These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 19924139)

  • 21. Desmosomal genodermatoses.
    Petrof G; Mellerio JE; McGrath JA
    Br J Dermatol; 2012 Jan; 166(1):36-45. PubMed ID: 21929534
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function.
    Mohammed F; Odintsova E; Chidgey M
    Int J Mol Sci; 2022 Jan; 23(1):. PubMed ID: 35008956
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation.
    Erken H; Yariz KO; Duman D; Kaya CT; Sayin T; Heper AO; Tekin M
    Br J Dermatol; 2011 Oct; 165(4):917-21. PubMed ID: 21668431
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.
    Molho-Pessach V; Sheffer S; Siam R; Tams S; Siam I; Awwad R; Babay S; Golender J; Simanovsky N; Ramot Y; Zlotogorski A
    Pediatr Dermatol; 2015; 32(5):641-6. PubMed ID: 25824144
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
    Williams T; Machann W; Kühler L; Hamm H; Müller-Höcker J; Zimmer M; Ertl G; Ritter O; Beer M; Schönberger J
    Clin Res Cardiol; 2011 Dec; 100(12):1087-93. PubMed ID: 21789513
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.
    Protonotarios N; Tsatsopoulou A
    Cardiovasc Pathol; 2004; 13(4):185-94. PubMed ID: 15210133
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
    Cabral RM; Liu L; Hogan C; Dopping-Hepenstal PJ; Winik BC; Asial RA; Dobson R; Mein CA; Baselaga PA; Mellerio JE; Nanda A; Boente Mdel C; Kelsell DP; McGrath JA; South AP
    J Invest Dermatol; 2010 Jun; 130(6):1543-50. PubMed ID: 20130592
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.
    Polivka L; Bodemer C; Hadj-Rabia S
    J Med Genet; 2016 May; 53(5):289-95. PubMed ID: 26399581
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin.
    Tekin B; Yucelten D; Liu L; McGrath JA
    Australas J Dermatol; 2017 Feb; 58(1):e17-e19. PubMed ID: 26303123
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
    Norgett EE; Lucke TW; Bowers B; Munro CS; Leigh IM; Kelsell DP
    J Invest Dermatol; 2006 Jul; 126(7):1651-4. PubMed ID: 16628197
    [No Abstract]   [Full Text] [Related]  

  • 31. A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.
    Chalabreysse L; Senni F; Bruyère P; Aime B; Ollagnier C; Bozio A; Bouvagnet P
    J Dent Res; 2011 Jan; 90(1):58-64. PubMed ID: 20940358
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.
    Bolling MC; Veenstra MJ; Jonkman MF; Diercks GF; Curry CJ; Fisher J; Pas HH; Bruckner AL
    Br J Dermatol; 2010 Jun; 162(6):1388-94. PubMed ID: 20302578
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
    Rasmussen TB; Hansen J; Nissen PH; Palmfeldt J; Dalager S; Jensen UB; Kim WY; Heickendorff L; Mølgaard H; Jensen HK; Sørensen KE; Baandrup UT; Bross P; Mogensen J
    Clin Genet; 2013 Jul; 84(1):20-30. PubMed ID: 23137101
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.
    Irvine AD; McLean WH
    Br J Dermatol; 1999 May; 140(5):815-28. PubMed ID: 10354017
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
    Yang Z; Bowles NE; Scherer SE; Taylor MD; Kearney DL; Ge S; Nadvoretskiy VV; DeFreitas G; Carabello B; Brandon LI; Godsel LM; Green KJ; Saffitz JE; Li H; Danieli GA; Calkins H; Marcus F; Towbin JA
    Circ Res; 2006 Sep; 99(6):646-55. PubMed ID: 16917092
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis.
    Bitar F; Najjar T; Hayashi R; Nemer G; Shigehara Y; Hamie L; Abbas O; Kibbi AG; Shimomura Y; Kurban M
    J Eur Acad Dermatol Venereol; 2016 Dec; 30(12):e217-e219. PubMed ID: 26833927
    [No Abstract]   [Full Text] [Related]  

  • 37. 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
    Exp Dermatol; 2024 Mar; 33(3):e15046. PubMed ID: 38509711
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.
    Ou S; Cesarato N; Mauran P; Gellé MP; Thiele H; Betz RC; Viguier M; Gusdorf L
    Clin Exp Dermatol; 2022 Jul; 47(7):1424-1426. PubMed ID: 35574671
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family.
    Tosti A; Misciali C; Piraccini BA; Fanti PA; Barbareschi M; Ferretti RM
    Arch Dermatol; 1994 Apr; 130(4):522-4. PubMed ID: 8166494
    [No Abstract]   [Full Text] [Related]  

  • 40. Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.
    Patel DM; Dubash AD; Kreitzer G; Green KJ
    J Cell Biol; 2014 Sep; 206(6):779-97. PubMed ID: 25225338
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.