47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
September 2023 in “Nature communications” This study found that VE-cadherin and Alk1, traditionally linked to vascular functions, also play crucial roles in maintaining nerve homeostasis in mice during hair growth cycles by modulating certain cell populations.
26 citations
,
July 2007 in “Biochemical Pharmacology” This study found that phenyl-imidazole sulfonamide derivatives, particularly ISCK03, inhibited c-kit signaling and promoted depigmentation in various experimental settings, suggesting potential use as skin-whitening agents.
2 citations
,
February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
June 2023 in “Journal of Clinical Oncology” This study found that alopecia induced by CDK4/6 inhibitors in breast cancer patients occurs more quickly and is more resistant to minoxidil treatment compared to endocrine therapy-induced alopecia.
21 citations
,
January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
35 citations
,
June 2012 in “PloS one” This study suggests that Keratin 15 expression in stratified epithelia may be regulated by two distinct mechanisms involving PKC/AP-1 pathway for differentiation and FOXM1 for basal cells, challenging its reliability as a sole stem cell marker.
5 citations
,
January 2021 in “iScience” Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
37 citations
,
August 2024 in “Current Issues in Molecular Biology” This review summarizes recent findings on keratins 6, 16, and 17, highlighting their role in keratinocyte behavior and nuclear functions, and discusses their potential as biomarkers for various skin pathologies, including damage, inflammation, and cancer, rather than in healthy skin.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
2 citations
,
May 2019 in “Small ruminant research” This study identified polymorphisms in HGT-KRTAP7-1 and KRTAP8-1 genes in Argentine llamas that may impact fiber characteristics by altering amino acid residues critical for keratin-associated protein properties.
1 citations
,
January 2022 in “Cell Biology International” This study found that altering cyclin-dependent kinase 4 (CDK4) levels in the bulge region of hair follicles affects the balance of stem cell numbers, potentially influencing hair follicle self-renewal and proliferation.
38 citations
,
February 1988 in “Molecular and Cellular Biology” This study found that among the two highly homologous K16 genes on chromosome 17, only one produced a functional protein due to stronger promoter activity.
33 citations
,
August 2008 in “American Journal Of Pathology” This study found that K6a expression in mouse sebaceous gland ducts correlates with Hedgehog signaling, suggesting a role in duct fate.
40 citations
,
December 2012 in “PLoS ONE” This study found that selective deletion of Ctip2 in epidermal keratinocytes in adult mice leads to atopic dermatitis-like inflammation and suggests Ctip2 plays a crucial role in skin barrier maintenance and inflammatory regulation.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
April 2010 in “Cancer Research” This study found that altering CDK4 expression in mice affects the population of keratinocyte stem cells, suggesting a correlation with susceptibility to skin papillomas.
1 citations
,
August 2015 in “Experimental Dermatology” This review discusses the roles of KIT and mast cells in skin physiology and pathology using different genetic models and reports no new clinical results; the authors suggest further exploration of KIT deficiency.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” 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.
2 citations
,
April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
8 citations
,
January 2013 in “genesis” This study identified a new transcriptional repressor, Zfp157, as a target of Stat6 in the mammary gland, expressing in various tissues during mouse embryogenesis and adulthood.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
52 citations
,
May 2006 in “Journal of Structural Biology” This study identified two key pentapeptide quasi-repeats in human keratin-associated proteins, which are similar to motifs found in sheep wool.
2 citations
,
April 2022 in “Research Square (Research Square)” This study found that activating PKM2 and Wnt/β-catenin signaling enhanced hair regrowth and hair follicle stem cell proliferation in mice, suggesting a potential alopecia treatment strategy.
March 2024 in “International journal of molecular sciences” In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.
January 2013 in “Heilongjiang xumu shouyi” This study successfully cloned the KAP6.1 gene from Xinjiang fine-wool sheep and found its genetic sequence has high homology with sheep and goat sequences, indicating close genetic relationships.
13 citations
,
March 1997 in “Research in Veterinary Science/Research in veterinary science” This study found that epithelial keratin K 6 is associated with hyperkeratotic and ulcerated changes in the gastric pars oesophagea of pigs, suggesting epithelial proliferation plays a role in ulcer development.
September 2024 in “Journal of the American Academy of Dermatology” In this study, DataDerm revealed that from 2016 to 2022, a majority of patients diagnosed with keratinocyte carcinoma were male, predominantly white, and commonly between 56-75 years old, with most living in urban areas and having a history of non-melanoma skin cancer.