166 related articles for article (PubMed ID: 24357266)
1. 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]
2. 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]
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 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]
6. 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]
7. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
Liao H; Sayers JM; Wilson NJ; Irvine AD; Mellerio JE; Baselga E; Bayliss SJ; Uliana V; Fimiani M; Lane EB; McLean WH; Leachman SA; Smith FJ
J Dermatol Sci; 2007 Dec; 48(3):199-205. PubMed ID: 17719747
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
