BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 12754508)

  • 1. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
    Levy-Nissenbaum E; Betz RC; Frydman M; Simon M; Lahat H; Bakhan T; Goldman B; Bygum A; Pierick M; Hillmer AM; Jonca N; Toribio J; Kruse R; Dewald G; Cichon S; Kubisch C; Guerrin M; Serre G; Nöthen MM; Pras E
    Nat Genet; 2003 Jun; 34(2):151-3. PubMed ID: 12754508
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.
    Dávalos NO; García-Vargas A; Pforr J; Dávalos IP; Picos-Cárdenas VJ; García-Cruz D; Kruse R; Figuera LE; Nöthen MM; Betz RC
    Br J Dermatol; 2005 Dec; 153(6):1216-9. PubMed ID: 16307662
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
    Caubet C; Bousset L; Clemmensen O; Sourigues Y; Bygum A; Chavanas S; Coudane F; Hsu CY; Betz RC; Melki R; Simon M; Serre G
    FASEB J; 2010 Sep; 24(9):3416-26. PubMed ID: 20448140
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.
    Jonca N; Leclerc EA; Caubet C; Simon M; Guerrin M; Serre G
    Eur J Dermatol; 2011 May; 21 Suppl 2():35-42. PubMed ID: 21628128
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene].
    Huang XS; Jiang HO; Quan QL
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Aug; 29(4):452-4. PubMed ID: 22875505
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
    Peled A; Samuelov L; Sarig O; Bochner R; Malki L; Pavlovsky M; Pichinuk E; Weil M; Sprecher E
    Br J Dermatol; 2020 Jul; 183(1):114-120. PubMed ID: 31746457
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction.
    Leclerc EA; Huchenq A; Mattiuzzo NR; Metzger D; Chambon P; Ghyselinck NB; Serre G; Jonca N; Guerrin M
    J Cell Sci; 2009 Aug; 122(Pt 15):2699-709. PubMed ID: 19596793
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
    van der Velden JJAJ; van Geel M; Engelhart JJ; Jonkman MF; Steijlen PM
    J Dermatol; 2020 Jan; 47(1):3-7. PubMed ID: 31663161
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
    Horev L; Tosti A; Rosen I; Hershko K; Vincenzi C; Nanova K; Mali A; Potikha T; Zlotogorski A
    J Am Acad Dermatol; 2009 Nov; 61(5):813-8. PubMed ID: 19766349
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family.
    Yang SX; Yin JH; Lin ZM; Wang HJ; Ren YL; Zhang J; Li RY; Yang Y
    Clin Exp Dermatol; 2014 Jan; 39(1):75-7. PubMed ID: 23746069
    [No Abstract]   [Full Text] [Related]  

  • 11. Hypotrichosis simplex of the scalp.
    Kanitakis J
    J Eur Acad Dermatol Venereol; 2007 Nov; 21(10):1450. PubMed ID: 17958879
    [No Abstract]   [Full Text] [Related]  

  • 12. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
    Tariq M; Ayub M; Jelani M; Basit S; Naz G; Wasif N; Raza SI; Naveed AK; ullah Khan S; Azeem Z; Yasinzai M; Wali A; Ali G; Chishti MS; Ahmad W
    Br J Dermatol; 2009 May; 160(5):1006-10. PubMed ID: 19292720
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
    Nahum S; Pasternack SM; Pforr J; Indelman M; Wollnik B; Bergman R; Nöthen MM; König A; Khamaysi Z; Betz RC; Sprecher E
    Arch Dermatol Res; 2009 Jun; 301(5):391-3. PubMed ID: 18820939
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.
    Mallet A; Kypriotou M; George K; Leclerc E; Rivero D; Mazereeuw-Hautier J; Serre G; Huber M; Jonca N; Hohl D
    Br J Dermatol; 2013 Dec; 169(6):1322-5. PubMed ID: 23957618
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
    Naz G; Khan B; Ali G; Azeem Z; Wali A; Ansar M; Ahmad W
    J Dermatol Sci; 2009 Apr; 54(1):12-6. PubMed ID: 19167195
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family.
    Huang H; Sun J; Fu L; Wu J; Guo H; Yang C; Zheng X; Tang H; Sun L; Zhang X
    Clin Exp Dermatol; 2018 Aug; 43(6):722-723. PubMed ID: 29797736
    [No Abstract]   [Full Text] [Related]  

  • 17. Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
    Pasternack SM; Murugusundram S; Eigelshoven S; Müller M; Kruse R; Lehmann P; Betz RC
    Arch Dermatol Res; 2009 Sep; 301(8):621-4. PubMed ID: 19529952
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A 4.2 kb upstream region of the human corneodesmosin gene directs site-specific expression in hair follicles and hyperkeratotic epidermis of transgenic mice.
    Gallinaro H; Jonca N; Langbein L; Vincent C; Simon M; Serre G; Guerrin M
    J Invest Dermatol; 2004 Mar; 122(3):730-8. PubMed ID: 15086560
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hereditary hypotrichosis of the scalp.
    Hess RO; Uno H
    Am J Med Genet; 1991 May; 39(2):125-9. PubMed ID: 2063912
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
    Ibsen HH; Clemmensen OJ; Brandrup F
    Acta Derm Venereol; 1991; 71(4):349-51. PubMed ID: 1681656
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.