124 citations
,
November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that human peptidylarginine deiminase type III is the predominant isoform in hair follicles and may modulate structural proteins during hair and hair follicle formation.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
3 citations
,
April 2022 in “Biomolecules” This study found that the MIR34A rs2666433 (A/G) variant is linked to increased risk and severity of alopecia areata, and high circulatory miR-34a levels may play a role in the disease's pathogenesis.
138 citations
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June 2004 in “Journal of Investigative Dermatology” This review discusses the regulation of involucrin gene expression, focusing on transcription factors and signaling pathways, and reports no new experimental findings.
68 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.
11 citations
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October 2023 in “mSphere” This study reported that the PrrH sRNA in *Pseudomonas aeruginosa* may directly regulate genes involved in pyochelin siderophore biosynthesis, highlighting its role in adapting to heme availability, with light conditions influencing this gene expression.
10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.
2 citations
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February 2024 in “Nature cell biology” In this research, the authors identify coordinated mechanical forces as crucial for hair follicle development in mammals, with contractile, proliferative, and proteolytic activities facilitating the formation and sectioning of epithelial structures crucial for forming a functional tissue.
May 2015 in “Endocrinología y nutrición” This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.
49 citations
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March 2004 in “Journal of Investigative Dermatology” This study found that the hHa7 gene in hair follicle trichocytes is the first identified to have its expression directly regulated by androgens, suggesting it as a marker for androgen action on hair follicles.
11 citations
,
July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
June 2022 in “Authorea (Authorea)” This review discusses various methods for delivering CRISPR/Cas9 for gene editing in vitro and in vivo, highlighting delivery as a major challenge but reports no new experimental results.
13 citations
,
June 2014 in “Molecular therapy” This study found that a lentiviral array of reporters can identify lineage-specific promoters and pathways in mesenchymal stem cell differentiation, aiding in the prediction of signaling pathway effects.
1 citations
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April 2024 in “Acta Biochimica et Biophysica Sinica” This study categorizes the human fetal vaginal epithelium into four areas with distinct transcriptomic profiles, aiding potential advancements in vaginal reconstruction and drug delivery.
48 citations
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August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.
12 citations
,
June 2013 in “Gene” This study identified seven gene sequences related to Type III Brush Hair formation in Yangtze River Delta white goats, contributing to our understanding of hair growth and follicle cycles.
October 2024 in “BMC Genomics” This study examined the cytodifferentiation stage of hair follicle development in cashmere goats, identifying nine cell populations and key regulatory pathways, including transcription factors and keratin genes, that may influence fiber quality and inform breeding strategies.
173 citations
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August 2015 in “Developmental cell” This study characterizes gene expression patterns in embryonic hair follicle progenitors and their niche, identifying signaling pathways like axon guidance that may drive cellular rearrangements for hair follicle formation.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
March 2023 in “JAAD case reports” This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.
9 citations
,
September 2013 in “Journal of Applied Animal Research” This study identified eight alleles of the caprine KAP13-3 gene in cashmere goats, which could influence gene expression and cashmere fiber characteristics.
30 citations
,
June 2022 in “Animals” This study found that certain genes were significantly associated with hair length in Inner Mongolia cashmere goats, potentially serving as molecular markers for different hair types.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
9 citations
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February 2022 in “Nature communications” This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
2 citations
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July 2024 in “Frontiers in Veterinary Science” In this study, researchers using a multi-omics approach identified specific proteins involved in the hair follicle cycle of Inner Mongolia Cashmere Goats, finding that API5 affects apoptosis, while ribosomal proteins are highly expressed during the resting stage, providing insights into hair follicle growth and apoptosis.
March 2026 in “Scientific Data” This study mapped the genome-wide epigenetic landscape in secondary hair follicle stem cells of goats, revealing distinct histone modification signatures associated with cashmere fiber cycling during different stages of hair growth.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
April 2026 in “BMC Genomics” This study identified key molecular differences between Long and Short hair type cashmere goats, suggesting hair type differentiation is linked to structural assembly and follicle remodeling.
3 citations
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March 2025 in “Science Advances” This study found that the unique crest feather formation in Polish chickens is driven by a 195-bp duplication in the HoxC10 gene region, which alters gene expression by modifying the genomic structure, suggesting a mechanism for diverse integumentary appendages in birds.