April 2018 in “Journal of Investigative Dermatology” This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.
10 citations
,
November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
3 citations
,
January 2024 in “In Vivo” In this study, mice on a methionine-deficient diet experienced hair loss, which was not remedied by homocysteine supplementation; hair regrowth only resumed after methionine was reintroduced, suggesting dietary methionine is essential for hair maintenance.
22 citations
,
March 2007 in “European journal of pediatrics” This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
49 citations
,
January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
4 citations
,
February 2012 in “Chinese Science Bulletin” In this study, overexpression of the MtAnn3 gene in Medicago truncatula roots was associated with altered root hair growth polarity in a calcium-free environment.
1 citations
,
February 2021 in “Animal biotechnology” This study found that specific variants of the KAP6-1 gene in cashmere-producing goats were associated with changes in fiber diameter and length, suggesting potential as genetic markers for fiber improvement.
45 citations
,
March 2001 in “Journal of Investigative Dermatology” This study identified a new cytokeratin, mK6irs, specifically expressed in the inner root sheath of mouse hair follicles, distinguishing it as a member of the type II cytokeratin family.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
This study found that the NuMA protein's microtubule-binding domain is essential for proper spindle orientation and differentiation in keratinocytes, affecting skin and hair development in mice.
6 citations
,
March 1991 in “Journal of Radioanalytical and Nuclear Chemistry” Manganese levels in hair may be linked to multiple sclerosis.
76 citations
,
February 1993 in “Journal of Biological Chemistry” This research observed that sheep and rabbit KAP6 genes, expressed in hair follicle cells, have high sequence similarity and indicate conservation due to evolutionary selection pressures.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.
35 citations
,
November 2021 in “Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology” This study identified dynamic changes in DNA methylation associated with different growth stages in Tan sheep, which may offer insights to retain their valuable curly fleece as they age.
253 citations
,
April 2009 in “Journal of Biological Chemistry” This study found that p2y5 functions as a novel LPA receptor involved in the G13-Rho signaling pathway, with implications for human hair growth, and proposes renaming it to LPA6.
36 citations
,
July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
5 citations
,
June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
6 citations
,
July 2009 in “Biomolecules & therapeutics” This study found that combining MSM with MAP significantly enhanced hair growth in mice, comparable to or better than minoxidil, due to increased intradermal retention of MAP.
15 citations
,
June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
April 2026 in “Proceedings of the National Academy of Sciences” In this study, Tmem30b was identified as a key regulator of outer hair cell structure in mice, and its modulation may offer a therapeutic approach for certain types of hearing loss.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
32 citations
,
February 2008 in “Developmental dynamics” This study indicates that the Sp6 gene is crucial for the development of skin, teeth, limbs, and lungs in mice, possibly through regulating apoptosis.
16 citations
,
July 2008 in “BMC Genomics” This study shows that alpha 6 + /MHCI - cells have gene expression profiles similar to hair follicle stem cells, suggesting they may be enriched for stem cells.
54 citations
,
February 2002 in “Carcinogenesis” This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.
1 citations
,
January 2025 in “Proceedings of the National Academy of Sciences” This study used cryoelectron microscopy to unveil the structure of LPA-bound human LPAR6, revealing unique ligand binding and recognition modes distinct from LPAR1, which may aid in designing targeted compounds for hair loss and cancer.
46 citations
,
November 2019 in “Journal of Integrative Plant Biology” This study found that calmodulin 7 (CaM7) inhibits the calcium channel CNGC14 in root hairs, affecting their polar growth by controlling calcium signaling.
44 citations
,
May 1997 in “Journal of Biological Chemistry” This study found that regulatory sequences crucial for inducing K6a expression in response to epidermal injury are located in specific upstream regions of the K6a gene in transgenic mice.