| Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes. | Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.
Andrei D, Bremer J, Kramer D, Nijenhuis AM, van der Molen M, Diercks GFH, van den Akker PC, Vermeer MCSC, van der Meer P, Bolling MC. | 03/25/2024 |
| Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. | Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, van den Berg MP, Bootsma M, Bosman LP, Correnti G, Duflou J, Eppinga RN, Fatkin D, Fietz M, Haan E, Jongbloed JDH, Hauer AD, Lam L, van Lint FHM, Lota A, Marcelis C, McCarthy HJ, van Mil AM, Oldenburg RA, Pachter N, Planken RN, Reuter C, Semsarian C, van der Smagt JJ, Thompson T, Vohra J, Volders PGA, van Waning JI, Whiffin N, van den Wijngaard A, Amin AS, Wilde AAM, van Woerden G, Yeates L, Zentner D, Ashley EA, Wheeler MT, Ware JS, van Tintelen JP, Ingles J., Free PMC Article | 02/27/2023 |
| DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. | DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.
Di Lorenzo F, Marchionni E, Ferradini V, Latini A, Pezzoli L, Martino A, Romeo F, Iorio A, Bianchi S, Iascone M, Calò L, Novelli G, Mango R, Sangiuolo F., Free PMC Article | 02/16/2023 |
| Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of MUC5B and DSP in Idiopathic Pulmonary Fibrosis. | Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of MUC5B and DSP in Idiopathic Pulmonary Fibrosis.
Borie R, Cardwell J, Konigsberg IR, Moore CM, Zhang W, Sasse SK, Gally F, Dobrinskikh E, Walts A, Powers J, Brancato J, Rojas M, Wolters PJ, Brown KK, Blackwell TS, Nakanishi T, Richards JB, Gerber AN, Fingerlin TE, Sachs N, Pulit SL, Zappala Z, Schwartz DA, Yang IV., Free PMC Article | 11/26/2022 |
| Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. | Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.
Elfatih A, Da'as SI, Abdelrahman D, Mbarek H, Mohammed I, Hasan W, Fakhro KA, The Qatar Genome Program Research Consortium, Estivill X, Mifsud B., Free PMC Article | 09/3/2022 |
| Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy. | Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy.
Bariani R, Cason M, Rigato I, Cipriani A, Celeghin R, De Gaspari M, Bueno Marinas M, Mattesi G, Pergola V, Rizzo S, Zorzi A, Giorgi B, Rampazzo A, Thiene G, Iliceto S, Perazzolo Marra M, Corrado D, Basso C, Pilichou K, Bauce B. | 07/30/2022 |
| A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign. | A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Karvonen V, Harjama L, Heliö K, Kettunen K, Elomaa O, Koskenvuo JW, Kere J, Weckström S, Holmström M, Saarela J, Ranki A, Heliö T, Hannula-Jouppi K., Free PMC Article | 07/23/2022 |
| Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function. | Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function.
Mohammed F, Odintsova E, Chidgey M., Free PMC Article | 02/12/2022 |
| Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis. | Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.
Shoda T, Kaufman KM, Wen T, Caldwell JM, Osswald GA, Purnima P, Zimmermann N, Collins MH, Rehn K, Foote H, Eby MD, Zhang W, Ben-Baruch Morgenstern N, Ballaban AY, Habel JE, Kottyan LC, Abonia JP, Mukkada VA, Putnam PE, Martin LJ, Rothenberg ME., Free PMC Article | 12/25/2021 |
| Cardiocutaneous Features of Autosomal Dominant Desmoplakin-Associated Arrhythmogenic Cardiomyopathy. | Cardiocutaneous Features of Autosomal Dominant Desmoplakin-Associated Arrhythmogenic Cardiomyopathy.
Hylind R, Beauséjour-Ladouceur V, Plovanich ME, Helms A, Smith E, Joyce E, Granter S, Stevenson LW, Cirino AL, McDonough BA, Mostaghimi A, Abrams DJ, Lakdawala NK. | 10/30/2021 |
| Wilms' tumour 1-associating protein inhibits endothelial cell angiogenesis by m6A-dependent epigenetic silencing of desmoplakin in brain arteriovenous malformation. | Wilms' tumour 1-associating protein inhibits endothelial cell angiogenesis by m6A-dependent epigenetic silencing of desmoplakin in brain arteriovenous malformation.
Wang LJ, Xue Y, Li H, Huo R, Yan Z, Wang J, Xu H, Wang J, Cao Y, Zhao JZ., Free PMC Article | 10/2/2021 |
| Steroid hormones and human choriogonadotropin influence the distribution of alpha6-integrin and desmoplakin 1 in gland-like endometrial epithelial spheroids. | Steroid hormones and human choriogonadotropin influence the distribution of alpha6-integrin and desmoplakin 1 in gland-like endometrial epithelial spheroids.
Buck VU, Kohlen MT, Sternberg AK, Rösing B, Neulen J, Leube RE, Classen-Linke I., Free PMC Article | 09/4/2021 |
| Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy. | Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS., Free PMC Article | 08/28/2021 |
| Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study. | Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study.
Kawasaki A, Namba N, Sada KE, Hirano F, Kobayashi S, Nagasaka K, Sugihara T, Ono N, Fujimoto T, Kusaoi M, Tamura N, Yamagata K, Sumida T, Hashimoto H, Ozaki S, Makino H, Arimura Y, Harigai M, Tsuchiya N., Free PMC Article | 07/24/2021 |
| Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review. | Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.
Grondin S, Wazirian AC, Jorda P, Terrone DG, Gagnon J, Robb L, Amyot J, Rivard L, Pagé S, Talajic M, Cadrin-Tourigny J, Tadros R. | 06/5/2021 |
| Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene. | Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.
Poller W, Haas J, Klingel K, Kühnisch J, Gast M, Kaya Z, Escher F, Kayvanpour E, Degener F, Opgen-Rhein B, Berger F, Mochmann HC, Skurk C, Heidecker B, Schultheiss HP, Monserrat L, Meder B, Landmesser U, Klaassen S., Free PMC Article | 05/15/2021 |
| Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg. | Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg.
Khudiakov A, Perepelina K, Klauzen P, Zlotina A, Gusev K, Kaznacheyeva E, Malashicheva A, Kostareva A. | 01/23/2021 |
| Impact of the DSP-H1684R Genetic Variant on Ion Channels Activity in iPSC-Derived Cardiomyocytes. | Impact of the DSP-H1684R Genetic Variant on Ion Channels Activity in iPSC-Derived Cardiomyocytes.
Gusev K, Khudiakov A, Zaytseva A, Perepelina K, Makeenok S, Kaznacheyeva E, Kostareva A. | 01/16/2021 |
| Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy. | Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.
Lin X, Ma Y, Cai Z, Wang Q, Wang L, Huo Z, Hu D, Wang J, Xiang M., Free PMC Article | 10/3/2020 |
| Study in six arrhythmogenic cardiomyopathy pedigrees with 38 carriers with mutations affecting both major DSP isoforms (DSPI and II) revealed that all carriers were observed to have curly or wavy hair in the pedigrees examined, except for members of Family 6, where the position of the mutation only affected the cardiac-specific isoform DSPI . A mild palmoplantar keratoderma was also present in many carriers. | Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ, Kelsell DP., Free PMC Article | 08/1/2020 |
| The study identified desmoplakin as a novel potential telomere binding protein and highlighted its role in protecting against telomere DNA damage and resultant cell apoptosis. | Nuclear localization of Desmoplakin and its involvement in telomere maintenance.
Li P, Meng Y, Wang Y, Li J, Lam M, Wang L, Di LJ., Free PMC Article | 05/9/2020 |
| p38 MAPK activity is elevated in desmoplakin (DP)-deficient A431 cells, and abrogation of p38 MAPK signaling rescues enhanced migration and altered cytoskeletal morphology in DP knockdown cells. Knockdown of p38alpha MAPK was able to rescue the elevated Rac activity seen in DP knockdown cells alone indicating that DP-mediated regulation of p38 MAPK is upstream of Rac activity, actin cytoskeletal, and cell migratory cha... | Desmoplakin Harnesses Rho GTPase and p38 Mitogen-Activated Protein Kinase Signaling to Coordinate Cellular Migration.
Bendrick JL, Eldredge LA, Williams EI, Haight NB, Dubash AD., Free PMC Article | 05/9/2020 |
| This study also demonstrates relatively low penetrance of truncating DSP variant in the probands' family members by the age of 40. Further studies are needed to elucidate the possible relations between myocardial inflammation and pathogenic DSP variants. | DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.
Heliö K, Kangas-Kontio T, Weckström S, Vanninen SUM, Aalto-Setälä K, Alastalo TP, Myllykangas S, Heliö TM, Koskenvuo JW., Free PMC Article | 03/7/2020 |
| Case study of a Carvajal syndrome associated with generalized pustular eruptions and review of previously reported cases suggest that mutations in SR6 region of desmoplakin with proline substitution render individuals at risk of developing pustular psoriasiform rash. | Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction.
Tayeh C, Al-Hage J, Bitar F, Nemer G, Abbas O, Kurban M. | 12/14/2019 |
| Study indicates that an improperly folded desmoplakin (DSP) plakin repeat domain 2/B diminishes the interaction of DSP with epidermal keratins and desmin that probably leads to cutaneous and cardiac defects, respectively. | A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin.
Favre B, Begré N, Borradori L. | 11/30/2019 |