Sci 2020 Jul 29;21(15) doi: 10.3390/ijms21155405. PMID: 32751360 Free PMC Article

Dupilumab progressively improves systemic and cutaneous abnormalities in patients with atopic dermatitis.

Guttman-Yassky E, Bissonnette R, Ungar B, Suárez-Fariñas M, Ardeleanu M, Esaki H, Suprun M, Estrada Y, Xu H, Peng X, Silverberg JI, Menter A, Krueger JG, Zhang R, Chaudhry U, Swanson B, Graham NMH, Pirozzi G, Yancopoulos GD, D Hamilton JD
J Allergy Clin Immunol 2019 Jan;143(1):155-172. Epub 2018 Sep 5 doi: 10.1016/j.jaci.2018.08.022. PMID: 30194992

EGFR-TKIs resistance via EGFR-independent signaling pathways.

Liu Q, Yu S, Zhao W, Qin S, Chu Q, Wu K
Mol Cancer 2018 Feb 19;17(1):53. doi: 10.1186/s12943-018-0793-1. PMID: 29455669 Free PMC Article

Protein kinase D enzymes: novel kinase targets in pancreatic cancer.

Liou GY, Storz P
Expert Rev Gastroenterol Hepatol 2015;9(9):1143-6. Epub 2015 Jul 17 doi: 10.1586/17474124.2015.1069706. PMID: 26174103 Free PMC Article

See all (301)

Prognosis

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

Evtushenko NA, Beilin AK, Kosykh AV, Vorotelyak EA, Gurskaya NG
Int J Mol Sci 2021 Nov 18;22(22) doi: 10.3390/ijms222212446. PMID: 34830328 Free PMC Article

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Vahlquist A, Fischer J, Törmä H
Am J Clin Dermatol 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x. PMID: 28815464 Free PMC Article

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.

Atanasova VS, Jiang Q, Prisco M, Gruber C, Piñón Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP
J Invest Dermatol 2017 Sep;137(9):1842-1849. Epub 2017 May 24 doi: 10.1016/j.jid.2017.05.011. PMID: 28549954 Free PMC Article

HER2 testing in gastric cancer: An update.

Abrahao-Machado LF, Scapulatempo-Neto C
World J Gastroenterol 2016 May 21;22(19):4619-25. doi: 10.3748/wjg.v22.i19.4619. PMID: 27217694 Free PMC Article

Biomarkers in Barrett esophagus.

Krishnadath KK, Reid BJ, Wang KK
Mayo Clin Proc 2001 Apr;76(4):438-46. doi: 10.4065/76.4.438. PMID: 11322362

See all (303)

Clinical prediction guides

Human filaggrin monomer does not seem to be a proteasome target.

Briot J, Arbey E, Goudounèche D, Bernard D, Simon M, Méchin MC
Exp Dermatol 2024 Jan;33(1):e14772. Epub 2023 Feb 26 doi: 10.1111/exd.14772. PMID: 36807394

Transcriptomic Repositioning Analysis Identifies mTOR Inhibitor as Potential Therapy for Epidermolysis Bullosa Simplex.

Lee GH, Lekwuttikarn R, Tafoya E, Martin M, Sarin KY, Teng JM
J Invest Dermatol 2022 Feb;142(2):382-389. Epub 2021 Sep 15 doi: 10.1016/j.jid.2021.07.170. PMID: 34536484

HER2 testing in gastric cancer: An update.

Abrahao-Machado LF, Scapulatempo-Neto C
World J Gastroenterol 2016 May 21;22(19):4619-25. doi: 10.3748/wjg.v22.i19.4619. PMID: 27217694 Free PMC Article

Keratinocytes in epidermal immune responses.

Steinhoff M, Brzoska T, Luger TA
Curr Opin Allergy Clin Immunol 2001 Oct;1(5):469-76. doi: 10.1097/01.all.0000011062.60720.e3. PMID: 11964729

Biomarkers in Barrett esophagus.

Krishnadath KK, Reid BJ, Wang KK
Mayo Clin Proc 2001 Apr;76(4):438-46. doi: 10.4065/76.4.438. PMID: 11322362

See all (689)

Recent systematic reviews

Neurotrophic factors, childhood trauma and psychiatric disorders: A systematic review of genetic, biochemical, cognitive and imaging studies to identify potential biomarkers.

Di Benedetto MG, Scassellati C, Cattane N, Riva MA, Cattaneo A
J Affect Disord 2022 Jul 1;308:76-88. Epub 2022 Apr 2 doi: 10.1016/j.jad.2022.03.071. PMID: 35378148

Protein biomarker for psoriasis: A systematic review on their role in the pathomechanism, diagnosis, potential targets and treatment of psoriasis.

Yadav K, Singh D, Singh MR
Int J Biol Macromol 2018 Oct 15;118(Pt B):1796-1810. Epub 2018 Jul 11 doi: 10.1016/j.ijbiomac.2018.07.021. PMID: 30017989

The HLA-B*15:02 polymorphism and Tegretol(®)-induced serious cutaneous reactions in epilepsy: An updated systematic review and meta-analysis.

Chouchi M, Kaabachi W, Tizaoui K, Daghfous R, Aidli SE, Hila L
Rev Neurol (Paris) 2018 May;174(5):278-291. doi: 10.1016/j.neurol.2017.11.006. PMID: 29685430

Prognostic value of c-MET in head and neck cancer: A systematic review and meta-analysis of aggregate data.

Szturz P, Budíková M, Vermorken JB, Horová I, Gál B, Raymond E, de Gramont A, Faivre S
Oral Oncol 2017 Nov;74:68-76. Epub 2017 Sep 27 doi: 10.1016/j.oraloncology.2017.09.009. PMID: 29103754

Lapatinib and trastuzumab in combination with an aromatase inhibitor for the first-line treatment of metastatic hormone receptor-positive breast cancer which over-expresses human epidermal growth factor 2 (HER2): a systematic review and economic analysis.

Fleeman N, Bagust A, Boland A, Dickson R, Dundar Y, Moonan M, Oyee J, Blundell M, Davis H, Armstrong A, Thorp N
Health Technol Assess 2011;15(42):1-93, iii-iv. doi: 10.3310/hta15420. PMID: 22152751 Free PMC Article

See all (5)

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Abnormal epidermal protein expression

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Clinical resources

Practice guidelines

Consumer resources

Reviews

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