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 *

120 related articles for article (PubMed ID: 38978313)

  • 1. Pachyonychia congenita: A father and son with a novel variant in the KRT16 gene.
    Tran TNA; Vu TTP; Pham NN; Bui CB; Nguyen HT
    Pediatr Dermatol; 2024 Jul; ():. PubMed ID: 38978313
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel heterozygous frameshift mutation in the
    Liang J; Li R; Liu C; Cai Y; Liu Y; Chen P; Zeng K; Li C
    Heliyon; 2024 Mar; 10(5):e27195. PubMed ID: 38468954
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?
    Gönül M; Gül Ü; Kılıç A; Soylu S; Koçak O; Demiriz M
    Int J Dermatol; 2015 Mar; 54(3):334-7. PubMed ID: 25713981
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 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 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]  

  • 9. Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.
    Lessard JC; Coulombe PA
    J Invest Dermatol; 2012 May; 132(5):1384-91. PubMed ID: 22336941
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pachyonychia congenita with late onset (PC tarda).
    Sravanthi A; Srivalli P; Gopal KV; Rao TN
    Indian Dermatol Online J; 2016; 7(4):278-80. PubMed ID: 27559502
    [TBL] [Abstract][Full Text] [Related]  

  • 11. First case of pachyonychia congenita in the Czech Republic.
    Jiráková A; Rajská L; Rob F; Džambová M; Sečníková Z; Göpfertová D; Schwartz M; Smith F; Lotti T; Hercogová J
    Dermatol Ther; 2015; 28(1):10-2. PubMed ID: 25174302
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.
    Goldberg I; Mashiah J; Kutz A; Derowe A; Warshauer E; Schwartz ME; Smith F; Sprecher E; Hansen CD
    Br J Dermatol; 2020 Mar; 182(3):708-713. PubMed ID: 31777952
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
    Agarwala M; Salphale P; Peter D; Wilson NJ; Pulimood S; Schwartz ME; Smith FJD
    Indian J Dermatol; 2017; 62(4):422-426. PubMed ID: 28794556
    [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. Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report.
    Morais P; Peralta L; Loureiro M; Coelho S
    Acta Dermatovenerol Croat; 2013; 21(1):48-51. PubMed ID: 23683487
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.