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Quoted phrase not found in phrase index: "Pachyonychia congenita 1"
Page 1
Keratin 17 in disease pathogenesis: from cancer to dermatoses.
Yang L, Zhang S, Wang G. Yang L, et al. J Pathol. 2019 Feb;247(2):158-165. doi: 10.1002/path.5178. Epub 2018 Dec 7. J Pathol. 2019. PMID: 30306595 Review.
Moreover, genetic mutation in KRT17 is related to tissue-specific diseases, represented by steatocystoma multiplex and pachyonychia congenita. In this review, we summarize our findings concerning the regulatory mechanisms of K17 overexpression in psoriasis and compa …
Moreover, genetic mutation in KRT17 is related to tissue-specific diseases, represented by steatocystoma multiplex and pachyonychia …
Management of Plantar Keratodermas(Lessons from Pachyonychia Congenita).
Porter RM, Bravo AA, Smith FJD. Porter RM, et al. J Am Podiatr Med Assoc. 2017 Sep;107(5):428-435. doi: 10.7547/16-043. J Am Podiatr Med Assoc. 2017. PMID: 29077501 Review.
This review focuses on the rare autosomal dominant keratin disorder pachyonychia congenita, which presents with particularly painful plantar keratoderma for which there is no specific treatment. ...This finding has stimulated a drive for alternative treatment option …
This review focuses on the rare autosomal dominant keratin disorder pachyonychia congenita, which presents with particularly p …
Revisiting pachyonychia congenita: a case-cohort study of 815 patients.
Samuelov L, Smith FJD, Hansen CD, Sprecher E. Samuelov L, et al. Br J Dermatol. 2020 Mar;182(3):738-746. doi: 10.1111/bjd.18794. Epub 2020 Jan 14. Br J Dermatol. 2020. PMID: 31823354
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17). ...Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by …
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin …
Pachyonychia congenita in pediatric patients: natural history, features, and impact.
Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS. Shah S, et al. JAMA Dermatol. 2014 Feb;150(2):146-53. doi: 10.1001/jamadermatol.2013.6448. JAMA Dermatol. 2014. PMID: 24132595
IMPORTANCE Nail dystrophy in early childhood often suggests a diagnosis of pachyonychia congenita (PC). No previous investigation has focused on the early signs of PC and the natural course of the disease. ...EXPOSURE Individuals with pachyonychia c …
IMPORTANCE Nail dystrophy in early childhood often suggests a diagnosis of pachyonychia congenita (PC). No previous investigat …
Mouse models in preclinical studies for pachyonychia congenita.
Chen J, Roop DR. Chen J, et al. J Investig Dermatol Symp Proc. 2005 Oct;10(1):37-46. doi: 10.1111/j.1087-0024.2005.10206.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250208 Free article. Review.
The similarities between the human and mouse genomes often allow researchers to make accurate predictions about the roles of their human counterparts. Because of the similar physiology between these two mammals, mice are used extensively in the laboratory to investigate th …
The similarities between the human and mouse genomes often allow researchers to make accurate predictions about the roles of their hu …
Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise.
Chamcheu JC, Wood GS, Siddiqui IA, Syed DN, Adhami VM, Teng JM, Mukhtar H. Chamcheu JC, et al. Exp Dermatol. 2012 Jul;21(7):481-9. doi: 10.1111/j.1600-0625.2012.01534.x. Exp Dermatol. 2012. PMID: 22716242 Free PMC article. Review.
Typically, these mutations in concert with characteristic features have formed the basis for improved disease diagnosis, prognosis and most recently therapy development. Examples include epidermolysis bullosa simplex, keratinopathic ichthyosis, pachyonychia conge …
Typically, these mutations in concert with characteristic features have formed the basis for improved disease diagnosis, prognosis an …
Keratin gene mutations in disorders of human skin and its appendages.
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Chamcheu JC, et al. Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. doi: 10.1016/j.abb.2010.12.019. Epub 2010 Dec 19. Arch Biochem Biophys. 2011. PMID: 21176769 Free PMC article. Review.
The identification of specific pathogenic mutations in keratin disorders formed the basis of our understanding that led to re-classification, improved diagnosis with prognostic implications, prenatal testing and genetic counseling in severe keratin genodermatoses. ...Examp …
The identification of specific pathogenic mutations in keratin disorders formed the basis of our understanding that led to re-classification …
Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
Forrest CE, Casey G, Mordaunt DA, Thompson EM, Gordon L. Forrest CE, et al. Pediatr Dermatol. 2016 May;33(3):337-42. doi: 10.1111/pde.12841. Epub 2016 Apr 4. Pediatr Dermatol. 2016. PMID: 27041546 Review.
BACKGROUND: Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five diff …
BACKGROUND: Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dyst …
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. Samuelov L, et al. Clin Exp Dermatol. 2021 Jul;46(5):867-873. doi: 10.1111/ced.14569. Epub 2021 Mar 17. Clin Exp Dermatol. 2021. PMID: 33486795
BACKGROUND: Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin genes (KRT16,KRT6A,KRT17,KRT6B or KRT6C). Current disease classification is based on the gene harbouring disease-causing variants. AIMS: We …
BACKGROUND: Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin …
Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.
McLean WH, Smith FJ, Cassidy AJ. McLean WH, et al. J Investig Dermatol Symp Proc. 2005 Oct;10(1):31-6. doi: 10.1111/j.1087-0024.2005.10205.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250207 Free article. Review.
The Human Genome Project has uncovered a total of 54 functional keratin genes that are differentially expressed in specific epithelial structures of the body, many of which involve the epidermis and its appendages. Pachyonychia congenita (PC) is a group of autosomal …
The Human Genome Project has uncovered a total of 54 functional keratin genes that are differentially expressed in specific epithelial struc …
21 results