about
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair textureNaegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutationGenotype-phenotype correlations among pachyonychia congenita patients with K16 mutationsIn vivo imaging of human and mouse skin with a handheld dual-axis confocal fluorescence microscope.First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosisPachyonychia congenita with laryngeal obstruction.Keratin gene mutations in disorders of human skin and its appendages.Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75.Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.Diseases of epidermal keratins and their linker proteinsOxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.Expression of keratins in cutaneous epithelial tumors and related disorders--distribution and clinical significance.Silencing human genetic diseases with oligonucleotide-based therapies.Stability study of unmodified siRNA and relevance to clinical use.SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita.The molecular genetic analysis of the expanding pachyonychia congenita case collection.Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2.Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.Novel KRT83 and KRT86 mutations associated with monilethrix.A new KRT16 mutation associated with a phenotype of pachyonychia congenita.Disorders of Keratinization
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
The genetic basis of pachyonychia congenita.
@ast
The genetic basis of pachyonychia congenita.
@en
type
label
The genetic basis of pachyonychia congenita.
@ast
The genetic basis of pachyonychia congenita.
@en
prefLabel
The genetic basis of pachyonychia congenita.
@ast
The genetic basis of pachyonychia congenita.
@en
P2093
P50
P1476
The genetic basis of pachyonychia congenita
@en
P2093
Arlene Stewart
Colin S Munro
Erik Björck
Faith Callif-Daley
Frances J D Smith
Haihui Liao
Iris Joval
Kevin J Hamill
Pamela Wood
Paul Collins
P356
10.1111/J.1087-0024.2005.10204.X
P577
2005-10-01T00:00:00Z
P5875
P6179
1046889227