30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
15 citations
,
April 2011 in “Biological Chemistry” This study found that Cathepsin E plays a crucial role in keratinocyte terminal differentiation, affecting epidermis formation and homeostasis in mice.
13 citations
,
June 2017 in “Biochimie open” This study determined that the human steroid 5α-reductase enzymes localize to the endoplasmic reticulum in HeLa cells, with protein tagging affecting expression and inducing protein aggregates for some isoforms.
January 2009 in “China Animal Husbandry & Veterinary Medicine” This study found that the sheep high-sulfur keratin promoter B2C initiated GFP expression in sheep fibroblasts but remained inactive in mouse embryos.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
November 2024 in “The Journal of Cell Biology” This study revealed that basement membrane dynamics are crucial to hair follicle development, influencing progenitor cell behavior and cell division patterns in developing mouse hair follicles.
5 citations
,
February 2022 in “Biophysical journal” This study developed a mathematical model indicating that the amino acid sequences of intermediate filament proteins, rather than flexibility differences, significantly impact assembly rates.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
60 citations
,
March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
January 2014 in “China Animal Husbandry & Veterinary Medicine” This study found that EGF, IGF-Ⅰ, and IGF-Ⅰ R are extensively expressed in mink skin and hair follicles, suggesting these genes play crucial roles in their development.
45 citations
,
July 2009 in “Journal of human genetics” This study found that an SNP in the FGFR2 gene, rs4752566, was significantly associated with hair thickness in Asian populations, suggesting an effect on hair morphology through altered FGFR2 expression levels.
7 citations
,
September 2024 in “PLANT PHYSIOLOGY” This study in Arabidopsis thaliana found that exposure to volatile compounds from Penicillium aurantiogriseum promotes root hair growth through signaling involving RALF22, ethylene, auxin, and photosynthesis, and that RALF22 plays a crucial role in the plants' response to these compounds.
141 citations
,
February 1988 in “Molecular and Cellular Biology” This study found that despite strong homology between two K16 genes, only one encoded a functional protein that assembled into keratin filaments in epithelial cells, possibly due to promoter strength differences.
354 citations
,
February 2011 in “Genes & Development” This study found that abolishing H3K27me3 in mouse skin by targeting Ezh2 and Ezh1 affects hair follicle development and epidermal behavior, revealing functional differences between these tissues.
21 citations
,
June 2004 in “Experimental Dermatology” This study found that Ber-EP4 immunoreactivity is present in specific areas of hair follicles across different stages of the hair cycle, particularly in the secondary hair germ, but not in mature anagen follicles.
4 citations
,
January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
49 citations
,
January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 24 citations
,
November 1997 in “Journal of Biological Chemistry” This study found that genes encoding mouse high-glycine/tyrosine proteins show distinct spatial and temporal expression patterns in hair follicles, suggesting diverse protein distribution during hair growth cycles.
January 2003 in “Hepatology” 10 citations
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September 2004 in “PubMed” In this study, no significant association was found between the VDR FokI gene polymorphism and alopecia areata, though further research in diverse populations is needed.
August 2016 in “Journal of Investigative Dermatology” This study found that the activity of CD73, an enzyme expressed in the hair follicle epithelium, may regulate human hair growth by modulating adenosine production.
November 2025 in “The Journal of Immunology” This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.
23 citations
,
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” In this mouse study, NF-κB was shown to play a role in hair follicle cycling and morphogenesis, with specific activity patterns differing by hair type and involving noncanonical signaling for zigzag hair bending.
12 citations
,
January 1987 in “Ophthalmic Paediatrics and Genetics” This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.
This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.
In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.
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.
147 citations
,
August 2005 in “The Plant Cell” This study identified a key Arabidopsis thaliana gene, TIP1, whose product is involved in S-acylation crucial for normal plant cell growth, particularly affecting root hair development.
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.