7 citations
,
March 2011 in “Hormone and Metabolic Research” This study found that in PCOS patients, variations in the lipin 1 gene, particularly the intron 1 SNP, may protect against insulin resistance and glucose intolerance, highlighting a potential genetic factor in the disorder's cardiometabolic complications.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.
3 citations
,
January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.
11 citations
,
July 2021 in “Physiologia Plantarum” In this study, the gene SlPHL1 was identified as a transcription factor in tomatoes that enhances phosphate starvation responses by upregulating specific genes.
April 2026 in “Tissue Engineering and Regenerative Medicine” This study found that the GPRC6A-Duox1 signaling pathway influences hair cycle progression and testosterone-mediated hair loss in mice, suggesting that disruption of this pathway leads to resistance against testosterone-induced hair loss and longer anagen phase duration.
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.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
175 citations
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August 1997 in “Nature Genetics”
August 2024 in “Biomolecules & Therapeutics” In this study, the researchers reported that a newly developed PYGL inhibitor, HTPI, enhanced hair growth in an ex-vivo culture by reducing oxidative damage in hDPCs and inhibiting glycogen degradation in hORSCs, showing potential as a treatment for hair loss comparable to minoxidil.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers found that stabilizing the protein HIF1A in hair follicles promotes glycolysis over oxidative phosphorylation, potentially reducing oxidative stress and supporting hair growth.
38 citations
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April 2017 in “PLOS Genetics” This study found that human progenitor keratinocytes form unique complements of enhancers and super-enhancers during differentiation and migration, influencing gene expression and skin disease variant enrichment.
7 citations
,
August 2017 in “European journal of endocrinology” This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.
19 citations
,
July 1997 in “British Journal of Dermatology” This study successfully developed and characterized a monospecific monoclonal antibody, LHTric-1, that specifically localizes to the pre-cortical region of the hair follicle and can aid research on hair and nail formation.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
January 2014 in “Max Planck Digital Library” This research describes mouse models to explore Kindlin-1's role in skin disorders, including Kindler syndrome, revealing novel integrin-independent pathways potentially leading to skin tumors.
July 2016 in “Cancer research” This study found that mutant cells in hair follicles can be tolerated or eliminated by surrounding normal tissue, suggesting the potential for wild-type cells to counteract oncogenic mutations.
35 citations
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April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
27 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” 21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
9 citations
,
February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
32 citations
,
July 2017 in “Oncotarget” This study found that intermittent treatment with FTI lonafarnib and sulforaphane may be a promising therapeutic approach for children with Hutchinson-Gilford progeria syndrome, as it improved the cellular phenotype.
This study found that WISP-1 plays a key role in ligamentum flavum fibrosis through the Hedgehog-Gli1 pathway, with cyclopamine showing potential to reduce fibrosis effects in a rabbit model.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, silencing P-cadherin in human scalp hair follicles reduced melanogenesis and associated protein expression, suggesting P-cadherin is crucial for normal hair pigmentation via GSK3β-mediated Wnt signaling.
4 citations
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October 2022 in “International Journal of Molecular Sciences” In this study, Thy-1 was observed to play a critical role in wound healing in mice, particularly influencing vascular dynamics and blood perfusion during the healing process.
25 citations
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November 2017 in “Molecular Medicine Reports” This study found that PlncRNA‑1 may enhance the proliferation and differentiation of hair follicle stem cells by upregulating the TGF‑β1-mediated Wnt/β-catenin signaling pathway.
January 2026 in “Biomaterials” January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.