53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
52 citations
,
July 2011 in “PubMed” This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.
137 citations
,
October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
2 citations
,
May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
January 1993 in “Claves de razón práctica” This study found that ROR2 plays a crucial role in the regulation of hair follicle stem cell self-renewal and maintenance, particularly by compensating for the absence of β-catenin.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the Polycomb Repressive Complex 2, particularly its component Ezh2, is crucial in regulating dermal fibroblast differentiation and epidermal keratinocyte proliferation during murine skin development.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
July 2022 in “Journal of Investigative Dermatology” This study found that decreased TRPS1 expression in balding dermal papilla cells may impair their signaling ability, contributing to hair follicle miniaturization in androgenic alopecia.
8 citations
,
December 2003 in “Experimental Dermatology” In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.
34 citations
,
May 2001 in “Endocrinology” This study found that MRP3 is induced in wound edge keratinocytes during wound healing and may play a role as a growth or angiogenesis factor in this process and the hair follicle cycle.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
5 citations
,
February 2023 in “Frontiers in Veterinary Science” This study found that ovine dermal papilla cells exhibit robust aggregation and alkaline phosphatase activity, regulated by Wnt/β-catenin signaling, providing insights for improving wool performance and hair regeneration therapies.
85 citations
,
July 2002 in “Pigment Cell Research” This review examines cell senescence pathways in melanocytes, highlighting the involvement of telomere attrition, the p16/RB pathway, and cAMP signaling in the context of melanoma development, but reports no new findings.
8 citations
,
September 2020 in “Genes & Genomics” 19 citations
,
May 2016 in “Biology Direct” This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.
2 citations
,
July 2004 in “Cell Biology International” This study found that urokinase plasminogen activator (uPA) is elevated in hyperproliferative hair follicle keratinocytes in mice, and its inhibition significantly reduces their proliferation.
April 2023 in “Journal of Investigative Dermatology” This study found that sebaceous glands can regenerate after PPARg deletion in adult skin, relying on the hair cycle and FGFR signaling.
53 citations
,
May 1988 in “Journal of Molecular Evolution” September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers developed a non-invasive, partially automated protocol for extracting DNA from marmoset hair follicles, resulting in high-quality whole genome sequencing with low chimerism levels, making it a reliable method compared to blood DNA sequencing in these primates.
7 citations
,
December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
52 citations
,
May 1997 in “Journal of Biological Chemistry” This study suggests that polyamines regulate CK2 enzyme activity and its subcellular distribution, as demonstrated in mouse models and cell cultures with elevated levels of ornithine decarboxylase.
This study identified several genetic mutations linked to hereditary skin and hair disorders in consanguineous families from remote areas of Pakistan, enhancing understanding of the molecular basis of these conditions.
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.
2 citations
,
July 2005 in “International Joint Conference on Artificial Intelligence” This study suggests that EREG, released from ORS cells, may promote hair growth by activating specific receptors and modulating ROS generation, offering a potential new treatment for hair loss.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
2 citations
,
February 2019 in “Journal of Investigative Dermatology” This study suggests that the expression of the DP2 receptor is higher in balding scalp cells and that its knockdown could inhibit the transition to the catagen phase in cultured human hair follicles, potentially counteracting hair growth inhibition associated with male pattern baldness.