April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
21 citations
,
December 1991 in “Annals of the New York Academy of Sciences” This study suggests that hair keratin gene mutations in mice may be linked to specific loci on chromosomes 11 and 15, potentially influencing keratin expression or structure.
74 citations
,
March 2013 in “Development” This study found that Hopx labels a long-lived progenitor population in hair follicles, which contributes to hair follicle stem cell homeostasis and has an alternative origin from previously thought progenitors.
April 2016 in “Journal of Investigative Dermatology” This study reported that the absence of Lsh in skin led to significant epidermal hyperplasia and altered gene expression, suggesting its crucial role in regulating epidermal proliferation, differentiation, and wound healing.
February 2020 in “Definitions” This abstract reviews the role of the human KRT 16 wild-type allele in skin and hair development and its association with certain genetic skin disorders, without presenting new findings.
114 citations
,
May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
94 citations
,
October 1994 in “The Journal of Cell Biology” This study demonstrates that overexpression of K16 in transgenic mice disrupts normal keratinization, leading to hyperkeratosis, acanthosis, and alterations in the skin's epithelial cells.
12 citations
,
December 2011 in “Journal of Dermatological Science” This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.
2 citations
,
December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
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.
52 citations
,
February 1986 in “Journal of Histochemistry & Cytochemistry” This study found that monoclonal antibodies can identify specific immunological characteristics of hair fibrous proteins, with some antibodies reacting only with hair proteins and others showing broader activity with skin and epithelial cells.
20 citations
,
October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
22 citations
,
January 1990 34 citations
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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.
37 citations
,
October 2015 in “PeerJ” This study found that shampoo and conditioner do not alter hair's molecular structure, while perming treatments significantly affect keratin and intermediate filament structures due to bond alterations.
24 citations
,
April 2016 in “Experimental Dermatology” This study found that chemical treatments like perming, dyeing, and bleaching significantly alter amino acids and lipids in human hair, which may impact hair strength and quality.
24 citations
,
April 2014 in “Oncotarget” This study found that minoxidil suppressed androgen receptor functions and stability, suggesting its potential use in treating diseases related to the androgen-AR pathway.
21 citations
,
October 2023 in “The Journal of Physical Chemistry C” This study used theoretical calculations to show that phosphates strongly bind to cerium dioxide surfaces in various stable configurations, with spectral signatures identifiable in the infrared and Raman spectra, informing future experimental efforts in controlling the enzymatic activity of ceria nanoparticles.
18 citations
,
November 2016 in “PeerJ” This study found that hair follicles can be used to generate pluripotent stem cells, which successfully differentiate into keratinocytes and may improve hair regeneration and grafting for medical applications.
11 citations
,
April 2025 in “Pharmaceutics” In this review, researchers explore various treatment options for alopecia, focusing on nano-drug delivery systems using plant-based substances, which are potentially effective and less harmful than current treatments, while also highlighting emerging trends such as 3D bioprinting and plant extracts for future therapies.
11 citations
,
May 2024 in “Reproductive Biology and Endocrinology” In this study, researchers found that human ovaries at different life stages biosynthesize both canonical and non-canonical steroid hormones, with fetal ovaries showing higher enzyme activity related to estradiol and testosterone conversion compared to adult tissues.
8 citations
,
April 2017 in “Journal of The Royal Society Interface” This study found that keratin intermediate filaments in the hair of GAN patients are altered, showing decreased diffraction signals and increased stiffness, strength, and extensibility.
January 2024 in “Journal of Tissue Engineering” In this study, researchers developed self-assembled skin models derived from hair follicle cells, offering an ethical and reliable alternative to animal testing and bovine collagen in dermatological research by providing functional dermal and epidermal layers for substance evaluation.
January 2013 in “eScholarship (California Digital Library)” This study observed that activating Wnt signaling pathways increased the efficiency of reprogramming human fibroblasts into induced pluripotent stem cells compared to untreated cells.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
57 citations
,
January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
80 citations
,
June 2002 in “Molecular Biology of the Cell” This study found that type II keratins in proliferating epithelial tissues are phosphorylated at a conserved motif during mitosis and stress, impacting keratin solubilization and reorganization.