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    DSG1 desmoglein 1 [ Homo sapiens (human) ]

    Gene ID: 1828, updated on 9-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Melanoma cells repress Desmoglein 1 in keratinocytes to promote tumor cell migration.

    Melanoma cells repress Desmoglein 1 in keratinocytes to promote tumor cell migration.
    Burks HE, Pokorny JL, Koetsier JL, Roth-Carter QR, Arnette CR, Gerami P, Seykora JT, Johnson JL, Ren Z, Green KJ., Free PMC Article

    09/22/2023
    Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement.

    Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement.
    Kawamura T, Muramatsu K, Orita A, Mai Y, Sugai T, Haga N, Fujimura Y, Miyauchi T, Izumi K, Koga H, Ishii N, Ujiie H.

    03/23/2023
    Epidermal stratification requires retromer-mediated desmoglein-1 recycling.

    Epidermal stratification requires retromer-mediated desmoglein-1 recycling.
    Hegazy M, Koetsier JL, Huffine AL, Broussard JA, Godsel BM, Cohen-Barak E, Sprecher E, Wolfgeher DJ, Kron SJ, Godsel LM, Green KJ., Free PMC Article

    12/31/2022
    Dsg1 and Dsg3 Composition of Desmosomes Across Human Epidermis and Alterations in Pemphigus Vulgaris Patient Skin.

    Dsg1 and Dsg3 Composition of Desmosomes Across Human Epidermis and Alterations in Pemphigus Vulgaris Patient Skin.
    Schmitt T, Pircher J, Steinert L, Meier K, Ghoreschi K, Vielmuth F, Kugelmann D, Waschke J., Free PMC Article

    06/25/2022
    Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells.

    Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells.
    Katiyar P, Stachon T, Fries FN, Parow F, Ulrich M, Langenbucher A, Cayless A, Seitz B, Käsmann-Kellner B, Latta L, Szentmáry N.

    05/7/2022
    Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations.

    Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations.
    Takeuchi S, Takeichi T, Koike Y, Takama H, Tanahashi K, Okuno Y, Ishii N, Muro Y, Ogi T, Suga Y, Akiyama M.

    02/26/2022
    Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease.

    Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease.
    Zimmer SE, Takeichi T, Conway DE, Kubo A, Suga Y, Akiyama M, Kowalczyk AP., Free PMC Article

    02/5/2022
    Identification of a primary antigenic target of epitope spreading in endemic pemphigus foliaceus.

    Identification of a primary antigenic target of epitope spreading in endemic pemphigus foliaceus.
    Peng B, Temple BR, Yang J, Geng S, Culton DA, Qian Y., Free PMC Article

    11/27/2021
    Negative Expression of DSG1 and DSG2, as Prognostic Biomarkers, Impacts on the Overall Survival in Patients with Extrahepatic Cholangiocarcinoma.

    Negative Expression of DSG1 and DSG2, as Prognostic Biomarkers, Impacts on the Overall Survival in Patients with Extrahepatic Cholangiocarcinoma.
    Xu S, Huang S, Li D, Zou Q, Yuan Y, Yang Z., Free PMC Article

    08/7/2021
    Keratinocyte cadherin desmoglein 1 controls melanocyte behavior through paracrine signaling.

    Keratinocyte cadherin desmoglein 1 controls melanocyte behavior through paracrine signaling.
    Arnette CR, Roth-Carter QR, Koetsier JL, Broussard JA, Burks HE, Cheng K, Amadi C, Gerami P, Johnson JL, Green KJ., Free PMC Article

    01/2/2021
    The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.

    The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.
    Cohen-Barak E, Godsel LM, Koetsier JL, Hegazy M, Kushnir-Grinbaum D, Hammad H, Danial-Farran N, Harmon R, Khayat M, Bochner R, Peled A, Rozenblat M, Krausz J, Sarig O, Johnson JL, Ziv M, Shalev SA, Sprecher E, Green KJ., Free PMC Article

    11/21/2020
    Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes.

    Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes.
    Zamiri M, Wilson NJ, O'Toole EA, Smith FJD.

    10/24/2020
    Work exposes a new pathway by which a desmosomal cadherin called Dsg1, which is lost early in head and neck cancer progression, suppresses cancer cell invadopodia formation by scaffolding ErbB2 Interacting Protein and consequent attenuation of EGF/Erk signaling.

    Desmoglein 1 Regulates Invadopodia by Suppressing EGFR/Erk Signaling in an Erbin-Dependent Manner.
    Valenzuela-Iglesias A, Burks HE, Arnette CR, Yalamanchili A, Nekrasova O, Godsel LM, Green KJ., Free PMC Article

    05/2/2020
    More than 20 genes have been reported to be associated with PPKs including desmoglein 1 (DSG1) a key molecular component for epidermal adhesion and differentiation. Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by transgrediens PPK, associated with mutations in the secreted LY6/PLAUR domain containing 1 (SLURP1) gene.

    Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
    Akbar A, Prince C, Payne C, Fasham J, Ahmad W, Baple EL, Crosby AH, Harlalka GV, Gul A., Free PMC Article

    12/7/2019
    These results demonstrate that signaling patterns parallel the clinical phenotype of pemphigus as some mechanisms involved in loss of cell cohesion are caused by antibodies targeting Dsg3 whereas others correlate with autoantibodies against Dsg1.

    Different signaling patterns contribute to loss of keratinocyte cohesion dependent on autoantibody profile in pemphigus.
    Walter E, Vielmuth F, Rotkopf L, Sárdy M, Horváth ON, Goebeler M, Schmidt E, Eming R, Hertl M, Spindler V, Waschke J., Free PMC Article

    06/8/2019
    Whole exome and direct sequencing were used to identify SAM syndrome-causing mutations. Consistent with previous data, SAM syndrome was found in all 3 patients to result from homozygous mutations in DSG1 predicted to result in premature termination of translation. In contrast, as compared with patients previously reported, the present cases were found to display a wide range of clinical presentations.

    SAM syndrome is characterized by extensive phenotypic heterogeneity.
    Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E.

    06/1/2019
    Here the authors identify a potential mechanism by which desmosomes assist the de-neddylating COP9 signalosome (CSN) in attenuating EGFR through an association between the Cops3 subunit of the CSN and desmosomal components, Desmoglein1 (Dsg1) and Desmoplakin (Dp), to promote epidermal differentiation.

    Epidermal Growth Factor Receptor neddylation is regulated by a desmosomal-COP9 (Constitutive Photomorphogenesis 9) signalosome complex.
    Najor NA, Fitz GN, Koetsier JL, Godsel LM, Albrecht LV, Harmon R, Green KJ., Free PMC Article

    06/23/2018
    Compared with immunocompetent patients, kidney transplant recipients systemically treated with calcineurin inhibitors and mycophenolate mofetil exhibited significantly reduced epidermal expression of Dsg1, a regulator of keratinocyte differentiation and barrier function.

    Epidermal Desmoglein 1 Expression Is Reduced in Kidney Transplant Recipients Compared with Immunocompetent Patients.
    Johnson JL, Hoover P, Jovanovic BD, Green KJ, Friedewald JJ, Robinson JK., Free PMC Article

    05/26/2018
    Study identified DSG1 to be involved in the progressive intestinal injury associated with the development of Crohn's Disease complications via its effect on intestinal cell adhesion.

    Serological Epithelial Component Proteins Identify Intestinal Complications in Crohn's Disease.
    Yau YY, Leong RWL, Pudipeddi A, Redmond D, Wasinger VC., Free PMC Article

    03/31/2018
    The authors report one recurrent and five novel DSG1 mutations, causing varying patterns of PPK, highlighting the clinical heterogeneity arising from mutations in this gene.

    Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
    Lovgren ML, McAleer MA, Irvine AD, Wilson NJ, Tavadia S, Schwartz ME, Cole C, Sandilands A, Smith FJD, Zamiri M., Free PMC Article

    03/31/2018
    Authors report a new family of severe dermatitis, multiple allergies and metabolic wasting syndrome of Asian decent and expand the spectrum of mutations in the DSG1 gene.

    Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.
    Cheng R, Yan M, Ni C, Zhang J, Li M, Yao Z.

    05/20/2017
    Case Report: striate palmoplantar keratoderma showing transgrediens in a patient with heterozygote nonsense mutations in DSG1 and SERPINB7.

    Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.
    Fukaura R, Takeichi T, Okuno Y, Kojima D, Kono M, Sugiura K, Suga Y, Akiyama M.

    03/25/2017
    Genetic deletion of sdrD in S. aureus NCTC8325-4 through allelic replacement resulted in decreased bacterial adherence to Dsg1- expressing HaCaT cells in vitro.

    The interaction between Staphylococcus aureus SdrD and desmoglein 1 is important for adhesion to host cells.
    Askarian F, Ajayi C, Hanssen AM, van Sorge NM, Pettersen I, Diep DB, Sollid JU, Johannessen M., Free PMC Article

    12/17/2016
    The results of this study describes the fourth family with a biallelic mutation in the DSG1 gene associated with SAM syndrome, and emphasizes that the presence of PPK and skin fragility with or without additional symptoms should alert clinicians to consider DSG1 deficiency.

    Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.
    Schlipf NA, Vahlquist A, Teigen N, Virtanen M, Dragomir A, Fismen S, Barenboim M, Manke T, Rösler B, Zimmer A, Fischer J.

    12/17/2016
    Desmoglein 1 mutation as cause of SAM syndrome

    [Homozygous desmoglein 1 gene mutations and severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome)].
    Dereure O.

    10/8/2016
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