22 citations
,
October 1996 in “Dermatologic clinics” This review summarizes recent advances in understanding intermediate filament structure and their implications for pathological mutations and human diseases, but it reports no new experimental results.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
10 citations
,
July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study found that the expression of LRIG1 in Merkel cell carcinoma tumors was associated with improved overall and cancer-specific survival.
2 citations
,
June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
38 citations
,
July 1993 in “Journal of Investigative Dermatology”
August 2025 in “Journal of Investigative Dermatology” Elevated luteinizing hormone contributes to female-pattern hair loss, and blocking certain channels may help prevent it.
12 citations
,
March 2004 in “Journal of Investigative Dermatology”
2 citations
,
June 2024 in “Frontiers in Plant Science” This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.
1 citations
,
December 2021 in “Tropical Journal of Pharmaceutical Research” This study concluded that adding Kanglaite injection to gemcitabine and cisplatin chemotherapy for advanced non-small cell lung cancer improved response rates and reduced adverse side effects.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
2 citations
,
November 2022 in “Acta crystallographica. Section B, Structural science, crystal engineering and materials./Acta crystallographica. Section B, Structural science, crystal engineering and materials” This study reports the synthesis and structural characterization of a novel dinuclear platinum(III) complex with potential antitumor and catalytic activity.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that Dlx3 plays a crucial role in regulating chromatin accessibility and gene transcription during keratinocyte differentiation in the epidermis, highlighting its potential impact on epidermal barrier formation and differentiation.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
1 citations
,
January 2023 in “Biochemical and biophysical research communications” This study found that hepatic KRT79 expression is regulated by PPARA and is significantly associated with liver stress, suggesting it may serve as a diagnostic marker for liver diseases.
29 citations
,
June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
June 2026 in “Experimental Dermatology” This review explores the roles of laminin-332 in skin function, highlighting its involvement in epidermal cohesion, stem cell maintenance, wound healing, and potential in genetic therapies for junctional epidermolysis bullosa.
This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.
53 citations
,
October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
May 2025 in “Journal of Developmental Biology” This study reports that KRTAP-like proteins, which resemble keratin-associated proteins found in mammals, are also present in the cornified teeth of various lamprey species, suggesting these proteins may serve similar functions in skin appendages across different vertebrates despite independent evolutionary origins.
January 2021 in “Skin Appendage Disorders” 101 citations
,
June 2003 in “The EMBO Journal” Phospholipase Cδ1 is crucial for normal skin and hair development.
60 citations
,
December 2003 in “Journal of Investigative Dermatology” This study found that keratin 6hf, a type II keratin, is expressed in specific regions of mouse and human hair and suggests potential interactions with keratin 17, impacting hair development and associated disorders.
38 citations
,
October 2001 in “British Journal of Dermatology” This study identified a new keratin, K6irs, as a potential histological marker for the inner root sheath of hair follicles in mice and humans, and as a candidate gene for hereditary hair defects.
36 citations
,
March 2009 in “Molecular Carcinogenesis” This study found that Bcl-xL deficiency in mice increased apoptosis and resistance to skin tumor development, highlighting Bcl-xL's role in early skin carcinogenesis through anti-apoptotic functions.
September 2023 in “UCrea (University of Cantabria)” In this study, researchers found that mouse digits without nails could not regenerate after amputation, highlighting the necessity of nails for fingertip regeneration and suggesting a potential role for the Lmx1b gene in this process.
In this study, low-level light therapy increased the proliferation and activation of dermal papilla cells, which in turn may enhance the growth of outer root sheath keratinocytes, suggesting potential mechanisms for improving hair follicle interaction.
19 citations
,
February 2016 in “Journal of Biological Chemistry” In this study, researchers observed that knocking out KCNQ3 in mice increased firing frequencies in response to stimuli, particularly at slow mechanical indentation velocities, indicating a role in mechanosensory neuron sensitivity.
August 2019 in “Research Square (Research Square)” This study explored how long non-coding RNA mediates the effects of FGF5 on the hair follicle development and villus growth of Liaoning cashmere goats.
October 2014 in “Journal of the Portuguese Society of Dermatology and Venereology” This paper presents a therapeutic approach with excellent results in a case of lichen planopilaris overlapping with dermatomyositis and scleroderma, although broader applicability is not discussed.