3 citations
,
April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
51 citations
,
February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
December 2009 in “Cancer Research” This study suggests that over-expression of Sp2 may limit stem cell differentiation and contribute to tumorigenic cell growth in mice.
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.
15 citations
,
January 1991 in “Mammalian Genome”
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.
29 citations
,
January 2017 in “Journal of Investigative Dermatology” This study found that increased MSI2 expression in hair follicle stem cells can delay hair growth by maintaining stem cell quiescence and repressing Hedgehog signaling.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
52 citations
,
October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
21 citations
,
August 2007 in “Experimental Dermatology” This study found that mice genetically modified to overexpress the serine protease inhibitor hurpin showed reduced UV-induced apoptosis but increased susceptibility to skin cancer after chemical carcinogenesis.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
53 citations
,
October 2003 in “Developmental Biology” This study in mice found that overexpressing Sonic Hedgehog in basal cells caused skin anomalies and a lack of certain hair fibers, underscoring its key role in hair follicle development.
December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
April 2021 in “Journal of Investigative Dermatology” This trial found that intradermal injections of the Hair Stimulating Complex were well-tolerated and effectively stimulated hair growth and prevented hair loss in male pattern baldness participants over 18 weeks.
7 citations
,
July 2024 in “Animals” In this study, the researchers observed that higher expression of the Sonic hedgehog gene in cashmere goats' hair follicle cycles is associated with increased cell proliferation and reduced apoptosis, suggesting its role in enhancing cashmere quality.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
33 citations
,
December 1999 in “Journal of Investigative Dermatology Symposium Proceedings”
April 2023 in “Journal of Investigative Dermatology” This research reexamined transcriptomic data to study stem and progenitor cell proliferation in psoriasis, finding that the number of committed progenitor cells increased eight-fold in psoriatic skin without altering stem cell numbers, potentially identifying new therapeutic targets.
9 citations
,
June 2016 in “Stem cells” In this study, overexpression of secretory phospholipase A2 Group-IIA in transgenic mice led to depletion of hair follicle stem cells and increased differentiation, linked to changes in histone modifications.
171 citations
,
June 2004 in “Journal of Investigative Dermatology” GLI2 activates GLI1, promoting skin tumor growth and hair development.
This study found that lentivirus-mediated overexpression of Sonic hedgehog significantly increased hair follicle stem cell proliferation and promoted hair follicle regeneration, with higher effects in non-alopecia areas.
20 citations
,
June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” This review summarizes recent research and patents on 17β-HSD3, 17β-HSD5, and 3α-HSD3 inhibitors, suggesting their potential in treating androgen-dependent diseases, but reports no new clinical results.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
11 citations
,
December 2009 in “Cell stem cell” This study demonstrates that Sox2+ dermal papilla fibroblasts exhibit properties of adult stem cells, including the ability to induce hair follicle formation and contribute to dermal regeneration.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.