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 *

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.