research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
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420-450 / 1000+ resultsresearch Subject Index, Vol. 7,1994
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
research Novel small molecules downregulate CDK1 expression and inhibit Wnt/β-catenin signaling in cutaneous squamous cell carcinoma by targeting its distinct tumor-specific cellular landscape
This study observed that the small molecules KY19382 and KY19334 inhibited cancerous traits in human cutaneous squamous cell carcinoma cells by suppressing the Wnt/β-catenin pathway, indicating their potential as treatments for cancers involving CDK1 overexpression and diseases related to CXXC5 accumulation.
research Engineered Bilayer Hydrogel with Spatiotemporal Drug and Oxygen Delivery for Diabetic Wound Microenvironment Reprogramming
In this study, researchers developed a responsive bilayer hydrogel for diabetic wounds that delivers drugs and oxygen in sync with healing stages, achieving a 99.1% wound closure rate in 14 days by integrating anti-inflammatory, antibacterial, and anti-fouling functions.
research Ginsenoside Rb1 promotes the growth of mink hair follicle via PI3K/AKT/GSK-3β signaling pathway
This study found that ginsenoside Rb1 promoted the growth of mink hair follicles and dermal papilla cells, potentially through activating the PI3K/AKT/GSK-3β signaling pathway.
research Interleukin 6: insights to its function in skin by overexpression in transgenic mice.
In this study, IL-6 expression in transgenic mice thickened the stratum corneum without causing increased epidermal proliferation or inflammation, suggesting it may enhance skin protection rather than directly induce inflammation.
research Protein kinase Akt2/PKBβ is involved in blastomere proliferation of preimplantation mouse embryos
In this study, Akt2 and the oncogenic protein Tcl1 were found to be essential for early blastomere proliferation and embryo development in preimplantation mouse embryos.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Presentation1_BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis.pdf
This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
research Expert system practice of students majoring in Korean medicine and their responses to the future AI Era
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
research Investigation of drug partition property in artificial sebum
This study found that the sebum partition coefficient (K(sebum)) for some drugs differs from the stratum corneum partition coefficient (K(sc)), indicating its importance for targeted drug delivery into hair and sebaceous follicles.
research Wool fiber curvature is correlated with abundance of K38 and specific keratin‐associated proteins
This study found that straight crimp mutant wool differs from crimpy wool in the layout of cortical cells and the relative proportions of keratin and keratin-associated proteins.
research hKAP1.6 and hKAP1.7, Two Novel Human High Sulfur Keratin-Associated Proteins are Expressed in the Hair Follicle Cortex
In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
research MiRNA-24 downregulates KLF6 affecting STAT3 protein expression and phosphorylation regulating melanogenesis in cashmere goat coat
This study found that miRNA-24 downregulates the KLF6 gene, influencing coat color by affecting melanogenesis pathways in Cashmere goats, and that miRNA-24 inhibition increased melanin content in mice.
research Emerging roles of Sox6 in the renal and cardiovascular system
This review discusses emerging research on the transcription factor Sox6 and its roles in cardiovascular and kidney function, highlighting its involvement in diseases such as cardiomyopathy and diabetes; it reports no new experimental findings.
research Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family
In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
research VINCENT BARRANCO, M.D., EDITOR 2121 EAST 21ST STREET, P.O. BOX 52588 TUESA, OK 74152-0588.
This article offers a summary of the Seoul International Dermatology Symposium held in May 1995, but reports no new clinical findings.
research The effects of sonic, desert and Indian hedgehog signalling in skin
This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.
research P7 p63, K14 and p53 expression in epithelial layers of tumor-distant oral mucosa in patients with oral squamous cell carcinoma
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
research 972 The ATP-dependent chromatin remodeler BRG1 controls epidermal keratinocytes migration during human cutaneous wound healing
This study found that BRG1 is crucial for keratinocyte migration during skin wound healing, as its suppression impairs wound closure by inhibiting migration without affecting cell proliferation or apoptosis.
research Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
research Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus
This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.
research The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?
This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.
research Vogt-Koyanagi-Harada disease occurring during pegylated interferon-α2b and ribavirin combination therapy for chronic hepatitis C
This case report details an occurrence of Vogt-Koyanagi-Harada disease during pegylated interferon-α2b and ribavirin therapy for chronic hepatitis C.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Reviewer #1 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.