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 *

158 related articles for article (PubMed ID: 30859684)

  • 1. A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.
    Xu Q; Zhang Q; Tang L; Jin L; Wang X; Kan L; Zheng X; Yang S
    J Cosmet Dermatol; 2019 Dec; 18(6):1930-1934. PubMed ID: 30859684
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.
    Du ZF; Xu CM; Zhao Y; Liu WT; Chen XL; Chen CY; Fang H; Ke HP; Zhang XN
    Eur J Dermatol; 2012; 22(4):476-80. PubMed ID: 22668561
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.
    Dai L; Wu J; Guo H; Huang Y; Zhang K; Liu D; Fu L; Wu Y; Guan X; Bai Y; Liao Q
    Eur J Pediatr; 2014 Jun; 173(6):737-41. PubMed ID: 24357266
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The molecular genetic analysis of the expanding pachyonychia congenita case collection.
    Wilson NJ; O'Toole EA; Milstone LM; Hansen CD; Shepherd AA; Al-Asadi E; Schwartz ME; McLean WH; Sprecher E; Smith FJ
    Br J Dermatol; 2014 Aug; 171(2):343-55. PubMed ID: 24611874
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.
    Spaunhurst KM; Hogendorf AM; Smith FJ; Lingala B; Schwartz ME; Cywinska-Bernas A; Zeman KJ; Tang JY
    Br J Dermatol; 2012 Apr; 166(4):875-8. PubMed ID: 22098151
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new KRT16 mutation associated with a phenotype of pachyonychia congenita.
    Paris F; Hurtado C; Azón A; Aguado L; Vizmanos JL
    Exp Dermatol; 2013 Dec; 22(12):838-9. PubMed ID: 24118415
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation p.Arg127Pro in the 1A Domain of KRT16 Causes Pachyonychia Congenita in Chinese Patient: A Case Report of PC Associated with Acral Melanoma.
    Ge WW; Chen ZM; Chou MW; Ismail F; Chen G; Wu LM; Yang JQ
    Clin Cosmet Investig Dermatol; 2024; 17():1111-1116. PubMed ID: 38770089
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A large mutational study in pachyonychia congenita.
    Wilson NJ; Leachman SA; Hansen CD; McMullan AC; Milstone LM; Schwartz ME; McLean WH; Hull PR; Smith FJ
    J Invest Dermatol; 2011 May; 131(5):1018-24. PubMed ID: 21326300
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita.
    Gong L; Guo S; Wang D; Wang T; Ren X; Yuan Y; Cui H
    Int J Gen Med; 2021; 14():903-907. PubMed ID: 33762842
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.
    Zieman AG; Coulombe PA
    Br J Dermatol; 2020 Mar; 182(3):564-573. PubMed ID: 31021398
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
    Li Y; Wang Y; Ming Y; Chaolan P; Jia Z; Cheng N; Qiaoyu C; Li M; Tianyi X
    BMC Med Genomics; 2021 Nov; 14(1):259. PubMed ID: 34724947
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of clinically useful predictive genetic variants in pachyonychia congenita.
    Samuelov L; Sarig O; Adir N; Pavlovsky M; Smith FJ; Schwartz J; Hansen CD; Sprecher E
    Clin Exp Dermatol; 2021 Jul; 46(5):867-873. PubMed ID: 33486795
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.
    Liu J; Zhong W; Yu B; Lin Z; Zheng Y; Hu X
    Pediatr Dermatol; 2020 Sep; 37(5):974-976. PubMed ID: 32662074
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Revisiting pachyonychia congenita: a case-cohort study of 815 patients.
    Samuelov L; Smith FJD; Hansen CD; Sprecher E
    Br J Dermatol; 2020 Mar; 182(3):738-746. PubMed ID: 31823354
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I].
    Bai ZL; Feng YG; Tan SS; Kang RH; Wang XY; He DL
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):514-7. PubMed ID: 19806570
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.
    Gruber R; Wilson NJ; Smith FJ; Grabher D; Steinwender L; Fritsch PO; Schmuth M
    Br J Dermatol; 2009 Dec; 161(6):1391-5. PubMed ID: 19785597
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular epidemiology of pachyonychia congenita in the Israeli population.
    Pavlovsky M; Peled A; Samuelov L; Malki L; Malovitski K; Assaf S; Mohamad J; Meijers O; Eskin-Schwartz M; Sarig O; Sprecher E
    Clin Exp Dermatol; 2021 Jun; 46(4):663-668. PubMed ID: 33190296
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
    Fu T; Leachman SA; Wilson NJ; Smith FJ; Schwartz ME; Tang JY
    J Invest Dermatol; 2011 May; 131(5):1025-8. PubMed ID: 21160496
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.
    Abdollahimajd F; Rajabi F; Shahidi-Dadras M; Saket S; Youssefian L; Vahidnezhad H; Uitto J
    Br J Dermatol; 2019 Sep; 181(3):584-586. PubMed ID: 30307612
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.
    Bai ZL; Feng YG; Tan SS; Wang XY; Xiao SX; Wang H; Jia HQ; Wu JW; He DL; Kang RH
    Br J Dermatol; 2008 Jul; 159(1):238-40. PubMed ID: 18489596
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.