This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
26 citations
,
January 1992 in “Carcinogenesis” This study suggests that chronic treatment with TPA in mouse skin selectively expands a keratinocyte subpopulation hyperinducible for ODC, which may be a key target for neoplastic transformation.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.
September 2024 in “Genes” This study found that overexpressing CRABP1 in dermal papilla cells promotes their proliferation and influences key genes in the Wnt/β-catenin signaling pathway, which may offer insights into mechanisms controlling hair follicle development.
24 citations
,
May 2009 in “The FASEB Journal” This study found that Akt2 and SGK3 are crucial for postnatal hair follicle development in mice, as their combined absence led to severe hair growth defects due to disrupted β-catenin-dependent transcriptional processes.
1 citations
,
May 2025 in “Natural Products and Bioprospecting” In this study, PEVIII, a nanocomposite chitosan-coated vesicle containing both α-hederin and hederacoside C, demonstrated notable antibacterial activity against Pseudomonas aeruginosa in a keratitis model, showing significant lesion reduction, tissue improvement, and decreased bacterial load and inflammatory markers compared to other treatments.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
2 citations
,
October 2025 in “Antimicrobial Agents and Chemotherapy” This study found that cepharanthine may be a promising treatment for enterovirus infections, as it offered full protection to mice against lethal EV71 challenges and reduced viral titers and pathology.
6 citations
,
April 2005 in “Journal of dermatological science” This study identified the expression sites of five KAP5 genes on human chromosome 11q13.5 in scalp skin sections but did not explore their detailed distribution within hair follicles.
11 citations
,
January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
12 citations
,
August 2011 in “Asian-Australasian Journal of Animal Sciences” This study found that polymorphisms in the KAP8.1 gene were significantly associated with cashmere weight, length, and guard hair length in Chinese Inner Mongolian Cashmere goats, but not with fibre diameter.
24 citations
,
March 2016 in “Journal of Investigative Dermatology” This study suggests that TIP39 and its receptor PTH2R, identified in human epidermis, may play a role in keratinocyte function and influence skin differentiation.
June 2018 in “The Journal of Sexual Medicine” In this study, finasteride was found to significantly reduce DHT levels and affect spermatogenic markers in rats, while DA-9401 co-treatment indicated potential ameliorative effects.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
10 citations
,
April 1999 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that anthralin and sodium dodecyl sulfate accelerated hair growth in mice, potentially involving different skin protein kinase C isoform responses.
60 citations
,
December 1988 in “Journal of Biochemical Toxicology” In this study, TCDD administered to male rats down-regulated EGF receptor in liver plasma membranes and increased protein kinase activity, suggesting EGF receptor–mediated toxicological effects.
32 citations
,
December 2019 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that EGFR and MEK inhibitors may induce acneiform skin toxicities by interacting with the skin bacterium Cutibacterium acnes to increase IL-36γ and IL-8 production in keratinocytes.
92 citations
,
April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
January 2006 in “Chieh P'ou Hsueh Pao” In this study, the researchers observed that transfecting hair follicle cells with an amino-terminal truncated beta-catenin gene significantly increased cell proliferation, potentially by enhancing c-myc gene expression.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” 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.
January 2024 in “Doria (University of Helsinki)” This study found that in mouse pancreatic β-cells, the disruption of keratin filaments due to a specific mutation in keratin 18 resulted in altered GLUT2 localization, with less GLUT2 present on the plasma membrane compared to cells with normal keratin.
40 citations
,
July 2008 in “PROTEOMICS” This study introduced a bioengineered model that simulates acne's microenvironment in mice, enabling the exploration of host and P. acnes interactions and presenting a novel platform for anti-acne drug and vaccine screening.
14 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, targeted inactivation of the integrin-linked kinase gene in melanoblasts led to defects in cell migration, proliferation, and ability to populate the skin, implicating an integrin-linked kinase-Rac1 connection in melanocyte function.
4 citations
,
May 1998 in “PubMed” This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.
12 citations
,
June 2025 in “Gut Microbes” This study developed BroadAMP-GPT, a computational-experimental framework, to discover new antimicrobial peptides, identifying candidates effective against multidrug-resistant pathogens. Notably, AMP_S13 showed strong stability, low toxicity, and efficacy in infection models, highlighting the platform's potential in combating antimicrobial resistance.